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

RDB — An Invitation

TO:    PRP patients, PRP caregivers and PRP-savvy dermatologists

FROM:    Bill McCue, Editor, PRP Survival Guide

SUBJECT:   2017 Revision of the NORD PRP Report

The National Organization of Rare Disorders maintains a Rare Disease Database to provide brief introductions for patients and their families to more than 1,200 rare diseases — including pityriasis rubra pilaris. The NORD website enjoys one million visitors per month, 85% of whom access the rare disease database.. The PRP community is indeed fortunate to have “our disease” listed.

NORD works very hard to keep their Rare Disease Database as up-to-date and accurate as possible. Their efforts include having rare disease reports periodically revised and reviewed by MDs with expertise on the topic. The NORD PRP report was first published in 1988 and subsequently reviewed in 1989, 1999 and most recently in 2007.

Would you like to participate in the  2017 Revision of the NORD PRP Report? If you answer is YES, then the first step is to read the NORD PRP Report (circa 2007).

If you are a PRP patient and caregiver…

(1) NORD’ disease reports are geared toward patients and families.

(2) NORD’ disease reports should present information in a manner that is  simple, straightforward and understandable as possible.

If you are a PRP-savvy dermatologist …

(1) NORD’ disease reports also target an important secondary audience, e.g.,  physicians, researchers, nurses, students, journalists and others who might request and benefit from NORD information.

Reviewing NORD’s PRP Report (circa 2007) is the first step in the 2017 revision process.  When you have complete read the disease report, please click the link to the Revision Index.

It’s time to take the first step. Thanks for being part of this process.

Pityriasis Rubra Pilaris

Synonyms of Pityriasis Rubra Pilaris

✽  Devergie Disease
✽  Lichen Acuminatus
✽  Lichen Psoriasis
✽  Lichen Ruber Acuminatus
✽  Pityriasis Pilaris
✽  PRP

General Discussion

Pityriasis rubra pilaris (PRP) is a chronic skin disorder that is possibly caused by an inherited metabolic defect. Initially, the disorder is characterized by elevated spots (papules) on the skin. These spots grow and become connected, producing red plaques over large areas.

Signs & Symptoms

PRP is initially characterized by skin lesions described as, sharply pointed, horn-like, brownish-red to rosy yellow- colored papules. These papules usually occur on the back of the wrists, the outside of the forearms, underarm folds, elbows, knees, backs of the hands, and fingers. When the papules grow and connect together they produce dry, scaly, rough, red plaques over large areas of the skin. Gray, brittle nails and excessive oiliness of the glands on the scalp (seborrhea) and face may also occur. Often the edges of the eyelids are turned outward (ectropion).

Causes

The specific underlying cause of PRP is unknown. Researchers indicate that the condition may be hereditary or acquired. In many patients, PRP appears to occur randomly for no known reason (sporadically). However, in some affected individuals, evidence suggests that the disorder may be inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females. In some individuals, the disorder is due to a spontaneous (de novo) genetic mutation that occurs in the egg or sperm cell. In such situations, the disorder is not inherited from the parents.

Some researchers suggest that PRP may result from abnormalities in vitamin A metabolism. (Metabolism refers to the chemical processes occurring in the body.) However, such research has not been definitive, necessitating further investigation.

Affected Populations

PRP is a rare disorder that may develop during childhood or adulthood. The condition appears to occur in males and females in relatively equal numbers. Reported cases include several affected individuals in a number of multigenerational families (kindreds) as well as isolated instances of the disorder.

Related Disorders

PRP tends to follow a natural waxing and waning course, with episodes in which there is periodic worsening (exacerbation) or cessation (remission) of symptoms. As a result, according to many researchers, it may be difficult to evaluate the effectiveness of particular therapies. However, standard therapy for the condition typically includes treatment with vitamin A or synthetic vitamin A compounds (retinoids) administered topically or by mouth (orally). Synthetic retinoids prescribed for the treatment of PRP may include isotretinoin or etretinate. Low-dose methotrexate, an antineoplastic drug that is often used to fight abnormal cell proliferation, may be prescribed for some patients.

Investigational Therapies

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:

Tollfree: (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

Foundation for Ichthyosis & Related Skin Types

2616 N Broad Street
Colmar, PA 18915
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.com

Other Organizations

Genetic and Rare Diseases (GARD) Information Center

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

Pityriasis Rubra Pilaris Support Group

Email: rgreene@temple.edu
Website: http://www.prp-support.org

References

TEXTBOOKS

Harrison’s Principles of Internal Medicine, 14th Ed.: Anthony S. Fauci et al., Editors; McGraw-Hill Companies, Inc., 1998. P. 313.

Nelson Textbook of Pediatrics, 15th Ed.: Richard E. Behrman, Editor; W.B. Saunders Company, 1996. Pp. 1866-67.

JOURNAL ARTICLES

Pityriasis Rubra Pilaris, Vitamin A and Retinol-Binding Protein: A Case Study: P.C. van Voorst Vader et al.; Acta Derm Venereol (1984; 64(5)). Pp. 430-32.

Childhood-Onset Pityriasis Rubra Pilaris with Immunologic Abnormalities. D. Shvili et al.; Pediatr Dermatol (May 1987; 4(1)). Pp. 21-23.

Isotretinoin Treatment of Pityriasis Rubra Pilaris. C.H. Dicken; J Am Acad Dermatol (Feb 1987; 16(2 Part 1)). Pp. 297-301.

Early Presentation of Pityriasis Rubra Pilaris. S.E. Caplan et al.; Cutis (Dec 1997; 60(6)). Pp. 291-96.

Adult Pityriasis Rubra Pilaris: A 10-Year Case Series. B.D. Clayton et al.; J Am Acad Dermatol (Jun 1997; 36(6 Pt 1)). Pp. 959-64.

Pityriasis Rubra Pilaris: A Retrospective Analysis of 43 Patients. K.B. Sorensen et al.; Acta Derm Venereol (Sep 1999; 79(5)). Pp. 405-06.

Pityriasis Rubra Pilaris. M.R. Albert et al.; Int J Dermatol (Jan 1999; 38(1)). Pp. 1-11.

FROM THE INTERNET

Online Mendelian Inheritance in Man (OMIM). Victor A. McKusick, Editor; Johns Hopkins University, Last Edit Date 6/13/95. Entry Number 173200.

Years Published

1988, 1989, 1999, 2007

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.

The content of the website and databases of the National Organization for Rare Disorders (NORD) is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. Individuals may print one hard copy of an individual disease for personal use, provided that content is unmodified and includes NORD’s copyright.

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55 Kenosia Ave., Danbury CT 06810 • (203)744-0100

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RDB — An Invitation

RDB — Signs & Symptoms

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.

Signs & Symptoms

The terms “sign” and “symptom” are not redundant. A SIGN is subjective, e.g., pain, itching, fatigue. The PRP patients must share that information with the dermatologist, dermatology physician assistant or dermatology nurse.  In contrast, a SYMPTOM  can be observed by others, including healthcare  professionals. The following is a list of SIGNS and SYMPTOM that define the PRP experience.

Pre-onset Signs

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

Onset of Symptoms

Depending on the advance of inflammation, a general practitioner or dermatologist will see symptoms including pink, red, or orange-red scaly patches on your skin. The patches are usually itchy. You may have the scaly patches only on some parts of your body. They most often occur on the elbows, knees, hands, feet, and ankles. The skin on the palms of your hands and the soles of your feet may also become red and thickened. The scaly patches may eventually spread over the entire body. (1)

Cracks may develop which can be painful and make walking and using the hands difficult. The nails may become thickened and discoloured at the free nail edge and may show linear black streaks (splinter haemorrhages). The hair may thin considerably. (2)  Shivering, heat and fluid loss may occur if the rash covers large areas of skin. (3) The onset of PRP may be further exacerbated if a misdiagnosis of psoriasis or eczema, for example, results in an improper treatment option. (4)

Acute Stage Signs and Symptoms

The dermatologist will be able to see the symptoms of a  body engulfed by dry, red and flaking skin, swollen feet and legs and cracked and bleeding feet. There may be serious issues related to impaired mobility, eyes and vision, and dexterity. The PRP patient will see signs of PRP from a different perspective, e.g., pain of motion, unrelenting itch, the impact of cold, heat and sleep deprivation. The Acute Stage poses the greatest challenge to body, mind and spirit and can last less than a month or 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. (4)

Management Stage

After the Acute Stage, the journey of a PRP patient takes on a new focus — mitigating symptoms. All the potential irritants are waiting on the roadside, e.g., joint pain, clogged ears, disability claims, etc. While 90% of the PRP patient population can look forward to full remission within one to four or 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 unpleasantries of this skin disorder cannot be ignored.

Remission & Healing Milestones

There does not appear to be an official definition of remission as it applies to pityriasis rubra pilaris. For some it means no meds, no signs and no symptoms. Others are told they are in remission by their dermatologist during their last clinic visit. Other believe that sustained improvement with an acceptable quality of life is all that is required for a declaration of remission.

The PRP community, however, has adopted a more celebratory approach with recognition of healing milestones, e.g., the return of sweat, the first trip to Walmart for groceries, dark hardwood floors that don’t need hourly vacuuming. These milestones are signs of healing that PRP patients and caregivers feel and symptoms that everyone else observes.

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

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

(3)  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.

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

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2017 NORD PRP Report Revision

RDB — Synonyms & Subdivisions

From the Editor…

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Synonyms

PRP
Devergie’s Disease
lichen acuminatus 
lichen ruber acuminatus
pityriasis rubra pilaire (Fr.)
lichen ruber pilaris

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)   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 Journal of Dermatology and Venereology 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

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RDB — Summary

From the Editor…

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Summary

Pityriasis rubra pilaris (PRP) is a group of rare skin disorders that cause inflammation and shedding of the skin.  The name means scaling (pityriasis), redness (rubra) and involvement of the hair follicles (pilaris).  (1)

Typically, PRP appears first as a small spot somewhere on the body and then spreads elsewhere. (2)

It will impact different parts of the body in different ways for unpredictable periods of time. (2) The inflammation may cover the entire body or just parts of the body such as the elbows and knees, palms and soles. (3) The disease may progress and leave distinct areas of uninvolved skin, the so-called islands of sparing. (4)

The disorder may start in childhood or adulthood. It affects males and females equally. (5)

There are several types of PRP, which are classified based on age of onset, body areas affected, and whether other associated conditions are present. PRP is usually sporadic (occurring randomly) but some forms may be inherited. (6)

With an estimated 800-plus “active” patients in the U.S. and less than 1,900 in Europe, PRP is an ultra-rare skin disorder. 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) (7) (8)

The treatment of PRP typically involves a combination of 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 people need systemic therapy to control the condition.

Currently there are no treatments approved by the US Food and Drug Administration (FDA) or the European Medicines Agency (EMA) for use in PRP. (9)

PRP patients and their caregivers quickly learn that every case of PRP is unique. (1)

(1) 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.

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

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

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

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

(6)  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.

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

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

(9) 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

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2017 NORD PRP Report Revision

RDB — Investigative Therapies

From the Editor…

With one notable exception, the status of PRP research is a source of concern among the PRP patient population. A search of ClinicalTrials.gov, for example, retrieves only one entry. A pilot study to determine the efficacy of a biologic medication was started at Icahn School of Medicine at Mount Sinai in New York. They registered their study in December 2008 and terminated it within a year for lack of enrollment.

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Investigative Therapies

The Department of Dermatology and Cutaneous Biology located at Sidney Kimmel Medical College at Thomas Jefferson University (Philadelphia) began genetic research in October 2012 studying CARD14 gene mutations in relation to PRP.  Dr. Jouni Uitto, Chair, 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.

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) 411-1222TTY: (866) 411-1010E; mail: prpl@cc.nih.gov. For information about clinical trials sponsored by private sources, contact: www.centerwatch.com.

(1)  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.

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RDB — Investigative Therapies