Abstract
Background: Brooke–Spiegler Syndrome is a rare genetic autosomal dominant disorder with variable penetrance. Its main feature consists of the development of multiple adnexal tumors that originate from the follicular-sebaceous-apocrine unit, most commonly: cylindromas, trichoepitheliomas and spiradenomas. Case presentation: We present four cases of Brooke–Spiegler Syndrome found in our clinic, as well as their clinicopathological traits and the surgical techniques used in their management. The familial history of three of the presented cases supports the genetic component of the disease. Cylindromas, spiradenomas and trichoepitheliomas coexisted in one of the cases presented. The therapeutic options used were electrocautery, CO2 laser, as well as tumor debulking followed by closure with metal staples. Discussion: The treatment remains a challenge and must be individualized based on the type, location and number of the lesions. Conservative methods such as CO2 laser and tumor debulking accompanied by closure with metal staples remain a viable option taking into account the large number of lesions. As patients usually develop multiple neoplasms throughout their lifetime, repeated procedures may be needed. Conclusion: Considering the few numbers of Brooke–Spiegler syndrome cases in the current literature, the authors report these patients in order to increase awareness and to help establish the most appropriate approach in managing the disease.
Highlights
Brooke–Spiegler syndrome is a rare entity characterized by the association of multiple trichoepitheliomas, cylindromas, and spiradenomas
Constitutes a phenotypic variant of the disease which is manifested by the development of numerous trichoepitheliomas in the absence of accompanying cylindromas, spiradenomas or cylindrospiradenomas [1,2,3]
Brooke–Spiegler Syndrome represents an autosomal dominant genodermatosis with variable penetrance which increases with age (60–100%)
Summary
Brooke–Spiegler syndrome is a rare entity characterized by the association of multiple trichoepitheliomas, cylindromas, and spiradenomas. The form of Brooke–Spiegler syndrome that is characterized only by the presence of cylindromas, known as familial cylindromatosis, represents another rare phenotypic variant [4]. People with Brooke–Spiegler syndrome are born with a mutation in one of the two copies of the CYLD gene in each cell. Enough protein is usually produced from the other normal copy of the gene in order to regulate cell growth effectively [7]. Variability of phenotypic expression between andand within with the to the severity of the disease, the possibility of malignant transformation the families development of same germline lesions. Will describe the cases of four patients diagnosed with Brooke–Spiegler Syndrome in our clinic
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