Familial multiple trichoepitheliomata

Common Name(s)

Familial multiple trichoepitheliomata

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 ({13: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 ({14:Lee et al., 2005}; {4:Bowen et al., 2005}; {18:Young et al., 2006}; {16:Saggar et al., 2008}). {3:Blake and Toro (2009)} provided a detailed review of the spectrum of disorders associated with CYLD mutations.
 

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Condition Specific Organizations

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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