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Familial multiple trichoepitheliomata(EAC)

MedGen UID:
220890
Concept ID:
C1275122
Neoplastic Process
Synonyms: Brooke-Fordyce trichoepitheliomas; Epithelioma adenoides cysticum of Brooke; Epithelioma hereditary multiple benign cystic; Multiple Familial Trichoepithelioma 1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Familial multiple trichoepitheliomata (403825008); Epithelioma adenoides cysticum of Brooke (403825008)
 
Gene (location): CYLD (16q12.1)
OMIM®: 601606
Orphanet: ORPHA867

Definition

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 or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma (Johnson and Bennett, 1993). Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations. [from OMIM]

Additional description

From GHR
Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepitheliomas, which arise from hair follicles. Trichoepitheliomas are generally noncancerous (benign) but occasionally develop into a type of skin cancer called basal cell carcinoma.Individuals with multiple familial trichoepithelioma occasionally also develop other types of tumors, including growths called spiradenomas and cylindromas. Spiradenomas develop in sweat glands. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands.People with multiple familial trichoepithelioma typically begin developing tumors during childhood or adolescence. The tumors mostly appear on the face, especially in the folds in the skin between the nose and lips (nasolabial folds, sometimes called smile lines), but may also occur on the neck, scalp, or trunk. They may grow larger and increase in number over time.In severe cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The growths can be disfiguring and may contribute to depression or other psychological problems. For reasons that are unclear, females with multiple familial trichoepithelioma are often more severely affected than males.  https://ghr.nlm.nih.gov/condition/multiple-familial-trichoepithelioma

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial multiple trichoepitheliomata
Follow this link to review classifications for Familial multiple trichoepitheliomata in Orphanet.

Recent clinical studies

Clinical prediction guides

Eeles RA, Warren W, Knee G, Bartek J, Averill D, Stratton MR, Blake PR, Tait DM, Lane DP, Easton DF
Oncogene 1993 May;8(5):1269-76. PMID: 8479749

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