Observations on Four Cases of Brooke–Spiegler Syndrome

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.

Síndrome de Brooke-Spiegler: una infrecuente enfermedad a tener en cuenta en la práctica dermatológica.

“…Debido a la rareza de esta condición, las modalidades de tratamiento varían, no existen terapias curativas para las lesiones cutáneas, se han utilizado intervenciones quirúrgicas, como electrocirugía, criocirugía, cirugía con láser y radiocirugía. Idealmente, deben intentarse temprano para evitar cambios desfigurantes como el tumor del turbante 8,13,14 . Las terapias ablativas más comunes consisten en la escisión clásica, la dermoabrasión, los láseres de CO o de erbio-YAG y crioterapia entre otras.…”

“…Las terapias ablativas más comunes consisten en la escisión clásica, la dermoabrasión, los láseres de CO o de erbio-YAG y crioterapia entre otras. Además del enfoque quirúrgico del tratamiento, se han probado con éxito variable medicamentos que incluyen aspirina, adalimumab, imiquimod tópico y vismodegib 8,13,14 . En el caso de la paciente se trataron las lesiones más molestas como áreas perioculares para mejorar el aspecto estético facial con cirugía y reconstrucciones quirúrgicas por parte de cirugía plástica.…”

Gynaecological cylindroma in association with CYLD gene mutation

“…Brooke-Spiegler syndrome (BSS), otherwise known as CYLD cutaneous syndrome, is an autosomal dominant disorder characterized by the presence of multiple benign skin tumours which develop from adnexal structures of the skin including spiradenomas, cylindromas and trichoepitheliomas. BSS shows variable penetrance between 60 and 100% and is caused by germline mutations on the CYLD gene [ 1 ]. The CYLD gene is a tumour suppressor gene, located on chromosome 16q12-13, which encodes an enzyme that interacts with multiple substrates of the nuclear factor kappa B (NF-kB) signalling pathway and downregulates its activity by removal of Lys-63-linked ubiquitin chain from TRAF2, TRAF6 and IKBKG.…”