Editor’s Note: The PRP Report is published by the Genetic and Rare Disease (GARD) Information Center. A “Translation Version” using Google Translate functionality is provided here to accommodate PRP patients and their caregivers.
Pityriasis rubra pilaris
In most cases, PRP is not inherited and the cause is not known. In some people, particularly some with type V (the “atypical juvenile type”), PRP has autosomal dominant inheritance and may be caused by mutations in the CARD14 gene. Treatment options vary based on symptoms and severity. No one treatment works for all people with PRP. Examples of treatment options include topical emollients or medications, oral retinoids, and/or immunosuppressants.
Features of this condition vary greatly from person to person. Signs and symptoms often get worse over time and may affect the skin, nails, mucous membranes, and eyes. Signs and symptoms may include:
✻ Redness and scaling of the skin and scalp, which often develops into itchy, orange-red plaques. Plaques may first occur on only some parts of the body, but may eventually spread over the whole body. The elbows, knees, ankles, hands and feet are most commonly affected.
✻ Thickening of the skin on the palms and soles (palmoplantar keratoderma).
✻ Thickening, discoloration, or shedding of the nails.
✻ Thinning of the hair.
✻ Plaques and irritation in the mouth.
✻ Dryness of the eyes and/or ectropion (outward turning of the eyelid).
✻ Reduced quality of life associated with persistent pain, itching, or sleep disturbances.
Information about the types of PRP and how they differ is available from DermNet New Zealand.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Thickening of palms and soles
|30%-79% of people have these symptoms|
Thickened, discolored skin under nail
|5%-29% of people have these symptoms|
|Abnormal oral cavity morphology||
Abnormality of the oral cavity
Eyelid turned out
|Percent of people who have these symptoms is not available through HPO|
|Autosomal dominant inheritance||0000006|
Onset in first year of life/infancy
Last updated: 10/30/2017
The severity and course of the condition varies depending on the type of PRP a person has. PRP may go away on its own, have periods of remission (when symptoms improve or go away), improve over time, or it may be chronic (long-lasting). In some cases, the condition goes away and then returns (relapses) after therapy is stopped. The following is a general overview of what to expect with each type:
✻ Type I (classic adult type), the most common type, goes away on its own within 3 years in about 80% of people. After it goes away, relapses are uncommon.
✻ Type II (atypical adult type) can last for a very long time, sometimes more than 20 years.
✻ Type III (classic juvenile type) usually goes away within one year. Rarely, this type persists for a longer period of time.
✻ Type IV (circumscribed juvenile) may be associated with alternating periods of getting better and worse. About one-third of people with this type have improvement with age.
✻ Type V (atypical juvenile type) is usually chronic.
✻ Type VI (HIV-associated) tends to be resistant to most treatments.
PRP can significantly affect quality of life, especially if there is ongoing pain, itching, or sleep problems.People with PRP have a normal life expectancy.
Find a Specialist
Clinical Research Resources The PRP Alliance includes information on current research for pityriasis rubra pilaris within the PRP Survival Guide.
Organizations Supporting this Disease
✻ Foundation for Ichthyosis and Related Skin Types (FIRST) 2616 North Broad Street Colmar, PA 18915 Toll-free: 1-800-545-3286 Telephone: +1-215-997-9400 E-mail: email@example.com Website: http://www.firstskinfoundation.org/1500 Commerce DrivePlano, TX 75093-2640Telephone: 214-205-0574
✻ DermNet New Zealand is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
✻ Genetics Home Reference (GHR) contains information on Pityriasis rubra pilaris. This website is maintained by the National Library of Medicine.
✻ The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
✻ The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
✻ Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
✻ The Merck Manual for health care professionals provides information on Pityriasis rubra pilaris.
✻ The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
✻ Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
✻ Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
✻ PubMed is a searchable database of medical literature and lists journal articles that discuss Pityriasis rubra pilaris. Click on the link to view a sample search on this topic.
(1) Pityriasis rubra pilaris. MedlinePlus. April 15, 2015; http://www.nlm.nih.gov/medlineplus/ency/article/001471.htm.
(2) Oakley A. Pityriasis rubra pilaris. DermNet New Zealand. October, 2015; https://www.dermnetnz.org/topics/pityriasis-rubra-pilaris/.
(3) Pityriasis Rubra Pilaris. National Organization for Rare Disorders (NORD). 2017; https://rarediseases.org/rare-diseases/pityriasis-rubra-pilaris.
(4) Katsambas A and Dessinioti C. Pityriasis rubra pilaris. UpToDate. Waltham, MA: UpToDate; March 10, 2017; https://www.uptodate.com/contents/pityriasis-rubra-pilaris.
(5) Shenefelt PD. Pityriasis Rubra Pilaris. Medscape Reference. April 17, 2017; http://emedicine.medscape.com/article/1107742-overview.
(6) Takeichi T, Sugiura K, Nomura T, et al.. Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations. JAMA Dermatol. January 1, 2017; 153(1):66-70. https://www.ncbi.nlm.nih.gov/pubmed/27760266.
(7) Lwin SM, Hsu CK, Liu L, Huang HY, Levell NJ, McGrath JA. Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14. Br J Dermatol. March 16, 2017; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/28301045.
(8) Familial Pityriasis Rubra Pilaris. Genetics Home Reference. March, 2013; http://ghr.nlm.nih.gov/condition/familial-pityriasis-rubra-pilaris.
(9) O’Neill MJF. Pityriasis Rubra Pilaris; PRP. Online Mendelian Inheritance in Man (OMIM). July 31, 2012; https://www.omim.org/entry/173200.