FMDF
MCID: DSC014
MIFTS: 17

Discoid Fibromas, Familial Multiple (FMDF)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Discoid Fibromas, Familial Multiple

MalaCards integrated aliases for Discoid Fibromas, Familial Multiple:

Name: Discoid Fibromas, Familial Multiple 57
Familial Multiple Trichodiscomas 53 73
Small Benign Fibrovascular Tumor of the Dermal Part of the Hair Disk 53
Hereditary Multiple Trichodiscomas 53
Trichodiscomas, Familial Multiple 57
Fmdf 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or adolescence
lesions occur mainly on the pinnae of the ears or on the face


HPO:

32
discoid fibromas, familial multiple:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 190340
MedGen 42 C1860850
SNOMED-CT via HPO 69 263681008
UMLS 73 C1860850

Summaries for Discoid Fibromas, Familial Multiple

OMIM : 57 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. FMDF is similar to, but histologically and genetically distinct from, Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by fibrofolliculomas as well as renal and pulmonary cysts. (190340)

MalaCards based summary : Discoid Fibromas, Familial Multiple, also known as familial multiple trichodiscomas, is related to birt-hogg-dube syndrome. Affiliated tissues include skin, and related phenotype is abnormality of the hair.

Related Diseases for Discoid Fibromas, Familial Multiple

Diseases related to Discoid Fibromas, Familial Multiple via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 birt-hogg-dube syndrome 11.1

Symptoms & Phenotypes for Discoid Fibromas, Familial Multiple

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
papules, firm, flat or dome-shaped, skin-colored some with a hair at or just outside the periphery and/or telangiectatic surface

Skin Nails Hair Skin Histology:
well-circumscribed elliptical or discoid fibrovascular proliferation
flattened overlying epidermis
coarse hyalinized collagen bundles in a whorled pattern (seen in some lesions)


Clinical features from OMIM:

190340

Human phenotypes related to Discoid Fibromas, Familial Multiple:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the hair 32 HP:0001595

Drugs & Therapeutics for Discoid Fibromas, Familial Multiple

Search Clinical Trials , NIH Clinical Center for Discoid Fibromas, Familial Multiple

Genetic Tests for Discoid Fibromas, Familial Multiple

Anatomical Context for Discoid Fibromas, Familial Multiple

MalaCards organs/tissues related to Discoid Fibromas, Familial Multiple:

41
Skin

Publications for Discoid Fibromas, Familial Multiple

Articles related to Discoid Fibromas, Familial Multiple:

# Title Authors Year
1
Familial Multiple Trichodiscomas: Case Report and Concise Review. ( 29067220 )
2017
2
Familial multiple trichodiscomas. ( 2453999 )
1988
3
Familial multiple trichodiscomas. ( 3771838 )
1986
4
Familial multiple trichodiscomas. A clinicopathologic study. ( 4015134 )
1985

Variations for Discoid Fibromas, Familial Multiple

Expression for Discoid Fibromas, Familial Multiple

Search GEO for disease gene expression data for Discoid Fibromas, Familial Multiple.

Pathways for Discoid Fibromas, Familial Multiple

GO Terms for Discoid Fibromas, Familial Multiple

Sources for Discoid Fibromas, Familial Multiple

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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