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CYLD cutaneous syndrome is the recently designated term for three rare inherited cutaneous adnexal tumor syndromes: multiple familial trichoepithelioma , Brooke–Spiegler syndrome , and familial cylindromatosis. Cutaneous adnexal tumors are a large group of skin tumors that consist of tissues that have differentiated towards one of the four primary adnexal structures found in normal skin: hair follicles, sebaceous sweat glands, apocrine sweat glands, and eccrine sweat glands. CCS tumors are hair follicle tumors.
Individuals with the MFT1, BSS, and FC forms of CCS carry a germline mutation in one of their two CYLD genes. These individuals have skin tumors that tend to cluster into MFT1, BSS, and/or FC types that differ form each other in their locations, organizations, and microscopic appearances. Nonetheless, members of a single family with CCS can manifest either a FC-, MFT1- or BSS-type pattern. Furthermore, these different patterns have little or no impact on the prognoses or course of individuals with CCS. The term “CYLD cutaneous syndrome” as applied to individuals with MFT1, BSS, or FC hair follicular tumors and carrying a hereditary CYLD mutation was first proposed by Rajan et al. in 2009.
Individuals with CCS generally develop increasing numbers of benign skin tumors beginning in their youth and continuing throughout most of their lives. In uncommon cases, they develop malignant tumors many of which appear to arise from their benign tumors. Tumors that are unacceptably symptomatic, highly disfiguring, or malignant are treated by surgical excision methods plus, in cases of malignancy or other medial considerations, radiation therapy. Radiation therapy alone may be used in cases of surgically inaccessible tumors. All individuals with CCS should have routine yearly or more frequent follow-up examinations to check for the development of malignant tumors. Individuals with CCS along with their close family members should be offered access to in depth genetic counselling. Research is needed to find the best treatments, including drugs, for these tumors.