Trichoepithelioma arising in a congenital melanocytic nevus of an adult: A diagnostic pitfall

Atzori, Laura; Corbeddu, Marialuisa; Ferreli, Caterina; Pilloni, Luca; Rongioletti, Franco

doi:10.35841/clinical-dermatology.1.1.2-4

Cited by 1 publication

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References 14 publications

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“…The family reported here lives in a coastal city in northeast Brazil, only 4°s outh of the Equator, with strong exposure to sunlight nearly all year (Corrêa 2015). Cumulative ultraviolet exposure plays an important role in photodamage, and it has been extensively related to the etiopathogenesis of multiple cutaneous disorders, including cancer, abnormal pigmentation, and aging (Massoumi 2010;Schuch et al 2017;Atzori et al 2018). Thus, intense exposure to sunlight may have had an effect on the phenotypic expression in this family and may explain the high prevalence of basal cell carcinoma.…”

Section: Discussionmentioning

confidence: 99%

A large family with CYLD cutaneous syndrome: medical genetics at the community level

et al. 2019

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Germline mutations in the cylindromatosis gene (CYLD) are associated with a rare autosomal dominant disease known as CYLD cutaneous syndrome (CCS). Patients present multiple neoplasms originating from skin appendages. Here, we investigated the main clinical and molecular features of a large family with CCS having lived in a small Brazilian town for 6 generations, making its prevalence significantly high. We observed a predominance of the disease among males and a wide phenotypic variation. A high frequency of basal cell carcinomas among affected people was found. The mutation c.2806C>T, p.Arg936* in the CYLD gene was detected in all patients. In this work, a geographical cluster of CCS was found, which raised some community genetics issues related not only to the high prevalence of a rare disease in a limited area but also to the strong social stigma associated with the disease.

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