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dystrophy","onset_id":null,"reference":"PMID:21848462","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis\">Generalized pustular psoriasis</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in several genes, including IL36RN and CARD14, increase the risk of developing GPP. These two genes provide instructions for making proteins that play roles in regulating inflammation, particularly in the skin. The IL-36Ra protein, produced from the IL36RN gene, blocks the activity of specific proteins that trigger signaling pathways to promote skin inflammation. IL36RN gene mutations involved in GPP reduce the amount of IL-36Ra protein in the skin. Without control by IL-36Ra, signaling pathways that promote inflammation are overly active.</p><p>Conversely, the CARD14 protein normally turns on inflammation signaling. The CARD14 gene mutations associated with GPP increase the activity of the CARD14 protein, leading to uncontrolled inflammation signaling in the skin. Enhancement of these signaling pathways results in abnormal inflammatory reactions, which contribute to the skin problems and systemic inflammation characteristic of GPP.</p><p>IL36RN gene mutations are most often associated with GPP alone and are only rarely found in individuals who also have PV. Mutations in this gene appear to be the most common genetic risk factor for GPP alone. CARD14 gene mutations are more frequently found in individuals with both GPP and PV, although changes in this gene have also been found in individuals with GPP alone.</p><p>Many people with GPP do not have a mutation in the IL36RN or CARD14 gene. Mutations in other genes, some of which have not been identified, may also be associated with the condition. Having a gene mutation in one of the associated genes does not mean an individual will have GPP. Researchers suspect that environmental or other genetic factors help determine whether an individual will develop the condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Generalized pustular psoriasis?"},{"bodyHtml":"<p>While many affected individuals have features only of GPP (called GPP alone), some develop features of another skin condition called psoriasis vulgaris (PV), either before or after GPP appears. PV, the most common form of psoriasis, is characterized by red, scaly patches of skin (plaques) on parts of the body.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"generalized-pustular-psoriasis","sourceDocuments":[{"name":"Generalized pustular psoriasis","reviewed":"2017-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:43.353568+00:00","label":"Causes","pageSha256":"cfd908db18600626121e51717edcf44d09267ced7b78c9c4ca3acbea54060588","sourceUrl":"https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis"}],"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":"Generalized pustular psoriasis"},"schemaVersion":1}