DISCOID FIBROMAS, FAMILIAL MULTIPLE

General Information (adopted from Orphanet):

Synonyms, Signs: TRICHODISCOMAS, FAMILIAL MULTIPLE
FMDF
Number of Symptoms 6
OrphanetNr:
OMIM Id: 190340
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001595) Abnormality of the hair 89 / 7739
2
(OMIM) Papules, firm, flat or dome-shaped, skin-colored some with a hair at or just outside the periphery and/or telangiectatic surface 1 / 7739
3
(OMIM) Flattened overlying epidermis 1 / 7739
4
(OMIM) Well-circumscribed elliptical or discoid fibrovascular proliferation 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Coarse hyalinized collagen bundles in a whorled pattern (seen in some lesions) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Starink et al. (1985) described a family in which 7 persons in 3 generations had multiple trichodiscomas with onset of the lesions early in life. Starink et al. (1985) considered the disorder to be distinct from autosomal dominant ...
Molecular genetics OMIM - Exclusion Studies

Starink et al. (2012) excluded pathogenic mutations in the FLCN gene (607273) in 9 families with familial multiple discoid fibromas. In addition, linkage to the FLCN gene was excluded in 2 of the ...