Clinical, Histological and Dermoscopic Findings in Familial Cylindromatosis: a Report of Two Cases

• Main Authors: Tiodorović Danica, Krstić Miljan
• Format: Article
• Language: English
• Published: Sciendo 2015-06-01
• Series: Serbian Journal of Dermatology and Venereology
• Subjects: neoplasms, multiple primary; dermoscopy; skin neoplasms; scalp; neoplastic syndromes, hereditary; case reports; mutation; histological techniques; multiple primarne neoplazme; dermoskopija; tumori kože; skalp; hereditarni neoplastični sindromi; prikazi slučajeva; mutacija; histološke tehnike
• Online Access: https://doi.org/10.1515/sjdv-2015-0008

Cylindromas are benign appendage tumors mainly found on the scalp, but they can occur on any hair-bearing skin. Mutations in the cylindromatosis (CYLD) gene, a tumor suppressor gene located on chromosome 16q12–13, are responsible for multiple cylindromas, which are usually inherited in an autosomal dominant way, as in familial cylindromatosis and Brooke-Spiegler syndrome. The latter is characterized by the presence of multiple cylindromas, multiple trichoepitheliomas and spiradenomas. Based on genetic studies and the identification of heterozygous mutations in the same CYLD gene in familial cylindromatosis, multiple familial trichoepitheliomas, and the Brooke–Spiegler syndrome, it is suggested that these three conditions have the same genetic basis and are phenotypic expressions of the same disease. The diagnosis of each of the tree conditions is based on the dominant tumor type: cylindroma in familiar cyindromas, trichoepithelioma in multiple familial trichoepitheliomas, or a variety of skin appendage tumors including cylindromas, spiradenomas and trichoepitheliomas in Brooke-Spiegler syndrome. The onset of the disease is usually in the early adulthood, but may also occur in childhood or adolescence.