Discoid fibromas, familial multiple

Preferred Label : Discoid fibromas, familial multiple;

Symbol : FMDF;

CISMeF acronym : FMDF;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Trichodiscomas, familial multiple;

Description : Familial multiple discoid fibromas (FMDF) is an autosomal dominant dermatologic condition characterized by the appearance of multiple skin-colored, firm, flat or dome-shaped papules on the pinnae and the central area of the face in childhood or adolescence. Most lesions show a hair at or just outside the periphery, and many have a telangiectatic surface (summary by Starink et al., 2012). Trichodiscoma, as this lesion was first described by Pinkus et al. (1974), is a small benign fibrovascular tumor of the dermal part of the hair disc. The hair disc is a richly vascularized dermal pad in close association with a hair. It is supplied by a thick myelinated nerve and is considered to be a slow-adapting mechanoreceptor. Trichodiscomas are small, flat or dome-shaped, skin-colored, firm papules with a telangiectatic surface. Many of the lesions show a hair at the periphery or just outside it. Starink et al. (2012) renamed the lesion 'discoid fibroma' as a clarification of the histologic findings.;

Inheritance : Autosomal dominant;

Prefixed ID : %190340;

Details

Origin ID

190340;

UMLS CUI

C1860850;

Currated CISMeF NLP mapping
- Familial multiple discoid fibroma (disorder) [SNOMED CT concept]
- Familial multiple discoid fibromas [ORDO Disease]
- Familial multiple trichodiscomas [MeSH concept]
- familial multiple trichodiscomas [MeSH Supplementary Concept]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
ORDO concept(s)
- Familial multiple discoid fibromas [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial multiple discoid fibroma (disorder) [SNOMED CT concept]
- Familial multiple trichodiscomas [MeSH concept]
- familial multiple trichodiscomas [MeSH Supplementary Concept]

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