Diagnosing PRP Survey

Objective
To better understand the role played by dermatologists and dermatopathologists in the diagnosis of PRP.

Problem to be addressed
While some PRP patients enjoy a relatively quick diagnosis of PRP, many of us have had to suffer through a differential diagnosis that preceded the “official” PRP diagnosis. During that time either the wrong treatment was administered or the appropriate treatment was delayed. Understanding the diagnosis of PRP would seem to be an important part of our journey from onset to remission,

Scope
The entire worldwide PRP community will be surveyed.

Methodology
The PRP Community Database and the technical resources of Constant Contact will be used to execute the Dx PRP Survey.

Measuring Success
The original PRP Biopsy Poll was conducted in the Summer of 2013 and reported findings based on 256 PRP patients. The goal for the PRP Diagnosing PRP Survey will be a minimum of 500 participants.

Diagnosing PRP Survey

Resources Supporting PRP Patients & Caregivers

PRP Alliance.Inc.

The PRP (Pityriasis Rubra Pilaris) Alliance is a 501(c)(3), nonprofit, patient advocacy organization.Our mission is to advocate for the timely and accurate diagnosis of pityriasis rubra pilaris (PRP), the implementation of more effective and accessible treatment options, and an increase in PRP-specific research. Advocacy contacts:

Bill McCue, Founder/President
Plano, TX
Telephone: (214) 205-0574
Email: bill.mccue@prpAlliance.org

Ginny Maxwell, Director, Patient Advocacy
Lexington, SC
Telephone: 803.640.5769
Email: ginny.maxwell@prpAlliance.org

PRP Survival Guide

The PRP Survival Guide is an online repository of patient-reported experiences as reported by the PRP community. It  is offered as an alternative to unstructured and random searches by newly diagnosed PRP patients using Dr. Google, Dr. Yahoo and Dr. Bing. These efforts will almost always lead to frustration and frequently to misinformation.

If we do are job properly, you will either (1) find the answers you seek or (2) send the PRP Survival Guide editor out in search of answers to questions we haven’t asked. Eight chapters provide an organizational framework for PRP patients and caregivers:

✽  Basics
✽  Diagnosing PRP
✽  Treating PRP
✽  Daily Life
✽  PRP Parents and Children
✽  PRP & Remission
✽  PRP Research
 PRP Advocacy

PRP Facebook Support Group

Founded in April 2013, the membership in this Closed Group has grown steadily to nearly 1,100 with representation on every continent. Truely the “Land of Chat”, post a question and comments flood in. Need a hug, the huggers respond. Need a friend … there’s a community of fellow travelers ready to lend an ear or a shoulder. Need information … there are nearly 1,100 members who can share what works and what doesn’t for their unique version of PRP. We learn together. We are in this together.

PRP Community on RareConnect

The PRP Alliance supports RareConnect, an initiative of EURORDIS, the international equivalent of the National Organization of Rare Disorders. Established in April 2015, the PRP Community on RareConnect is a 200+ member, multi-language, non-Facebook option serving adults with PRP and the parents of children diagnosed with juvenile onset.

RareConnect provides a “safe, easy to use platform where rare disease patients, families and patient organizations can develop online communities and conversations across continents and languages. RareConnect partners with the world’s leading rare disease patient groups to offer global online communities allowing people to connect around issues which affect them while living with a rare disease.”

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases (GARD) Information Center is a program of the National Center for Advancing Translational Sciences (NCATS) and funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to current, reliable, and easy to understand information about rare or genetic diseases in English or Spanish.

The PRP Community advocated that all patients diagnosed with PRP should be routinly referred to GARD’s PRP Repost rather than Dr. Google, Dr. Yahoo and Dr. Bing.

National Organization of Rare Disorders

The National Organization of Rare Disorders maintains a Rare Disease Database to provide brief introductions to more than 1,200 rare diseases — including pityriasis rubra pilaris. These rare disease reports are primarily geared toward patients and families. There is also, however, an important secondary audience, e.g.,  physicians, researchers, nurses, students, journalists and others who might request and benefit from such rare disease information.

The PRP Report (circa 2017) has recently replaced the 2007 version.

 

NORD PRP Report Revised

From the Editor…

The light has finally been turned on.

As of September 20, the National Organization of Rare Disorders (NORD) has replaced the 2007 PRP Report with the 2017 revision. We now have a beacon of hope for PRP patients and caregivers to find as they travel the uncharted waters of pityriasis rubra pilaris.

Here are some not-so-random observations:

(1) Total word count increased by 4,010 — from to 1,274 to 5,284.

(2) One of the NORD guidelines for their rare disease reports is that they be written for the 8th grade level. We did one better. We gave one of Ginny Maxwell’s twin boys, a 7th Grader with atypical juvenile onset PRP, an opportunity to read the revision. Joey gave it a “thumbs up”.

(3) The FIRST DRAFT was made available to the PRP community via the PRP Facebook Support Group. I considered this to be my “Peer Review” by fellow PRP patients and caregivers. Comments and corrections were made as appropriate.

(4) The SECOND DRAFT was made available to dermatologists via their PRP patients. While the overall response was disappointing, the comments and corrections were incorporated as appropriate.

(5) An updated SECOND DRAFT was provided to what you might call an “Unofficial” Editorial Advisory Council. We got great response from:

✽  Mark Lebwolh, MD, Chairman, Dermatology Department, Icahn Medical School, Mount Sinai Hospital, New York, NY;

Jouni Uitto, MD, PhD Professor and Chair, Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA;

Nicholas Ross, MD, Lead Investigator and Resident Physician, Department of Dermatology and Cutaneous Biology of Thomas Jefferson University, Philadelphia, PA;

Teri Greiling, MD, PhD, Assistant Professor of Dermatology, Oregon Health & Sciences University, Portland, OR;

Kelsey Brown, Medical Writing Specialist, UCB BioSciences, Inc., Raleigh, NC; and

✽  Jan Tennant, PRP patient, former Information Analyst, Pfizer, Inc., Ringwood, NJ

(6) The FINAL DRAFT was sent to Marsha Lanes, Medical Editor for NORD Rare Disease Database. It was accepted and approved by NORD with minor formatting changes.

When a newly diagnosed PRP patient or caregiver — or even a dermatologist or other healthcare professional — looks up “pityriasis rubra pilaris”, they will find the NORD PRP Report (circa 2017) in the Top 5 and the PRP Alliance referenced in 5 of the top 10 results, e.g., (#1 of 10)  DermNet New Zealand, (#2 of 10) Medscape, (#3 of 10) National Organization of Rare Disorders,  (#4 of 10) Genetic and Rare Diseases Information Center,  (9) British Association of Dermatologists.


It has taken four years to build the lighthouse and two months to turn on the brightest light we could fine. Thanks to everyone who has supported this effort.

Next on the agenda: An eBook for PRP patients, caregivers and healthcare professionals— the logical next step for the PRP Survival Guide.

NORD PRP Report Revised

Pityriasis Rubra Pilaris Draft for NORD

ACKNOWLEDGMENT

NORD gratefully acknowledges the following for their assistance in preparing this report: Mark Lebwolh MD, Chairman, Dermatology Department,  Icahn Medical School, Mount Sinai Hospital, New York, NY; Jouni Uitto MD, PhD Professor and Chair, Department of Dermatology and Cutaneous Biology. Thomas Jefferson University, Philadelphia, PA; Nicholas A Ross, MD, Lead Investigator and Resident Physician, Department of Dermatology and Cutaneous Biology of Thomas Jefferson University, Philadelphia, PA; Teri Greiling MD, PhD, Assistant Professor of Dermatology, Oregon Health & Sciences University, Portland, OR; Kelsey Brown, Medical Writing Specialist, UCB BioSciences, Inc., Raleigh, NC; Jan Tennant, PRP patient, former Information Analyst, Pfizer, Inc., Ringwood, NJ; and Bill McCue, PRP patient; Founder/President, PRP Alliance; Editor, PRP Survival Guide, Plano, TX.

SYNONYMS

PRP
Devergie’s Disease
Lichen Acuminatus
Lichen Ruber Acuminatus
Pityriasis Rubra Pilaire (Fr.)
Lichen Ruber Pilaris 1-3

SUBDIVISIONS OF PRP

Type 1 — Classical Adult Onset
Type 2 — Atypical Adult Onset
Type 3 — Classical Juvenile Onset
Type 4 — Circumscribed Juvenile Onset
Type 5 — Atypical Juvenile Onset
Type 6 — HIV-associated 1-3

SUMMARY

Pityriasis rubra pilaris (PRP) is a rare skin disorder that causes inflammation of the skin, thickening of the nails and at times shedding of the hair. The name means scaling (pityriasis), redness (rubra), and involvement of the hair follicles (pilaris).4

Typically, PRP appears first as a small spot somewhere on the face and then spreads to the back and the rest of the body.5

It may impact different parts of the body in different ways for unpredictable periods of time.5 The inflammation may cover the entire body or just parts of the body such as the elbows, knees, palms, and soles.6 The disease may progress and leave distinct areas of uninvolved skin, the so-called “islands of sparing” or “skip areas”.7

The classic adult type, the most prevalent subcategory, had previously been reported to resolve within three years. The largest case series to date, however, demonstrated that courses are often much longer than this. The pediatric type, tends to be a more protracted course.36

The peak onset years of PRP are in the first, sixth and seventh decades of life. While it most commonly affects adults, there is a significant proportion of pediatric patients affected. The disorder favors no gender.8

There are five types of PRP, which are classified based on age of onset and body areas affected. The sixth type of PRP, or HIV associated, has been more recently described but is still debated. PRP usually occurs at random, but some forms may be hereditary.9

While the exact prevalence and incidence are unknown, there are an estimated 800+ “active” patients in the U.S. and less than 1900 patients in Europe. PRP is an ultra-rare skin disorder. In fact, it is considered an orphaned disease. The rarity of PRP notwithstanding, the signs and symptoms of PRP often mimic those of eczema (31.6 million patients) and psoriasis (8 million patients).10-11

PRP patients and their caregivers quickly learn that every case of PRP is unique.4 Unfortunately, there is no specific or consistently effective therapy for PRP. In fact, there are no treatments approved by the US Food and Drug Administration (FDA) or the European Medicines Agency (EMA) for use in PRP.12 Nevertheless, experts tend to use a multimodal approach including topical and systemic therapies to control the symptoms of the disorder. Topical therapies can reduce skin (cutaneous) inflammation and aid with itch (pruritus) and dryness/flaking (xerosis). Systemic therapy can reduce inflammation and is generally required in the majority of patients with large body surface areas of involvement.12

INTRODUCTION

When James Shooter was admitted to St. Bartholomew’s Hospital in London, England in 1828, he unwittingly became the world’s first recorded patient with what the medical community would eventually call pityriasis rubra pilaris. In 1828, however, Mr. Shooter’s skin disorder did not yet have a name. Seven years passed before Claudius Tarral, a French dermatologist, wrote about the case in Traite theorique et pratique des maladies de la peau (Treatise on Skin Diseases) in 1835. Tarral saw it as a variant of psoriasis.13-14

It would take another 21 years for Marie Guillaume Alphonse Devergie, a dermatologist and forensic doctor at St. Louis Hospital in Paris, to publish the most complete description of PRP. In fact, it is considered to be the “original description” of PRP by the medical community. Devergie’s article was published in the Gazette Hebdomadaire de Medecine et de Chirurgie in 1856.14

While Devergie saw the skin disorder as a combination of “follicular lesions and psoriasis palmaris, pityriasis capillitii and pityriasis rubra”, it would take yet another 21 years before another Frenchman and dermatologist by the name of Richaud to recognize PRP as a distinct entity. Richaud published his paper “Etude sur le pityriasis pilaris” in 1877.15

When Ernest Besnier presented nine cases in a 120-page article published in 1889 — 12 years after Richaud, 43 years after Devergie, and 54 years after Tarral, he forever fixed the name of the disease as pityriasis rubra pilaris. Besnier too, was a Frenchman and dermatologist. He was also the medical director of the St. Louis Hospital in Paris — the same hospital as Devergie.16 The name comes from three Latin words: pityriasis(scale-like), rubra (red) and pilaris (hair follicles).2

Like many rare disease, the PRP community laments the snail’s pace at which PRP research progresses. What should we expect — it took 61 years just to pick the name.

Recently, the Research Group from Thomas Jefferson University’s PRP Center of Excellence has compiled the world’s largest cohort of PRP patients. With each day, new understanding of the diagnosis and management of PRP are gained; yet much work remains to be accomplished.

SIGNS & SYMPTOMS

The terms “sign” and “symptom” are not redundant.  A sign is an indication of a medical condition that can be objectively observed by others, including healthcare professionals. In contrast, a symptom is subjective, information that is shared by the PRP patient with the healthcare such as pain, itching, fatigue. The following is a list of signs and symptoms that define the PRP.

Pre-onset Signs

Mild signs include dandruff and crusty scalp, as well as limited red patches or scaling of the skin, (eg, a “dime-sized red spot” on the forehead). The duration varies from patient to patient. At some point the patient determines that intervention of a healthcare professional is warranted, (eg, a red spot has doubled in size in less than two weeks).

Progression of Signs

Depending on the advancement of inflammation, a general practitioner or dermatologist will see signs including pink, red, or orange-red scaly patches on the skin. These patches are usually itchy. Initially, PRP patients may have the scaly patches only on some parts of the body. Patches most often occur on the elbows, knees, hands, feet, and ankles. Skin on the palms and soles may also become red or waxy and thickened with a classic orange hue (palmoplantar keratoderma). The scaly patches may eventually spread over the entire body.17 Islands of sparing can occur within the salmon-colored patches of inflammation.

Cracks (fissures) may develop within thickened skin which can be painful and make walking and using one’s hands difficult. Nails may become thickened, discolored, ridged, cluttered with debris under the free-edge and may even shed.  Hair may shed considerably due to the disorder itself or some treatments used.  Heat intolerance, protein loss and fluid imbalance can occur when the rash becomes widespread (erythroderma).4
Diagnosis is often delayed by the prolonged course of evolution of the disease and its ability to masquerade as other disorders, particularly eczema and psoriasis. Fortunately, many of the treatments for eczema, psoriasis and PRP are shared.5

Acute Stage Signs and Symptoms

A dermatologist will be able to see the signs of a body engulfed by dry, red, and flaking skin, swollen feet and legs, and cracked and bleeding hands and feet. There may be serious issues related to impaired mobility, eyes and vision (caused by tightness and pulling of the eyelids), and dexterity. The PRP patient will see symptoms of PRP from a different perspective, eg, pain of motion, unrelenting itch (pruritus), and heat intolerance. Pruritus, pain, and sleep disturbance are common with this disorder. The Acute Stage poses the greatest challenge to body, mind, and spirit and can last anywhere from less than a month or many months longer. This is the time in the PRP journey that PRP patients and caregivers should seek support from patient support groups. It is also a time to address issues of depression.5

Management Stage

After the Acute Stage, the journey of a PRP patient takes on a new focus — mitigating and managing symptoms. Potential irritants are waiting on the roadside, eg, joint pain, clogged ears, and disability claims, to name a few. While 90% of the PRP patient population can look forward to full remission within one to five years, the timetable is not certain. Those diagnosed with atypical adult onset and atypical juvenile onset, the chronic versions of PRP, must develop long-term coping skills. For everyone, the daily routine associated with medications, moisturizing, and dealing with the challenges of body, mind and spirit of this skin disorder cannot be ignored.

Remission & Healing Milestones

The medical community defines remission as the disappearance of signs and symptoms of disease, whether through the use of medication or naturally with time. Recovery is considered the restoration of health or function. The PRP community has adopted a more celebratory approach to disease recovery with recognition of healing milestones. The return of sweat, the first trip out of the house for groceries, and dark hardwood floors that don’t need hourly vacuuming are all cause to celebrate. These milestones are symptoms of healing that PRP patients and caregivers feel and signs that everyone else observes.Causes

The specific underlying cause of PRP is unknown, although a combination of a genetic predisposition, environmental trigger, and other unknown causes is believed to play key roles. Vitamin A deficiency was once believed to be related to the disorder, however, this theory lacks sufficient evidence and treatment with Vitamin A has been less than effective.36, 38

AFFECTED POPULATIONS

Based on conversations within the PRP community, we can say with metaphysical certitude that PRP isn’t a punishment for misbehavior or forgetting to put the toilet seat down. There are thousands of perfectly wonderful people who have — or had — PRP. Moreover, there are many very bad people who don’t have it. Who then gets the short end of this rare disease stick?

Prevalence: In March 2003, Dr Andrew Griffiths delivered a “Dowling Oration” to members of the British Association of Dermatology assembled in Liverpool, England. Dr Griffiths reflected on 35 years of diagnosing, treating and researching pityriasis rubra pilaris. He unilaterally guessed the PRP prevalence rate at one in 400,000 persons. While the methodology used by Dr Griffiths is subject to debate, dermatologists worldwide have used his estimate due to a lack of evidence-based studies of how often diseases occur in different groups of people and why (epidemiology).1

Age: Pityriasis rubra pilaris is a rare disorder that may develop during childhood or adulthood. Juvenile onset accounts for 45% of the “active” patient population while adult onset accounts for 55%.6 Although PRP may occur at any age10, it most commonly affects those in their first, second, fifth, and sixth decades of life.24, 2

Gender: PRP appears to occur in males and females in relatively equal numbers. However, in childhood, the male to female ratio is 3:2.25

Race: Persons of any race may be affected.2, 7

Acquired or Inherited: PRP is usually sporadic (occurring randomly) but some forms may be herediatry.6, 2

DISORDERS THAT MAY MIMIC PRP

Symptoms of the following disorders can be similar to those of pityriasis rubra pilaris. Comparisons may be useful for a differential diagnosis:

Psoriasis: According to the National Psoriasis Foundation, “Psoriasis is an immune-mediated disease that causes raised, red, scaly patches to appear on the skin. It typically affects the outside of the elbows, knees or scalp, though it can appear on any location. Some people report that psoriasis is itchy, burns and stings. Psoriasis is associated with other serious health conditions, such as diabetes, heart disease and depression.” More information is available at the NPF website.26

Atopic dermatitis (Eczema & Dermatitis): There are different types of eczema that collectively affect more than 30 million Americans: atopic dermatitis, contact dermatitis, dyshidrotic eczema, hand eczema, neurodermatitis, nummular eczema and stasis dermatitis. For more information contact the National Eczema Foundation.27

Allergic reaction: Most skin allergic reactions are minor, such as an eczema-like rash from poison ivy, or mosquito or other bug bites, or sneezing from hay fever. The type of reaction depends on the person’s immune system response, which is sometimes unpredictable. For more information about allergic reactions, go to eMedicineHealth.28

Pityriasis rosea: Pityriasis rosea (PR) is a benign rash, a common skin disorder observed in otherwise healthy people, most frequently found in children and young adults, that is thought to be caused by a mild viral infection. It usually goes away without treatment after a few months. It can easily mimic types of similar skin eruptions including lichen planus, psoriasis, and pityriasis rubra pilaris. Pityriasis rosea has a very specific and recognizable rash. It does, however, begin with a “herald mark”. Follow the link listed in the reference section for additional information at Medscape.29

Fungal infection: Mycoses are fungal infections of the skin. They are common and generally mild. However, in very sick or otherwise immunosuppressed people, fungi can sometimes cause serious disease.30

Lupus: Lupus is a chronic autoimmune disease that can damage any part of the body including skin, joints and organs. “Chronic” means that the signs and symptoms tend to last longer than six weeks and often for a lifetime. In lupus, something goes wrong with the immune system. Normally our immune systems produce proteins called “antibodies” which protect the body from invaders. “Autoimmunity” means your immune system cannot tell the difference between these foreign invaders and your body’s healthy tissues. As a result, it creates autoantibodies that attack and destroy healthy tissue. When someone has lupus, these autoantibodies cause inflammation, pain, and damage in various parts of the body.31

Cutaneous T-cell lymphoma: On occasion, the diagnosis of a PRP patient has been changed to cutaneous T-cell lymphoma (CTCL). Chronic inflammation in the skin occurs in PRP and other inflammatory skin diseases like psoriasis and eczema and can even trigger CTCL after many years. The PRP community recommends that appropriate tests which may include skin biopsy and blood work be performed to rule out CTCL. 32

DIAGNOSIS

A medical diagnosis is based on information from sources such as findings from a physical examination, an interview with the patient, family or both, a medical history of the patient and family, and clinical findings as reported by laboratory tests and radiologic studies.

A differential diagnosis is a process of weighing the probability of one disease versus that of other diseases.  It represents an alternative diagnosis based on the clinical and pathologic features of the patient.

Pityriasis rubra pilaris is not easy to diagnose. In March 2003, English dermatologist Dr. Andrew Griffiths reinforced that fact when he titled his Dowling Oration to the British Association of Dermatologists “Pityriasis Rubra Pilaris — The Scarlet Pimpernel”. Griffiths quoted author Baroness Orczy’s character who says: “They seek him here, they seek him there, that damned elusive Pimpernel.” We agree with Griffiths, “This disease remains an enigma.”1

The Diagnostic Role of the Dermatologist

Clinical observation is where it all begins. What symptoms are visible to the dermatologist during the examination? A dime-sized red spot on a forehead can reasonably be diagnosed as seborrheic dermatitis. Similarly, a patient “in full bloom” presenting with 90% of the skin covered with redness and scale, islands of sparing, and other key indicators might be more than enough to awaken a memory of a grand rounds experience years earlier in medical school.

The Diagnostic Role of the Dermatopathologist

The microscope is where the clinical observations are either supported or not. Biopsies sent to a dermatopathologist are often used to “rule out” specific skin maladies or causes. The PRP community has learned from shared experiences — albeit anecdotal — that when the dermatologist suspects PRP and instructs the dermatopathologist to “consider PRP,” that the findings support the clinical observations. Special tests can be performed on the skin biopsy to rule out the possibility of cutaneous lymphoma which can mimic PRP at the microscopic level (histology).

Nevertheless, the signs of PRP under the microscope are neither sensitive (the ability to pick up a diagnosis when using a test) nor specific (not? shared by many other disorders as well) to PRP. As such, the diagnosis of PRP remains largely a clinicopathologic correlation, that is to say piecing together the clinical and pathologic features to make the “best fit” of a diagnosis based on the patient’s presentation.

Differential Diagnosis

A differential diagnosis is the method by which a physician determines what disease process has caused a patient’s symptoms. The physician considers all relevant potential causes of the symptoms and then eliminates alternative causes based on a physical examination, clinical tests and a thorough case history.33

The International Center for Toxicology and Medicine states, “A differential diagnosis is a quest for a diagnosis. What is wrong with the patient internally? It is not, inherently, a search for the ultimate cause (critical to liability) of that disease process or disorder.”34  It is “the process of weighing the probability of one disease versus that of other diseases possibly accounting for a patient’s illness.”35

STANDARD THERAPIES

Treatment of pityriasis rubra pilaris is mainly anecdotal, based on case reports and case series, a feature shared by many disorders in dermatology due to their rarity. The fleeting nature of the large proportion of PRP symptoms also makes it difficult to study in standardized, long-term therapeutic studies. As controlled trials are lacking, the effectiveness and safety of treatments is unclear. Thus, there is low quality evidence supporting treatment strategies of PRP. Currently there are no treatments approved by the US Food and Drug Administration or the European Medicines Agency for use in PRP.9

PRP tends to follow a natural waxing and waning course, with episodes in which there is periodic worsening (exacerbation) or cessation (remission) of symptoms. Thus, according to many researchers, it may be difficult to evaluate the effectiveness of particular therapies.9

The value of treatment is difficult to assess, as the clinical course is so variable for each of the different types of PRP. Patients with classical adult onset PRP, for example, may present with intense and widespread reddening of the entire skin surface (erythroderma). Hospital admission for skin care, fluid replacement and other supportive care may be warranted.6

From the patient perspective, there are two major objectives in the treatment of pityriasis rubra pilaris:

✽  relieving symptoms as they present

✽  achieving long-term remission, if possible. The mantra heard within the PRP community is simple but deafening: What works for one doesn’t work for all.

TREATMENT OPTIONS

Management of PRP often involves systemic and topical therapies combined. Topical therapies can help with the symptoms and may be enough for people with mild PRP. Topical treatments are usually combined with systemic therapy for PRP that affects a large part of the body. Most PRP patients need systemic therapy to control the condition.9

Treatment options will vary based on age, geography, and cost to the patient. Moreover, laboratory tests are important to monitor the effects of medications on the body — especially the liver — and to manage and monitor the side effects of drugs.

Some of the medications used to treat PRP can harm a developing fetus and are not recommended for use right before or during pregnancy.9

People seeking information about specific treatment options for themselves or family members should speak with their health care provider.9

RETINOIDS
Oral retinoids are derivatives of vitamin A that slow the growth and shedding of skin cells. Treatment options include acitretin / Soriatane® and isotretinoin / Accutane®, though researchers at the PRP Center of Excellence prefer acitretin over isotretinoin and etretinate. Oral retinoids (synthetic vitamin A derivatives) are the first line systemic treatment for PRP.9 A scientific survey of patients with PRP performed by researchers at Thomas Jefferson University published that oral retinoids were helpful in approximately 60% of patients with PRP.36

Immunosuppressants

Immunosuppressants slow down the body’s immune system. These can be used in combination when oral retinoids are ineffective. Treatment options (oral and injection) include methotrexate, cyclosporine, TNF-alpha inhibitors, IL-12/23 inhibitors, among others. Methotrexate was reported to be helpful in approximately 50% of patients with PRP.36

BIOLOGICALS
Biologicals are also immunosuppressants. Biologicals are injectable or intravenous (IV) medications that target various pathways of inflammation in the body. With generally fewer side effects, biologicals are targeted to reduce inflammation. Treatment options include adalimumab / Humira®, etanercept / Enbrel®, infliximab / Remicade®, ustekinumab / Stelara®, secukinumab / Cosentyx®, ixekizumab / Taltz®, brodalumab / Siliq®, guselkumab / Tremfya®, and apremilast / Otezla®. These biologic medications are FDA-approved for psoriasis but improvement or remission for some patients with PRP have been published in the medical literature.

OTHER THERAPIES

✽  Topical creams that contain urea or ammonium lactate decrease scaling and flaking of the skin. Topical corticosteroid creams decrease skin inflammation. These are applied  directly to the skin.

✽  Oral vitamin A. This may be helpful in some people, but only in very high doses that may cause toxicity. Retinoids (synthetic derivatives of vitamin A) are safer and more effective and more commonly used than high-dose vitamin A.8

✽  Traditional Chinese Medicine and other Alternative Medicines with varying degrees of success.

REFERRALS

Depending on the severity, duration and array of signs and symptoms, PRP patients seek the expertise of specialized healthcare professionals:

✽  Opthamologist: ectropion (eyelids are turned outward) and impaired vision

✽  Podiatrist: impaired mobility

✽  Otorhinolaryngologist (ENT specialist):  impaired hearing, removal of ear wax (cerumen) from ear canal.

✽  Hepatologist: monitor impact of PRP treatment on the liver.

✽  Psychiatrists/Clinical Psychologist: depression and mental wellness

  •  PRP patient support resources: (see Resources) further information on patient care and tools see www.survivalguide.org

INVESTIGATIVE THERAPIES

The Department of Dermatology and Cutaneous Biology located at Sidney Kimmel Medical College at Thomas Jefferson University (Philadelphia, PA) began genetic research in October 2012 studying CARD14 gene mutations in relation to PRP. Dr Jouni Uitto, Professor and Chair of Dermatology, was part of an earlier research effort in Tel Aviv that did not find a causal relationship between these mutations and PRP, but did discover a “genetic basis” for PRP.  In July 2014, the genetic analysis research effort was expanded to include a clinical analysis component. The PRP Alliance helped recruit a cohort of over 100 PRP patients and Thomas Jefferson University has the full cooperation and support of the PRP community. Thomas Jefferson University is also seeking separate funding to build a PRP Patient Registry. No start date has been established. For information about PRP research, contact: www.prpSurvivalGuide.org.37

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD; Contact the NIH Patient Recruitment Office:

Toll free: (800) 411-1222
TTY: (866) 411-1010

Email: prpl@cc.nih.gov.

For information about clinical trials sponsored by private sources, contact: www.centerwatch.com.

NORD MEMBER ORGANIZATIONS

EURORDIS — Rare Diseases Europe
Plateforme Maladies Rares
96 rue Didot
Paris, 75014 France
Website: http://www.eurordis.org
Email: eurordis@eurordis.org

Foundation for Ichthyosis & Related Skin Types (FIRST)
2616 N Broad Street
Colmar, PA 18915 (USA)
Phone: (215) 997-9400 Toll-free: (800) 545-3286
Email: info@firstskinfoundation.org
Website: http://www.firstskinfoundation.org

PRP Alliance, Inc.
1500 Commerce Drive
Plano, TX 75093-2640 USA
Phone: (214) 205-0574
Email: bill.mccue@prpalliance.com
Website: http://www.prpAlliance.org

OTHER ORGANIZATIONS

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126, USA
Phone: (301) 251-4925 Toll-free: (888) 205-2311
Website: http://rarediseases.info.nih.gov/GARD/

PRP Center of Excellence
Department of Dermatology & Cutaneous Biology
of Thomas Jefferson University
833 Chestnut Street, Suite 740
Philadelphia PA 19107
Phone 216-955-6680
Email: PRP@jefferson.edu

PRP Community on RareConnect
Zürich, Switzerland; Barcelona, Spain
Website (PRP): www.rareconnect.org
Email:  rareconnect@prpSurvivalGuide.org

PRP Facebook Support Group
Virginia Beach, VA, USA
Website (PRP): www.facebook.com
Email: facebooksg@prpSurvivalGuide.org

PRP Survival Guide
Plano, TX, USA
Email: editor@prpalliance.com
Website: http://www.prpSurvivalGuide.org

REFERENCES

In the FINAL DRAFT, the references under the NORD-required headings: Textbooks, Journal Articles and From the Internet.

1. Griffiths WA. Edited version of the Dowling Oration delivered to the British Association of Dermatologists in Liverpool, England. March 2003. http://prpsurvivalguide.org/wp-content/uploads/2017/05/Dowling-Oration-2003-Liverpool-England.pdf Accessed August 7, 2017.

2. Paravina M, Ljubenovic M, Milosavljevic M, et.al. Pityriasis rubra pilaris: A report of two cases and literature review. https://www.degruyter.com/downloadpdf/j/sjdv.2015.7.issue-4/sjdv-2015-0016/sjdv-2015-0016.pdf. Serbian J Dermatol Venereol. 2015; 7 (4): 181-194 DOI: 10.1515/sjdv-2015-0016. Accessed August 7, 2017.

3. ICD!)Data.com.  http://www.icd10data.com/ICD10CM/Codes/L00-L99/L40-L45/L44-/L44.0 Accessed August 7, 2010.

4. British Association of Dermatologists. Pityriasis rubra pilaris leaflet. http://www.bad.org.uk/shared/get-file.ashx?id=116&itemtype=document  Updated May 2016. Accessed August 7, 2017.

5. PRP Survival Guide. Chapter 1 — The Basics.  http://prpsurvivalguide.org/2017/05/19/yayaya/?trashed=1&ids=3 Accessed August 7, 2017.

6. DermNet New Zealand. Pityriasis rubra pilaris.  www.dermnetnz.org/topics/pityriasis-rubra-pilaris/ Updated October, 2015. Accessed August 7, 2017.

7. Medscape.com. Pityriasis rubra pilaris. http://reference.medscape.com/article/1107742-overview Updated April 17, 2017. Accessed August 7, 2017.

8. Healthline.com. Pityriasis rubra pilaris.  http://www.healthline.com/health/pityriasis-rubra-pilaris#Introduction1 Reviewed June 9, 2016. Accessed August 7, 2017.

9. Genetic and Rare Disease Information Center. Pityriasis rubra pilaris. https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris Updated August 1, 2017. Accessed August 7, 2017.

10. National Eczema Association. Eczema Facts. https://nationaleczema.org/research/eczema-facts/ Accessed August 7, 2017.

11. National Psoriasis Foundation. About the National Psoriasis Foundation. https://www.psoriasis.org/about-us Accessed August 7, 2017.|

12, Genetic and Rare Diseases Information Center. Pityriasis rubra pilaris. https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris#ref_7262 Accessed August 7, 2017.

13. Tarral C. Observation CXVIII. In Rayer P :‘Traite theorique et pratique des maladies de la peau’, Paris: Bailliere:1835: 2,158-9.

14. Devergie MGA. Pityriasis rubra pilaris, maladie de peau non decrite par les dermatologists. Gazette Hebdomadaire de Med. et de Chirurg. 1856;3:197-201.

15. Richaud A,  Féré C. Etude sur le pityriasis pilaris [dissertation]. Paris: A Parent; 1877.

16. Besnier E. Observations pour server a l’histoire clinique du pityriasis rubra pilaire (pityriasis pilaris de Devergie et de Richaud). Ann Dermatol 2nd series 1889;10: 253-87, 398-427, 485- 544.

17. Healthline.com. Pityriasis rubra pilaris. http://www.healthline.com/health/pityriasis-rubra-pilaris#causes3 Reviewed June 9, 2016. Accessed August 7, 2017.

18. Healthline.com. Pityriasis rubra pilaris. http://www.healthline.com/health/pityriasis-rubra-pilaris#types2 Reviewed June 9, 2016. Accessed August 7, 2017.

19. Genetic and Rare Diseases Information Center. Pityriasis rubra pilaris.  https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris Accessed August 7, 2017

20. Medscape.com. Pityriasis rubra pilaris.   http://reference.medscape.com/article/1107742-overview#a5 Updated April 17, 2017. Accessed August 7, 2017.

21. MedlinePlus, US National Library of Medicine. Pityriasis rubra pilaris.  https://medlineplus.gov/ency/article/001471.htm Updated July 5, 2017. Accessed August 7, 2017.

22. New Medical.net. Pityriasis rubra pilaris skin condition. http://www.news-medical.net/health/Pityriasis-Rubra-Pilaris-Skin-Condition.aspx Updated May 26, 2016. Accessed August 7, 2017.

23. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). Understanding autoinflammatory diseases. https://www.niams.nih.gov/Health_Info/Autoinflammatory/default.asp January 2017. Accessed August 7, 2017.

24. Judge MR, McLean WHI, Munro CS. Disorders of keratinization. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s textbook of dermatology. 8th ed. Oxford: Blackwell Publishing Ltd; 2010. p. 19.1-19.122.

25. Sehgal VN, Srivastava G. (Juvenile) Pityriasis rubra pilaris. https://www.ncbi.nlm.nih.gov/pubmed/16650174 Int J Dermatol 2006;45(4):438-46. Accessed August 7, 2017. |

26. National Psoriasis Foundation.  https://rarediseases.org/organizations/national-psoriasis-foundation/  Accessed 2017.

27. National Eczema Association. https://nationaleczema.org Accessed 2017

28. eMedicineHealth. Allergic reaction. http://www.emedicinehealth.com/allergic_reaction/page2_em.htm#what_causes_an_allergic_reaction; 2017

29. eMedicine Medscape. http://emedicine.medscape.com/article/1107532-overview ; Reviewed April 12, 2016. Accessed August 7, 2017.

30. DermNet New Zealand. Introduction to fungal infections. https://www.dermnetnz.org/topics/introduction-to-fungal-infections/ 2003. Accessed August 7, 2017.

31. Lupus Foundation of America. http://www.resources.lupus.org/entry/what-is-lupus. Accessed August 7, 2017.

32. Cutaneous Lymphoma Foundation. https://www.clfoundation.org. Accessed August 7, 2017.

33. Committee on the Development of the Third Edition of the Reference Manual on Scientific Evidence, Committee on Science, Technology, and Law Policy and Global Affairs, FEDERAL JUDICIAL CENTER, National Academic Press, Washington, DC, page 214. https://www.fjc.gov/sites/default/files/2015/SciMan3D01.pdf Accessed August 7, 2017.

34. International Center for Toxicology and Medicine. From symptoms to liability: The distinct roles of differential diagnosis and causation assessment. http://www.ictm.com/Downloads/dri-causation.pdf. Accessed August 7, 2017

35. MedicineNet.com. Medical definition of differential diagnosis. http://www.medicinenet.com/script/main/art.asp?articlekey=2991 Reviewed May 13, 2016. Accessed August 7, 2017.

36. Ross NA, Chung H, Li Q, et al. Epidemiologic, Clinicopathologic, Diagnostic, and Management Challenges of Pityriasis Rubra Pilaris: A Case Series of 100 Patients. JAMA Dermatol. 2016:52(6):670-675. http://prpsurvivalguide.org/wp-content/uploads/2017/08/NARoss.PRP-Clinicopathologic_-Diagnostic_-Management1.pdf Accessed August 31, 2017.

37. PRP Survival Guide. Chapter 7 — PRP Research. http://prpsurvivalguide.org/2017/05/21/chapter-6-prp-research/ Updated August 1, 2017; Accessed August 7, 2017.

38. Li Q, Chung H, Ross N, et al. Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κB. J Invest Dermatol. 2015;135:1905–1908. http://prpsurvivalguide.org/wp-content/uploads/2017/08/JID-PRP-Polymorphisms-NF-KB.pdf Accessed August 31, 2017.

YEARS PUBLISHED

1988, 1989, 1999, 2007, 2017

The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.

National Organization for Rare Disorders (NORD)
55 Kenosia Ave., Danbury CT 06810 • (203)744-0100

Pityriasis Rubra Pilaris Draft for NORD

PRP Awareness Month

From the Editor…

My first PRP Awareness Day was November 28, 2012 and quite “unofficial” by any standards. It began with a phone call from my dermatologist’s office. I was told that the appearance of a red spot on my forehead on August 8 — nearly four months prior — had been the onset of pityriasis rubra pilaris. Like most PRP “newbies”, I spent the next few days searching the internet and learning what little there was to learn about PRP.

On November 1, 2013, I celebrated PRP Awareness Day once again. This time I sent out over 1,500 emails to PRP patients and caregivers and called the effort the PRP Worldwide Census. It had taken several months during the previous summer for me to review over 29,000 emails in the PRP Support Group Archive going back to 1997.  As I  collected email addresses I also “harvested” core information about the onset, diagnosis, and treatment of PRP.

November 6, 2014 was the first “official” observance of PRP Awareness Day. The date was selected to commemorate the signing of the Rare Diseases Act of 2002 that set the threshold for a rare disease. To be considered a rare disease in the U.S. a disease must have a patient population of less than 200,000. With approximately 800 “active” PRP patients in the U.S., we qualify as über rare.

November 6-8, 2015 was the first PRP Awareness Weekend and November 2016 was the first PRP Awareness Month. Both “celebrations” had a common thread:  each mobilized a predictably small cadre of dedicated PRP patient advocates who found a way get involved.

PRP Awareness Month 2017 has a relatively simple goal — to marshal the limited resources of the PRP community and make something meaningful happen in five areas:

✽  Revive the PRP Community newsletter
 Update the PRP Community Database
 Out reach effort to the dermatology departments in 500+ teaching hospitals
 Understand the role of dermatopathologists in the diagnosis of PRP
 Support PRP research at Thomas Jefferson University
 Publish a PRP Primer

Please review the six projects outlined below.
Your feedback is a appreciated.

1.  PRP Newsletter: On The Road…

Objective
To resurrect the PRP community’s original newsletter. A total of 24 issues (598 pages) of On the Road … Our Journey from Onset through Remission were published during the period April 2014 through October 2015.

Problem to be addressed
The PRP Alliance does not “push” information to the PRP community. We depend on PRP patients and caregivers to reach out via the the PRP Facebook Support Group with questions (posts) and access the PRP Survival Guide and PRP RareConnect Community and on a need-to-know basis.

Scope
The reformatted online newsletter will present a synopsis/overview of articles with links labeled READ MORE or FULL STORY. Topics will include:

✽  Diagnosing PRP
 Treating PRP
 Daily Life
 PRP Parents and Children
 PRP and Remission
 PRP Research
 PRP Advocacy

Methodology
The PRP Community will utilize Constant Contact to provide a weekly or bi-weekly update on issues related to the PRP.

Measuring Success
Success will be measured by the following:

 Our ability to publish 26 or 52 issues during the period November 1, 2017 through October 31, 2018.
 Increased number of subscribers


2.   2018 PRP Worldwide Census

Objective: To conduct a PRP Worldwide Census.

Problem to be addressed: The PRP Community Database currently tracks 1,584 PRP patients of which 651 (41%) are members of the PRP Facebook Support Group and 217 (14%) are members of the PRP Community on RareConnect. Unfortunately, the following information is currently missing.

✽  Missing email addresses: 557
 Missing locations: 468
 Missing onset dates: 868
 Missing onset ages: 933
 Missing diagnosis dates: 889
 Missing status: 927

Methodology: Use the technical resources of Constant Contact to solicit and protect information.

Financial Impact: The out-of-pocket costs associated wth the conduct of the 2018 PRP Worldwide Census are limited to a monthly prescription which provides for an unlimited number of surveys.

 Vendor: Constant Contact
 Subscription: $47.97 per month; $575.64 annual

Measuring Success:

✽  Reduction is the number of missing data points
 Increased membership in the PRP Facebook and RareConnect communities
 Identification of undeliverable email addresses.
✽  Creation of charts and tables


3.  PRP Dermatology Awareness Initiative

Objective
To conduct a outreach effort the dermatology departments of 500 teaching hospitals in the US.

Problem to be addressed
When a patient is diagnosed with PRP, the dermatologist — with rare exceptions — does not refer the patient to the PRP Alliance, PRP Facebook Support Group, the PRP Community on RareConnect or to the PRP Survival Guide. The PRP patient is typically referred to Dr. Google, Dr. Yahoo or Dr. Bing.

Scope
There are over 500 teaching hospitals in the U.S. with a dermatology department that includes faculty, clinicians, support staff and medical students.  The PRP Referral Outreach Program will advocate referral to the Genetic and Rare Diseases Information Center (GARD).

Methodology
This effort requires two First Class mailings to 500 teaching hospitals and a personal followup by a local PRP patient.

Mailings
(1)  Execute mailing to the list on Wednesday, October 18, 2017
(2)  Execute mailing to the list on Wednesday, November 1, 2017 to commemorate the start of PRP Awareness Month 2017.

Personal followup
(1)  Target 50 Departments of Dermatology at teaching hospitals in the U.S. where members of the PRP Facebook community are (a) currently being treated or (b) are within reasonable geographic proximity.

Measuring Success
The dermatology departments at teaching hospitals will be given the opportunity to “acknowledge and/or confirm” the efficacy of referring  of patients with rare skin disorders to  the Genetic and Rare Diseases Information Center


4.  PRP Research


Objective
To inspire and support PRP research efforts globally.

Problem to be addressed
It is critical that the PRP community participate in PRP research (ongoing and future)

Scope
Recruiting participants for research efforts associated with

✽  Thomas Jefferson University (Philadelphia, PA),
✽  Yale University School of Medicine (New Haven, CT),
✽  Oregon Health & Science University (Portland, OR) and the
✽  International Alliance of Dermatology Patient Organizations (Ottawa, Canada)

Methodology

 Integrate the recruitment of research participants within the PRP Worldwide Census effort.
 Raise funds to reimburse participants in genetic research at TJU for costs associated with supplying blood samples

Measuring Success
Success will be measured by the number of participants in ongoing and future PRP research.


5.  Diagnosing PRP Tutorial

Objective
To better understand the role played by dermatopathologists in the diagnosis of PRP.

Problem to be addressed
While some PRP patients enjoy a relatively quick diagnosis of PRP, many of us have had to suffer through a differential diagnosis that preceded the “official” PRP diagnosis. During that time either the wrong treatment was administered or the appropriate treatment delayed. Understanding the diagnosis of PRP would seem to be an important part of our journey from onset to remission,

Scope
Clinical observation of signs and symptoms
Biopsies and evaluation by dermatopathologists

Methodology
The first challenge is to locate one or more dermatopathologists who want to help write a lay language tutorial about the challenges of diagnosing a rare skin disorder, in general, and PRP in particular.

❑  American Society of Dermatopathology (ASDP)
❑  Ameripath
❑  Aurora Pathology
❑  Carepath DX
❑  Clinical Pathology Associates
❑  Cockerell Dermatopathology
❑  Dermpath Diagnostics
❑  Journal of Cutaneous Pathology (JCP)
❑  Miraco Life Sciences
❑  ProPath Dermatopathology
❑  Stanford Medicine Dermatopathology Service
❑  Quest Diagnostics
❑  UCSF Dermatopathology and Oral Pathology Service

Measuring Success
There are three deliverables— all to coincide with PRP Awareness Month 2017.

✽  Tutorial — Magazine format, downloadable PDF
✽  PowerPoint — Same information as the tutorial, but an alternate format
✽  Webinar — Combination of the PowerPoint and an interview with a dermatopathologist.


6.  PRP Primer — eBook

Objective
To repurpose the NORD PRP Report (revised 2017) as an eBook to coincide with Rare Disease Day (February 28, 2018).

Problem to be addressed
PRP patients and caregivers, family and friends, employers and coworkers, classmates, teachers , administrators and parents, and other healthcare professionals need access to information about PRP. The information must be easy to access, easy to read and easy to understand.

Scope
The eBook will follows the organization of the PRP Survival Guide.
✽  PRP Basics
✽  Diagnosing PRP
✽  Treating PRP
✽  Daily Life
✽  PRP and Remission
✽  PRP Research
✽  PRP Advocacy

Methodology
Take the NORD PRP Report and put more “meat on the bone” with extra pages and sidebars.
✽  PRP Patient Profiles
✽  Random stories
✽  Humour
✽  Expanded technical information
✽  Healing milestones
✽  Coping strategies

Measuring Success
Success will not be measured by the number of people who download the eBook during the period February 28 to November 30, 2018.. Success will be measured by actually publishing the eBook. This may be the “giveaway” for donations made to the PRP Alliance or to a special PRP-related project.

PRP Awareness Month Planning 

This is an automatic translation service and therefore the
PRP Survival Guide is not responsible
for any potential translation inaccuracies.

OPEN ACT — H.R. 1223 and Senate Bill 1509

From the Editor…

The OPEN ACT (Orphan Product Extensions Now, Accelerating Cures and Treatment) is on the radar of the PRP community. The official designations are H.R. 1223 in the U.S. House of Representatives and S. 1509 in the U.S. Senate.

The proposed legislation would provide an incentive for biopharmaceutical companies to repurpose medicines that treat common disease for rare diseases. We think it has the potential to double the number of FDA-approved treatments for rare disease (and much more quickly than traditional drug development since the process of adding a new indication is much less intensive than the review of a new potential therapy). I currently take medicine off-label for my rare disease, which means my doctor and I had no clinical data to look at when considering whether it was a good treatment option and my insurance company refuses to cover its use off-label. OPEN ACT could help on both points.

The EveryLife Foundation for Rare Diseases has prepared the following overview of OPEN ACT (HR 1223

Please Support the OPEN ACT (HR 1223 and S. 1509 )
Orphan Product Extensions Now, Accelerating Cures and Treatments

Congress should incentivize the repurposing of potentially life-saving approved drugs for rare diseases and pediatric cancers. Similar incentives have been critical in the development of new medicines for underserved patient populations and could lead to hundreds of safe, effective and affordable rare disease treatments within the next five years. The OPEN ACT is sponsored in the House (H.R. 1223) by Representatives Bilirakis (R-FL) and Butterfield (D-NC) and sponsored in the Senate (S. 1509) by Senators Orrin Hatch (R-UT) and Robert Menendez (D-NJ).

Issue

Despite advances made by the Orphan Drug Act, 95 percent of the 7,000 rare diseases still have no treatment approved by the Food and Drug Administration (FDA). Most rare disease patients are prescribed treatments off-label, at times with little clinical evidence and variable effectiveness. As a result, obtaining reimbursement for off-label treatments or procedures can be challenging for patients. Biopharmaceutical companies seldom consider repurposing approved therapies to treat rare diseases because there is little incentive for them to do so.

Solution

The OPEN ACT would establish a six-month marketing exclusivity extension, providing an incentive to a sponsor to repurpose an already approved therapy for a rare disease. The sponsor company would need to demonstrate that the repurposed therapy is safe and effective in treating the rare disease and obtain a rare disease indication from FDA on the drug label. The OPEN ACT is modeled on the highly successful Best Pharmaceuticals for Children Act (2002) that has led to more than 500 labeling changes for pediatric populations.

Background

Scientific literature shows that a single-targeted drug is likely to have multiple therapeutic uses and that biopharmaceutical companies can repurpose drugs for the treatment of different diseases. Repurposing drugs is faster, cheaper, and presents fewer risks than traditional drug development. For complex rare diseases with small patient populations, the current economic model of drug development often lacks financial viability. Utilizing targeted economic incentives has a proven track record of encouraging industry stakeholders to invest in the development of drugs for diseases with unmet need.

Outcomes

The OPEN ACT would leverage the investment already made by biopharmaceutical companies into the development of approved therapies by providing an economic incentive to explore ways to bring more treatments for rare diseases to the marketplace through the process of repurposing drugs, resulting in:

✽   Potentially hundreds of well-tested therapies approved and on the label for rare disease patients in the next five years.

✽  Major market drug prices, resulting in a reduction in the average cost of rare disease drugs.

✽  Fewer rare disease patients using untested and potentially ineffective drugs off–label.

✽  A surge in biotech investment, new jobs, and grants to research universities to conduct repurposing trials.

Among the 229 supporters…

The supporters highlighted in boldface type are members of the Coalition of Skin Diseases.

✽  American Behcet’s Disease Association
✽  Autoinflammatory Alliance
✽  Cutaneous Lymphoma Foundation
✽  Debra of America
✽  EveryLife Foundation for Rare Diseases
✽  Foundation for Ichthyosis & Related SkinTypes, Inc.
✽  International Pemphigus and Pemphigoid Foundation (IPPF)
✽  National Organization of Rare Disorders (NORD)
✽  PRP Alliance, Inc. (PRPA)
✽  Sturge-Weber Foundation

Click HERE for the full list of Open Act supporters

✽  As of March 3, 2017.  H.R. 1223 has been referred to the Subcommittee on Health

✽  As of June 29, 2017. Senate Bill 1509 has been read twice and referred to the Committee on Health, Education, Labor, and Pensions.

According to Stephanie Fischer, Senior Director, Patient Engagement and Communications, neither bill has been marked-up or the subject of a hearing. The health committees have been busy with healthcare reform and FDA user fee reauthorization.

OPEN ACT — H.R. 1223 and Senate Bill 1509

PRP & Nurse Case Managers

From the Editor…

I received a call from Carla, a heath care professional who identified herself as a Nurse Case Manager for BlueCross Blue Shield of Arizona. She was calling on behalf of a patient insured by BCBS who was recently diagnosed with pityriasis rubra pilaris. With just a hint of desperation she asked if there are ANY resources available to her the patient. I think my response went something like this: “Carla, you have stumbled upon the Mother Lode of PRP support.” She received an informed overview of PRP resources that included:
 
✽ PRP Facebook Support Group
✽ PRP Community on RareConnect
✽ PRP Survival Guide
✽ PRP Alliance, Inc.
 
Then it was my turn to ask Carla some questions. She told me that every insurance provider has Nurse Care Managers to help patients navigate benefits, treatment options, etc. Then and there I decided that the PRP community should learn more about Nurse Case Managers — and Nurse Case Managers at insurance companies should know more about us.

From CMSA …

“Today, more than 100,000 case managers practice in the United States, most of them nurses. That’s a tenfold increase from 1990, when there were 10,000 case managers. This profession is appealing to many nurses because it allows them to use their critical thinking skills and act as passionate patient advocates.” (1)

Since 1990, the Case Management Society of America, which has 7,500 members in the United States, has been the official organization for case managers in the United States and abroad.  (1)

According to CMSA, “case managers are advocates who help patients understand their current health status, what they can do about it and why those treatments are important.  In this way, care managers are catalysts by guiding patients and providing cohesion to other professionals in the health care delivery team, enabling their clients to achieve goals more effectively and efficiently. (2)

ED. NOTE: There are CMSA chapters throughout the U.S. The Dallas/Fort Worth Chapter is on my radar.

From Nursing Explorer …

Nursing Explorer is an education and career resource website created to provide comprehensive and up-to-date information for nursing students and professional nurses.

According to NursingExplorer.com, an education and career resource website created to provide comprehensive and up-to-date information for case management nurses are registered nurses who

✽  coordinate all aspects of the care of individual patients
✽  ensure proper utilization of services and resources
✽  provide assistance within, between, and outside of facilities
✽  obtaining resources
✽  work with patients, families and other professionals
✽  assess, plan, implement, and evaluate patient care and the use of resources. ✽  they monitor quality of care to ensure that infection control (3)

From Nurses.com …

In a recent interview, Kathleen Moreo, RN, and president of the Case Management Society of America, describes this dynamic profession and offers advice for how nurses can join this exciting field.

Q.  Why are more nurses seeking to become case managers?

A.  In today’s healthcare environment, nurses see patients who are lost in the healthcare maze and find that no one is addressing family dynamics.

Q.  What attributes do the best case managers possess?

A.  First and foremost, the best case manager will be an excellent patient advocate.  A nurse who is a good educator will also do well as a case manager because educating patients and their families to empower them is a big part of what we do.

Collaboration is another big attribute. Case managers must know how to get physicians and other members of the healthcare team to work together with them.

Q.  What is the definition of case management?

A.  Case management is a collaborative process which assesses, plans, implements, coordinates, monitors and evaluates options and services to meet an individual’s health needs through communication and available resources to promote quality, cost-effective outcomes. 

Q.  In what kinds of settings do case managers work?

A.  Some work over the phone; others are out in the community visiting patients’ home and meeting with their families. Some work for insurance companies or a vast array of providers; still others are independent contractors. (4)

From VeryWell.com …

Has your health insurance company assigned you a case manager?

“A health insurance company’s case manager receives information from hospital case managers, home health care companies, physician’s offices, social workers and other health care providers. Depending on the insurer and the location, nurse case manager may even visit a patient in the hospital.

Is the patient getting medically necessary care, quality care, and that the care is being delivered as efficiently and economically as possible.? The goal is to  anticipate the patient’s future health care needs and try to put in place mechanisms to meet those needs as efficiently as possible.” (5)

Path Forward

Here are some questions for the PRP community to pander:

✽  Since every insurance provider has case managers in their employ, how many PRP patients/caregiver have actually been assigned a nurse case manager? Sounds like we need to ask. A survey?

✽  If there are over 100,000 case managers in the U.S., how many are as smart as Carla at BlueCross BlueShield in Arizona  who found the PRP Alliance in the NORD rare disease database? Since the PRP Alliance is a member of the National Organization of Rare Disorders, should we take steps to inspire to NORD to consider an advocacy effort to educate CSMA’s 100,000 members?

(1)  Case Management Society of America; http://www.cmsa.org

(2)  Case Management Society of America; http://www.cmsa.org

(3)  Nursing Explorer ; http://www.nursingexplorer.com/careers/case-management-nurse

(4)  Professional Perspectives: Case Management–Coordinating Care from Start to Finish; Kelly Healthcare Resources, Larisa Hubbs, author;   https://www.nurses.com/doc/professional-perspectives-case-management-coo-0001

(5)  VeryWel.com; What does a case manager do?; https://www.verywell.com/what-does-a-case-manager-do-1738560

PRP & Nurse Case Managers

PRP Community Nominates Editorial Advisory Board

From the Editor…

On July 17, 2017, the PRP Facebook Community was given an opportunity to identify PRP-savvy dermatologists to participate in a PRP Community research project.  The goal was to identify at least 10 PRP patients/caregivers who have a WORKING relationship with their dermatologists. By WORKING relationship we meant that the PRP patient/caregivercould ask their dermatologist to read something about PRP and then tell you if it is accurate or not. And if something is incorrect, offer a better answer.

What will they be reading? The draft of the 2017 revision of the PRP Report maintained by the National Organization of Rare Disorders in their Rare Disease Database. The current NORD PRP Report was last reviewed in 2007 and is in need of updating.

A total of 11 dermatologists have been nominated: six from the U.S. and one each from Canada, Switzerland, Spain, The Netherlands and the UK.

Bill M — Plano, TX
(1)   Arturo Dominguez, MD, Associate Professor
Department of Dermatology
University of Texas Southwestern
Dallas, TX
(2)   Teri Greiling, M.D., Ph.D., Assistant Professor of Dermatology
Oregon Health Science University
Portland, OR

Tierney R — Virginia Beach, VA & Richard L — Lansdale, PA
(3)   Matt Keller, MD, Assistant Professor,
Sidney Kimmel Medical College at Thomas Jefferson University
Department of Dermatology and Cutaneous Biology Department,
Philadelphia, PA

Christine G — Zürich, Switzerland(4)   Dr. Martin Theiler, MD, Consultant of Paediatric Dermatology
Department of Dermatology
Zürich University Hospital
Zürich, Switzerland

Ginny M — Lexington, SC
(5)   Jessica Burgy, MD
Columbia Dermatology
Columbia, SC

Jane G — Vancouver, British Columbia, Canada(6)   Julie Prendenville, MB, Division Head
Division of Pediatric Dermatology
British Columbia Children’s Hospital
Vancouver, British Columbia, Canada

Craig W — Sheffield, England, UK
(7)   Margaret Wood, MD, Dermatology Consultant
The Rotherdam NHS Foundation Trust
Dermatology Department
Rotherham, England

Karen B — Rochester, NY
(8)   Nanna Duffy, MD
Genesee Valley Laser Center
Rochester, NY

Jandina G — Portland, OR
(9)   Dr. Nicole Fett, Associate Professor of Dermatology; Director, Dermatology Residency Program
Department of Dermatology
Oregon Health Science University
Portland, OR

Diego T — Barcelona, Spain
(10)   Jesus Gonzalez Rupérez, MD
Hospital de Viladecans
Barcelona. Spain

Aditia F — Arnhem, Netherlands
(11)   Dr. Marieke Seyger, MD, Ph.D
Department of Dermatology
Radboud University
Nijmegen Medical Centre
Nijmegen, the Netherlands

First things first. The FIRST draft of the 2017 revision is ready for review by ANYONE in the PRP community. The review process begins with an invitation. It’s the first step.  When enough PRP patients and caregivers have read the revision and offered comments, a SECOND draft is written and given to the Editorial Advisory Board. Based on their comments and suggestions, a third and FINAL draft is prepared and given to the National Organization of Rare Disorders. They make the final edits and post the 2017 revision.

PLEASE CLICK HERE TO TAKE THE FIRST STEP
PRP Community Nominates Editorial Advisory Board

RDB — Diagnosis

From the Editor…

Please use the “Leave a Reply” comment box on this webpage to offer your suggestions, identify errors of omission and commission, or to make ANY comments that might help us create a more useful guide for the PRP community.

Diagnosis

A medical diagnosis is based on information from sources such as findings from a physical examination, an interview with the patient or family or both, a medical history of the patient and family, and clinical findings as reported by laboratory tests and radiologic studies.

A differential diagnosis is a process of weighing the probability of one disease versus that of other diseases.  It represents an alternative diagnosis that precedes the enlightened diagnosis of pityriasis rubra pilaris.

Pityriasis rubra pilaris is not easy to diagnose. In March 2003, English dermatologist Dr. Andrew Griffiths reinforced that fact when he titled his Dowling Oration to the British Association of Dermatologists “Pityriasis Rubra Pilaris — The Scarlet Pimpernel”. Griffiths quoted Baroness Orczy’s character who says: “They seek him here, they seek him there, that damned elusive Pimpernel.” We agree with Griffiths, “This disease remains an enigma.” (2)

The Diagnostic Role of the Dermatologist

CLINICAL OBSERVATION is where it all begins. What symptoms are visible to the dermatologist in the examination room?A dime-sized red spot on a forehead can reasonably be diagnosed as seborrheic dermatitis. Similarly, a patient “in full bloom” presenting with 90% coverage, islands of sparing and other key indicators might be more than enough to awaken a memory of a grand rounds experience six years earlier in medical school, a textbook or a prior patient.

The Diagnostic Role of the Dermatopathologist

THE MICROSCOPE is where the clinical observations are either supported or not. Biopsies sent to a dermatopathologist are often used to “rule out” specific skin maladies or causes. The PRP community has learned from shared experiences — albeit anecdotal — that when the dermatologist suspects PRP and instructs the dermatopathologist to “consider PRP”, that the findings support the clinical observations.

Differential Diagnosis

A differential diagnosis is the method by which a physician determines what disease process has caused a patient’s symptoms. The physician considers all relevant potential causes of the symptoms and then eliminates alternative causes based on a physical examination, clinical tests and a thorough case history. (3)

“A differential diagnosis is a quest for a diagnosis. What is wrong with the patient internally? It is not, inherently, a search for the ultimate cause (critical to liability) of that disease process or disorder.” (4) It is “the process of weighing the probability of one disease versus that of other diseases possibly accounting for a patient’s illness.”(5)

 

(1)   Griffiths WA. Edited version of the Dowling Oration delivered to the British Association of Dermatologists in Liverpool, England. March 2003. http://prpsurvivalguide.org/wp-content/uploads/2017/05/Dowling-Oration-2003-Liverpool-England.pdf Accessed August 7, 2017.

(3) Committee on the Development of the Third Edition of the Reference Manual on Scientific Evidence, Committee on Science, Technology, and Law Policy and Global Affairs, FEDERAL JUDICIAL CENTER, National Academic Press, Washington, DC, page 214; https://www.fjc.gov/sites/default/files/2015/SciMan3D01.pdf Accessed August 7, 2017.

(4) International Center for Toxicology and Medicine. From Symptoms to Liability: The Distinct Roles of Differential Diagnosis and Causation Assessment. http://www.ictm.com/Downloads/dri-causation.pdf. Accessed August 7, 2017/

(5) MedicineNet.com. Medical definition of differential diagnosis.  http://www.medicinenet.com/script/main/art.asp?articlekey=2991 Reviewed May 13, 2016. Accessed August 7, 2017.

CLICK HERE to return to the Revision INDEX

2017 NORD PRP Report Revision

RDB — Causes

From the Editor…

Please use the “Leave a Reply” comment box on this webpage to offer your suggestions, identify errors of omission and commission, or to make ANY comments that might help us create a more useful guide for the PRP community.

Causes

The specific underlying cause of PRP is unknown, although genetic factors, an abnormal immune response, or vitamin A deficiency may be involved. (1), (2), (3), (4), (5).

PRP is an autoinflammatory disease, “a relatively new category of diseases that are different from autoimmune diseases. However, autoimmune and autoinflammatory diseases share common characteristics in that both groups of disorders result from the immune system attacking the body’s own tissues, and they also result in increased inflammation.“When your body is attacked — perhaps by a virus or other germs — your immune system defends you. It “sees” and kills the germs that might hurt you.

“But when the system doesn’t work right, this process can cause harm. Immune cells can mistake your body’s own cells as invaders and attack them. This “friendly fire” can affect almost any part of the body. It can sometimes affect many parts of the body at once. This is called “autoimmunity” (meaning “self-immunity”).

“The part of the immune system that orchestrates all of this develops as a person grows and is known as the acquired immune system. It “remembers” foreign antigens, or proteins, so that it can fight them if they come back. It employs white blood cells called lymphocytes.

“But the body also has an innate (inborn) immune system that is more primitive. It employs types of white blood cells called granulocytes and monocytes to destroy harmful substances. In autoinflammatory diseases, this innate immune system causes inflammation for unknown reasons. It reacts, even though it has never encountered autoantibodies or antigens in the body.

“Autoinflammatory disorders are characterized by intense episodes of inflammation that result in such symptoms as fever, rash, or joint swelling. These diseases also carry the risk of amyloidosis, a potentially fatal buildup of a blood protein in vital organs.” (6)

(1) Healthline.com. Pityriasis rubra pilaris. http://www.healthline.com/health/pityriasis-rubra-pilaris#types2 Reviewed June 9, 2016. Accessed August 7, 2017.

(2) Genetic and Rare Diseases Information Center. Pityriasis rubra pilaris.  https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris Accessed August 7, 2017

(3)  Medscape.com. Pityriasis rubra pilaris.   http://reference.medscape.com/article/1107742-overview#a5 Updated April 17, 2017. Accessed August 7, 2017.

(4) MedlinePlus, US National Library of Medicine. Pityriasis rubra pilaris.  https://medlineplus.gov/ency/article/001471.htm Updated July 5, 2017. Accessed August 7, 2017.

(5)  New Medical.net. Pityriasis rubra pilaris skin condition. http://www.news-medical.net/health/Pityriasis-Rubra-Pilaris-Skin-Condition.aspx Updated May 26, 2016. Accessed August 7, 2017.

(6) National Institute of Artritis and Musculoskeletal and Skin Diseases (NIAMS). Understanding autoinflammatory diseases. https://www.niams.nih.gov/Health_Info/Autoinflammatory/default.asp January 2017. Accessed August 7, 2017.

CLICK HERE to return to the Revision INDEX

2017 NORD PRP Report Revision