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).;
Origin ID : 982220551;
Currated CISMeF NLP mapping
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).
