" /> Familial cutaneous collagenoma - CISMeF





Preferred Label : Familial cutaneous collagenoma;

ICD-11 definition : Familial cutaneous collagenoma (MIM 115250) is a rare autosomal dominant disorder in which multiple asymptomatic hamartomatous dermal collagenous nodules are found, typically with onset after puberty and symmetrically distributed over the upper trunk and mid back. It has been linked to mutations in the LEMD3 gene and is phenotypically similar to Buschke-Ollendorff syndrome though without evidence of bone changes (osteopoikilosis).;

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Familial cutaneous collagenoma (MIM 115250) is a rare autosomal dominant disorder in which multiple asymptomatic hamartomatous dermal collagenous nodules are found, typically with onset after puberty and symmetrically distributed over the upper trunk and mid back. It has been linked to mutations in the LEMD3 gene and is phenotypically similar to Buschke-Ollendorff syndrome though without evidence of bone changes (osteopoikilosis).

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22/05/2025


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