A 59-year-old woman presents with multiple asymptomatic lesions on her face that have been increasing in size and number for at least 2 decades. She reports 2 past basal cell carcinomas, both located on her face. She states that several other family members have similar-appearing lesions. On examination, multiple flesh-colored papules and nodules are noted on her face; no similar lesions are present elsewhere.
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Trichoepithelioma is a benign adnexal neoplasm derived from basal cells residing within hair follicles. Lesions are found most commonly on the face and scalp and they may be solitary or multiple. Multiple lesions are often of cosmetic concern.
Multiple familial trichoepithelioma (MFT) syndrome is a rare genodermatosis with an autosomal-dominant pattern of inheritance with incomplete penetrance. Both sexes may be affected, although there is a female predominance.1 The most common subset of MFT is Brooke-Spiegler syndrome. In addition to trichoepitheliomas, Brooke-Spiegler syndrome is associated with other cutaneous neoplasms such as cylindromas and basal cell carcinomas.2-4 MFT arise from heterozygous mutations in the immunosuppressive CYLD gene,5 and genetic testing can confirm the diagnosis and identify younger family members at risk for the disease.6
Therapy of individual lesions is accomplished by excisional surgery. Multiple lesions may respond to dermabrasion or laser ablation. Periodic cutaneous examination is prudent given the association of MFT with malignant skin tumors.
Stephen Schleicher, MD, is an associate professor of medicine at the Commonwealth Medical College in Scranton, Pennsylvania, and an adjunct assistant professor of dermatology at the Perelman School of Medicine of the University of Pennsylvania in Philadelphia. He practices dermatology in Hazleton, PA.
- Subba Rao D. Familial multiple trichoepitheliomas. Indian J Dermatol Venereol Leprol. 2000;66(4):207-208.
- Burrows NP, Jones RR, Smith NP. The clinicopathological features of familial cylindromas and trichoepitheliomas (Brooke-Spiegler syndrome): a report of two families. Clin Exp Dermatol. 1992;17(5):332-336.
- Delfino M, D’Anna F, Ianniello S, Donofrio V. Multiple hereditary trichoepithelioma and cylindroma (Brooke-Spiegler syndrome). Dermatologica. 1991;183(2):150-153.
- Kazakov DV, Soukup R, Mukensnabl P, Boudova L, Michal M. Brooke-Spiegler syndrome: report of a case with combined lesions containing cylindromatous, spiradenomatous, trichoblastomatous, and sebaceous differentiation. Am J Dermatopathol. 2005;27(1):27-33.
- Young AL, Kellermayer R, Szigeti R, Tészás A, Azmi S, Celebi JT. CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. Clin Genet. 2006;70(3):246-249.
- Dubois A, Wilson V, Bourn D, Rajan N. CYLD genetic testing tor Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepitheliomas. PLoS Curr. 2015;7.