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syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012393","is_excluded":false,"label":"Allergy","onset_id":null,"reference":"ORPHA:263534","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2\">Peeling skin syndrome 2</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Peeling skin syndrome 2 is caused by variants (also called mutations) in the TGM5 gene. This gene provides instructions for making an enzyme called transglutaminase 5, which is part of the outer layer of skin (the epidermis). Transglutaminase 5 plays a critical role in the formation of a structure called the cornified cell envelope, which surrounds epidermal cells and helps the skin form a protective barrier between the body and its environment.</p><p>TGM5 gene variants reduce the activity of transglutaminase 5 or prevent cells from making any of this enzyme. A shortage of transglutaminase 5 weakens the cornified cell envelope, which allows the outermost cells of the epidermis to separate easily from the underlying skin and peel off. The peeling may be most noticeable on the hands and feet because those areas are more often exposed to moisture and friction.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Peeling skin syndrome 2?"},{"bodyHtml":"<p>Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Peeling skin syndrome 2 is not associated with any other health problems.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"peeling-skin-syndrome-2","sourceDocuments":[{"name":"Peeling skin syndrome 2","reviewed":"2023-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:06.974052+00:00","label":"Causes","pageSha256":"81d41cf1739768d5172951de546bddbe450efd45ddf21366d45c396fe0a24c44","sourceUrl":"https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2"}],"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":"Peeling skin syndrome 2"},"schemaVersion":1}