Efficacy of Surgical Treatment for Brooke-Spiegler Syndrome with Facial Esthetic Deformity

Abstract

　　Brooke-Spiegler syndrome（BSS）is a rare hereditary autosomal dominant disorder characterized by the development of multiple cylindromas, trichoepitheliomas, and, occasionally, spiradenomas. This report describes a 66-year-old woman presenting with multiple skin tumors, mainly involving the face and head, which progressively increased in size and number and resulted in significant esthetic deformity. Biopsy of the facial and head tumors led to histopathological diagnoses of cylindroma, trichoepithelioma, and spiradenoma. Mutations in the CYLD gene on chromosomes 16q12-q13 are known as the molecular basis of BSS. These CYLD gene mutations were detected in peripheral blood samples from both the patient and her son. A favorable esthetic outcome was achieved with surgical treatment. The surgical wound healed without hypertrophic scarring or keloid formation, and the scarring was inconspicuous. Moreover, no signs of recurrence were observed. This report suggests the usefulness of surgical treatment for this syndrome, for which no recommended treatment has been established.