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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mal de Meleda is caused by mutations in the SLURP1 gene. This gene provides instructions for making a protein that interacts with other proteins, called receptors, and is likely involved in signaling within cells. Studies show that the SLURP-1 protein can attach (bind) to nicotinic acetylcholine receptors (nAChRs) in the skin. Through interaction with these receptors, the SLURP-1 protein is thought to be involved in controlling the growth and division (proliferation), maturation (differentiation), and survival of skin cells.</p><p>Mutations in the SLURP1 gene lead to little or no SLURP-1 protein in the body. It is unclear how a lack of this protein leads to the skin problems that occur in mal de Meleda. Researchers speculate that without SLURP-1, the activity of genes controlled by nAChR signaling is altered, leading to overgrowth of skin cells or survival of cells that normally would have died. The excess of cells can result in skin thickening. It is unclear why skin on the hands and feet is particularly affected.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/mal-de-meleda/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Mal de Meleda?"},{"bodyHtml":"<p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/mal-de-meleda\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"mal-de-meleda","sourceDocuments":[{"name":"Mal de Meleda","reviewed":"2014-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:04.055496+00:00","label":"Causes","pageSha256":"82ba2d9dfa90addd269305bba74f3600f6511e0e6f668d106642e2c1bd937062","sourceUrl":"https://medlineplus.gov/genetics/condition/mal-de-meleda/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/mal-de-meleda"}],"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":"Mal de Meleda"},"schemaVersion":1}