Pityriasis Rubra Pilaris

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OMIM 57 173200 Disease Ontology 12 DOID:9212 ICD10 33 L44.0 ICD9CM 35 696.4 MeSH 44 D010916 NCIt 50 C85014 SNOMED-CT 68 3755001 Orphanet 59 ORPHA2897

MESH via Orphanet 45 D010916 UMLS via Orphanet 74 C0032027 ICD10 via Orphanet 34 L44.0 MedGen 42 C0032027 KEGG 37 H01659 SNOMED-CT via HPO 69 263681008 127559009 62909004 199879009 95320005 281104002 43116000 706885006 279333002 418290006 418363000 424492005 200948000 396349005 396350005 399992009 400005007 108369006 363346000 10165000 19940005 402237006 25694009 443871003 103605005 271760008 285305004 47002008 more UMLS 73 C0032027

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Pityriasis Rubra Pilaris, also known as prp, is related to psoriasis and familial pityriasis rubra pilaris. An important gene associated with Pityriasis Rubra Pilaris is CARD14 (Caspase Recruitment Domain Family Member 14). The drugs Dermatologic Agents and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and liver, and related phenotypes are ichthyosis and palmoplantar keratoderma

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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Pityriasis rubra pilaris (also known as \"Devergie\'s disease,\" \"Lichen ruber acuminatus,\" and... more...

Clinical features from OMIM:

173200

Search NIH Clinical Center for Pityriasis Rubra Pilaris

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