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GARD PRP Report — Translation Version

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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

Summary

Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin.[1] People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas.[2][3] Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair.[4] There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present.[2][5] This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP).[4]

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.[6][7] 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.[2][4][5]

Last updated: 10/30/2017

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.[2] 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.[4] The elbows, knees, ankles, hands and feet are most commonly affected.[2]

❏» Thickening of the skin on the palms and soles (palmoplantar keratoderma).[5]

❏» Thickening, discoloration, or shedding of the nails.[5]

❏» Thinning of the hair.[4]

❏» Plaques and irritation in the mouth.[5]

❏» Dryness of the eyes and/or ectropion (outward turning of the eyelid).[5]

❏» Reduced quality of life associated with persistent pain, itching, or sleep disturbances.[3]

Information about the types of PRP and how they differ is available from DermNet New Zealand.

Last updated: 10/30/2017

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
Learn More:
HPO ID
80%-99% of people have these symptoms
Erythroderma 0001019
Irregular hyperpigmentation 0007400
Palmoplantar keratoderma
Thickening of palms and soles
 0000982
Papule 0200034
30%-79% of people have these symptoms
Pruritus
Itching
 0000989
Subungual hyperkeratosis
Thickened, discolored skin under nail
 0008392
5%-29% of people have these symptoms
Abnormal oral cavity morphology
Abnormality of the oral cavity
 0000163
Ectropion
Eyelid turned out
 0000656
Eczema 0000964
Ichthyosis 0008064
Lichenification 0100725
Neoplasm 0002664
Pustule
Pimple
 0200039
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Erythematous plaque 0025474
Hypergranulosis 0025114
Infantile onset
Onset in first year of life/infancy
 0003593
Keratosis pilaris 0032152
Orthokeratosis 0040162
Parakeratosis 0001036
Last updated: 10/1/2020
In the vast majority of people with PRP, the cause is unknown.[2] Most cases are thought to result from a combination of unknown genetic factors and environmental triggers.[3] Rarely, PRP is due to changes (mutations) in a gene called CARD14.[8][9][6] Mutations in this gene are found particularly in people with PRP type V. This gene gives the body instructions for making a protein involved in regulating the body’s immune responses and inflammatory reactions. While the protein is present in many of the body’s tissues, it is found in great amounts in the skin. Mutations in this gene are thought to trigger an abnormal inflammatory response, leading to the signs and symptoms of PRP.[8]
Last updated: 10/30/2017
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.Testing Resources
The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
PRP can be difficult to treat and many treatment options have been tried. There is little information on which treatments are best because none have been studied in large clinical trials. Treatment options may vary based on the symptoms in each person but often involve a combination of medicines taken internally and applied topically to the skin.[2] Topical therapy options may include corticosteroids, keratolytics, calcipotriol, tretinoin, and tazarotene. For people with mild PRP, using one or more of these may be enough to control symptoms.[4] Most people with PRP also need additional medicines to control their symptoms, especially if the condition affects a large part of the body.[4] Oral retinoids are usually tried first.[4] Examples include acitretin and isotretinoin.[5] Methotrexate, an immune system suppressant, may be tried when oral retinoids are not safe for a particular person, or when they have stopped working.[4] Other immune system suppressants that have been helpful in some case reports include cyclosporine and azathioprine.[4][5] Biologic therapies may be another option, based on limited data. Examples include various biologic TNF-alpha inhibitors and ustekinumab.[5] For more detailed information about treatment options for PRP, you can view information from Medscape Reference or the National Organization for Rare Disorders (NORD). Many of these treatments have shown results in only a few patients, and some can have serious side effects. The risks and benefits of each treatment option should be discussed with your doctor.

Last updated: 10/30/2017

The severity and course of the condition varies depending on the type of PRP a person has.[4] 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).[2][5] In some cases, the condition goes away and then returns (relapses) after therapy is stopped.[4] The following is a general overview of what to expect with each type:[4][2]

❏» 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.[3]People with PRP have a normal life expectancy.

Last updated: 10/30/2017
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can’t travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources The PRP Alliance includes information on current research for pityriasis rubra pilaris within the PRP Survival Guide.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

❏» Visit the Pityriasis Rubra Pilaris (PRP) group on Facebook.

❏» RareConnect, an online community partnered with EURORDIS, an international patient organization, has a Pityriasis rubra pilaris community

Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start

❏» 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.

In-Depth Information

❏» 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.

Endnotes

(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.