Preferred Label : Familial reactive perforating collagenosis;
ICD-11 definition : Familial reactive perforating collagenosis is a rare autosomal dominant skin disorder
characterized by the development of multiple small umbilicated papules with central
horny plugs, typically on the extensor surfaces of the hands, elbows and knees. The
plugs are formed from trans-epidermal extrusion of abnormal dermal collagen, though
the precise defect is not known. The condition usually starts in early childhood but
persists into adult life. It is usually exacerbated by environmental cold or trauma.;
Origin ID : 563155724;
UMLS CUI : C1857624;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Familial reactive perforating collagenosis is a rare autosomal dominant skin disorder
characterized by the development of multiple small umbilicated papules with central
horny plugs, typically on the extensor surfaces of the hands, elbows and knees. The
plugs are formed from trans-epidermal extrusion of abnormal dermal collagen, though
the precise defect is not known. The condition usually starts in early childhood but
persists into adult life. It is usually exacerbated by environmental cold or trauma.
