Catalog

Familial cutaneous collagenoma

No MMS code

Link to WHO Definition

Familial cutaneous collagenoma – http://id.who.int/icd/entity/982220551

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).