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 58
Familial Multiple Trichodiscomas 54 74
Small Benign Fibrovascular Tumor of the Dermal Part of the Hair Disk 54
Hereditary Multiple Trichodiscomas 54
Trichodiscomas, Familial Multiple 58
Fmdf 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
discoid fibromas, familial multiple:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 190340
MedGen 43 C1860850
SNOMED-CT via HPO 70 263681008
UMLS 74 C1860850

Summaries for Discoid Fibromas, Familial Multiple

OMIM : 58 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

Human phenotypes related to Discoid Fibromas, Familial Multiple:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the hair 33 HP:0001595

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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