Pityriasis Rubra Pilaris (PRP)

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Disease Ontology 12 DOID:9212 OMIM® 57 173200 KEGG 36 H01659 ICD9CM 34 696.4 MeSH 44 D010916 NCIt 50 C85014 SNOMED-CT 67 3755001 ICD10 32 L44.0

MESH via Orphanet 45 D010916 ICD10 via Orphanet 33 L44.0 UMLS via Orphanet 72 C0032027 Orphanet 58 ORPHA2897 MedGen 41 C0032027 SNOMED-CT via HPO 68 10165000 103605005 108369006 127559009 19940005 200766001 200948000 25694009 263681008 271760008 279333002 281104002 285305004 363346000 396349005 396350005 399992009 400005007 402237006 418290006 418363000 424492005 43116000 443871003 47002008 62909004 65068000 706885006 708474007 more UMLS 71 C0032027

KEGG : ³⁶ Pityriasis rubra pilaris (PRP) is a spectrum of rare chronic inflammatory disorders with papulosquamous eruptions of unknown cause. The prototypical clinical characteristics of PRP are follicular hyperkeratotic papules on an erythematous base that can eventually coalesce to large red plaques. Its classification into five subgroups is based on age at onset, clinical course, morphologic features, and prognosis. More than 50% of patients are best classified as type I with adult-onset PRP. It is comprised of widespread, follicular papules and plaques and tends to clear spontaneously in 80% of patients in one to three years. Type II, which is the atypical adult subtype, tends to be more chronic and presents with areas of alopecia, eczematous patches, and a palmoplantar keratoderma. The classic juvenile type III is observed in only 10% of patients. It is similar clinically to type I but occurs in children and tends to remit in one year. Type IV, which is the circumscribed, juvenile subtype, presents with sharply-demarcated areas of follicular hyperkeratosis and erythema of the elbows and knees. An estimated 5% of children with PRP develop an atypical form classified as juvenile type V. Most familial cases that are published belong to this group. Recently, the designation of a new category of PRP (type VI) has been proposed that is characterized by the presence of HIV infection with different clinical features and a poorer prognosis. Treatment of PRP can be difficult, and no standardized approach has been established, although systemic retinoids are considered first-line therapy. Cyclosporin, methotrexate, and azathioprine are alternatives.

MalaCards based summary : Pityriasis Rubra Pilaris, also known as prp, is related to familial pityriasis rubra pilaris and pustular psoriasis. An important gene associated with Pityriasis Rubra Pilaris is CARD14 (Caspase Recruitment Domain Family Member 14), and among its related pathways/superpathways are NF-KappaB Family Pathway and T cell receptor signaling pathway. The drugs Dermatologic Agents and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and thyroid, and related phenotypes are palmoplantar keratoderma and irregular hyperpigmentation

Disease Ontology : ¹² A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma.

GARD : ²⁰ Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. 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. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP). 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.

OMIM® : ⁵⁷ Pityriasis rubra pilaris is an uncommon skin disorder characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic, although up to 6.5% of PRP-affected individuals report a positive family history. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression: the disorder is usually present at birth or appears during the first years of life and is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema, with only a modest response to treatment (summary by Fuchs-Telem et al., 2012). (173200) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ Pityriasis rubra pilaris: A rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema.

Wikipedia : ⁷⁴ Pityriasis rubra pilaris refers to a group of chronic disorders characterized by reddish orange, scaling... more...

Clinical features from OMIM®:

173200 (Updated 05-Mar-2021)

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Search GEO for disease gene expression data for Pityriasis Rubra Pilaris.