Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome.
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.
Department of Dermatology, University Hospital Puerta del Mar, Andalusian Health Service, Cádiz, Spain.
Cintia Arjona
CA
Aguilera
Department of Immunology, University Hospital Puerta del Mar, Andalusian Health Service, Cádiz, Spain.
Raquel
R
De la Varga Martínez
Department of Dermatology, University Hospital Puerta del Mar, Andalusian Health Service, Cádiz, Spain.
Lidia Ossorio
LO
García
Department of Dermatology, University Hospital Puerta del Mar, Andalusian Health Service, Cádiz, Spain.
David
D
Jiménez-Gallo
Department of Dermatology, University Hospital Puerta del Mar, Andalusian Health Service, Cádiz, Spain.
Cristina Albarrán
CA
Planelles
Department of Dermatology, University Hospital Puerta del Mar, Andalusian Health Service, Cádiz, Spain.
Mario Linares
ML
Barrios
Brooke–Spiegler syndrome; cylindromatosis protein; familial cylindromatosis; genodermatosis; trichoepithelioma multiple familial
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