Nonfamilial Multiple Trichoepithelioma

An unusual case of multiple grouped non-familial trichoepitheliomas

“…The tumor may arise sporadically or in the setting of an underlying genetic disorder, such as multiple familial trichoepithelioma (MFT). Multiple familial trichoepithelioma is an autosomal dominant inherited genodermatosis associated with mutations on chromosome 9p21 or cylindromatosis tumor suppressor gene (CYLD), located on chromosome 16q12-113 [2]. In our case, there was no family history of trichoepitheliomas.…”

“…Prevalence is unknown but the tumors typically appear in early childhood or puberty. Lesions may increase in size and number but remain asymptomatic most of the time [2]. Multiple trichoepitheliomas typically present as skincolored-to-pink, firm, papulonodules, which are mostly on the face and occasionally on the scalp, neck, or upper trunk [3].…”

Multiple Trichoepithelioma

“…A case of MTE without family history has been reported in a 9 year old child who presented with asymptomatic papules since the age of 5 months (13). A case of multiple non-familial trichoepithelioma has been reported in a 30y/F presented with multiple grouped skin coloured papules and nodules on her face including ear leading to facial disfigurement and hearing loss (14). A 6 year old girl child presented with 3 years history of hemifacial plaque of confluent nevoid trichoepithelioma with no family history (15).…”

Síndrome de Brooke-Spiegler asociado a carcinoma basocelular: reporte de caso

“…El síndrome de Brooke-Spiegler (SBS) es una entidad autosómica dominante que ocurre por mutaciones del gen CYLD, el cual funciona como un gen supresor de tumores, y cuyo locus codifica una ubiquitina hidrolasa [1][2][3]. Clásicamente, el SBS se caracteriza por una mayor predisposición a desarrollar neoplasias anexiales cutáneas de cuero cabelludo, cara y cuello, y con menor frecuencia afecta tronco y extremidades [1,2,[4][5][6]. Estas lesiones se desarrollan usualmente en mujeres de mediana edad y ancianas [5].…”