Heterozygous cylindromatosis gene mutation c.1628_1629delCT in a family with brook-spiegler syndrome

Abstract

Brooke–Spiegler Syndrome (BSS) is a rare genodermatosis characterized by the progressive formation of adnexal skin tumors in the scalp and face, mainly trichoepitheliomas, cylindromas, and spiradenomas. It has also been associated with salivary glands neoplasms. It is due to mutations in the tumor suppressor gene cylindromatosis (CYLD gene) localized on chromosome 16q12−q13. Around 93 mutations have been described. The study of CYLD gene in patients and their relatives is of vital importance to establish the molecular diagnosis and offer appropriate genetic counseling. There is a low risk of malignancy and patients require long-term follow-up. A case of BSS in a family is described. The existence of the genetic mutation at the CYLD gene c. 1628_1629delCT in three of the women affected was demonstrated. This mutation has only been described once in a previous study.

Possibilities of Photodynamic Therapy in the Treatment of Multiple Cylindroma of the Scalp: The Clinical Case Study

“…The main treatment is surgical removal and high-dose radiation [24][25][26][27]. At the same time, dermal cylindroma has a high recurrence rate due to the technical difficulties of surgical and/or radiation treatment.…”

Spiradenocarcinoma: A Comprehensive Data Review

“…[13][14][15] The tumor suppressor gene CYLD, located on chromosome 16q12-q13 has been identified by genetic studies to encode for hereditary transmission of multiple familiar cylindromas as well as its associated tumors arising from skin appendices and the parotid gland. [16][17][18] One hundred twenty cases of SC have been published up to December 2015, most of them as case reports. Because of its rarity the optimal treatment for SC is unclear.…”