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morphology","onset_id":null,"reference":"ORPHA:2897","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"df4140797d2c0a8a8a43d0460effe0f8ac65376c9ac945b1089e7ba802f1608b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:173200","disease_name":"Pityriasis rubra pilaris","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000656","is_excluded":false,"label":"Ectropion","onset_id":null,"reference":"OMIM:173200","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fda6c43056dd84faf090e2a3353b0b3938140d90db8955c39329f904008f774e","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:173200","disease_name":"Pityriasis rubra pilaris","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001036","is_excluded":false,"label":"Parakeratosis","onset_id":null,"reference":"PMID:22703878","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/familial-pityriasis-rubra-pilaris\">Familial pityriasis rubra pilaris</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>In most cases of pityriasis rubra pilaris, the cause of the condition is unknown. However, mutations in the CARD14 gene have been found to cause the familial form of the disorder in a few affected families. The CARD14 gene provides instructions for making a protein that turns on (activates) a group of interacting proteins known as nuclear factor-kappa-B (NF-κB). NF-κB regulates the activity of multiple genes, including genes that control the body&#x27;s immune responses and inflammatory reactions. It also protects cells from certain signals that would otherwise cause them to self-destruct (undergo apoptosis).</p><p>The CARD14 protein is found in many of the body&#x27;s tissues, but it is particularly abundant in the skin. NF-κB signaling appears to play an important role in regulating inflammation in the skin. Mutations in the CARD14 gene lead to overactivation of NF-κB signaling, which triggers an abnormal inflammatory response. Researchers are working to determine how these changes lead to the specific features of familial pityriasis rubra pilaris.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/familial-pityriasis-rubra-pilaris/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Familial pityriasis rubra pilaris?"},{"bodyHtml":"<p>Researchers have distinguished six types of pityriasis rubra pilaris based on the features of the disorder and the age at which signs and symptoms appear. The familial form is usually considered part of type V, which is also known as the atypical juvenile type. People with familial pityriasis rubra pilaris typically have skin abnormalities from birth or early childhood, and these skin problems persist throughout life.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/familial-pityriasis-rubra-pilaris\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"familial-pityriasis-rubra-pilaris","sourceDocuments":[{"name":"Familial pityriasis rubra pilaris","reviewed":"2013-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:28.256135+00:00","label":"Causes","pageSha256":"2cdf57c4fa0712bf90b890f7c401571034860248a3f412c6c8558d9d9ddcba82","sourceUrl":"https://medlineplus.gov/genetics/condition/familial-pityriasis-rubra-pilaris/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/familial-pityriasis-rubra-pilaris"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Familial pityriasis rubra pilaris"},"schemaVersion":1}