TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1

General Information (adopted from Orphanet):

Synonyms, Signs: EPITHELIOMA, HEREDITARY MULTIPLE BENIGN CYSTIC
EPITHELIOMA ADENOIDES CYSTICUM OF BROOKE
BROOKE-FORDYCE TRICHOEPITHELIOMAS
EAC
MFT1
Number of Symptoms 4
OrphanetNr:
OMIM Id: 601606
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(OMIM) Tumors show hair follicle differentiation 1 / 7739
2
(OMIM) Trichoepitheliomas may rarely show malignant transformation to basal cell carcinoma 1 / 7739
3
(OMIM) Dermal aggregates of basaloid cells 1 / 7739
4
(OMIM) Trichoepitheliomas, multiple (usually occur in the nasolabial folds, nose, or face) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Multiple familial trichoepithelioma, also called epithelioma adenoides cysticum (EAC), is an autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to ...
Clinical Description OMIM Brooke (1892) and Fordyce (1892) described a familial syndrome characterized by tumors of skin appendages, 'epithelioma adenoides cysticum,' also known as trichoepitheliomas (Lee et al., 2005).

Fliegelman and Kruse (1948) described 'multiple benign cystic epithelioma' in ...

Molecular genetics OMIM In affected members of a Turkish family with multiple familial trichoepithelioma, Hu et al. (2003) identified a heterozygous mutation in the CYLD gene (605018.0007). Hu et al. (2003) noted that the phenotype of most of the affected individuals ...