Pityriasis Rubra Pilaris malady
Categories: Genetic diseases, Rare diseases, Skin diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Pityriasis Rubra Pilaris:
Orphanet epidemiological data:52
pityriasis rubra pilaris:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
pityriasis rubra pilaris:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
ICD10: 29 28
Rare skin diseases
OMIM:50 Pityriasis rubra pilaris is an uncommon skin disorder characterized by the appearance of keratotic follicular papules,... (173200) more...
MalaCards based summary: Pityriasis Rubra Pilaris, also known as familial pityriasis rubra pilaris, is related to prp systemic amyloidosis and phosphoribosylpyrophosphate synthetase superactivity, and has symptoms including palmoplantar keratoderma, irregular hyperpigmentation and pruritus. An important gene associated with Pityriasis Rubra Pilaris is CARD14 (Caspase Recruitment Domain Family Member 14). Affiliated tissues include skin, thyroid and liver, and related mouse phenotypes are integument and homeostasis/metabolism.
Genetics Home Reference:24 Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma.
NIH Rare Diseases:46 Pityriasis rubra pilaris (prp) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. 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. last updated: 3/10/2014
UniProtKB/Swiss-Prot:68 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:69 Pityriasis rubra pilaris (also known as \"Devergie\'s disease,\" \"Lichen ruber acuminatus,\" and... more...
Symptoms by clinical synopsis from OMIM:173200
Clinical features from OMIM:173200
Symptoms:52 (show all 14)
HPO human phenotypes related to Pityriasis Rubra Pilaris:(show all 12)
Drugs for Pityriasis Rubra Pilaris (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Pityriasis Rubra Pilaris
MalaCards organs/tissues related to Pityriasis Rubra Pilaris:34
Skin, Thyroid, Liver, Testes, Lung, Colon
Articles related to Pityriasis Rubra Pilaris:(show top 50) (show all 392)
UniProtKB/Swiss-Prot genetic disease variations for Pityriasis Rubra Pilaris:68
Clinvar genetic disease variations for Pityriasis Rubra Pilaris:5
Search GEO for disease gene expression data for Pityriasis Rubra Pilaris.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet