Método simple y efectivo para el tratamiento de los cilindromas en el síndrome de Brooke-Spiegler

Lucas-Truyols, S.; Lloret-Ruiz, C.; Millán-Parrilla, Fernando; Gimeno-Carpio, E.

doi:10.1016/j.ad.2016.11.011

Cited by 4 publications

(1 citation statement)

References 9 publications

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“…The FC and MFT subtypes are associated with CYLD gene mutations on chromosome 16q12-913 [ 2 ]. This tumor suppressor gene impedes the Tumor Necrosis Factor-alpha pathway by reducing the expression of nuclear factor kappa B (NF-kB), a transcription factor with a key role in the antiapoptotic process [ 2 , 3 ]. BSS, FC, and MFT variants have simultaneously presented in patients, suggesting these seemingly distinct subtypes are actually the end result of phenotypic variability within the same disease.…”

Section: Introductionmentioning

confidence: 99%

Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome

Patel

Naber

Cusick

et al. 2021

Case Reports in Dermatological Medicine

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Brooke–Spiegler Syndrome (BSS) is a rare autosomal dominant familial disorder resulting in dermatologic neoplasms of copious nodular appendages. Here, we report a case of Familial Cylindromatosis (FC), a subtype of BSS, in a patient with the largest cylindroma of 7.4 × 5.6 × 3.8 cm on the scalp. The patient had undiagnosed cylindromas growing for 36 years at presentation; however, he did not seek out healthcare evaluation. Excision and pathologic investigation of three large masses from different body sites determined a shared phenotype of cylindromas. Subsequent evaluation of the patient's son separately, after primary patient excision, confirmed cylindroma development as well. The pathologic evidence of cylindromas in the patient with a new history of family incidence confirmed the diagnosis of the FC variant of BSS.

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Section: Introductionmentioning

confidence: 99%

Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome

Patel

Naber

Cusick

et al. 2021

Case Reports in Dermatological Medicine

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Síndrome de Brooke-Spiegler asociado a neoplasias malignas

Herrera¹,

Novoa²,

Delgado³

et al. 2022

Piel

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Bleomycin Electrochemotherapy of Dermal Cylindroma as an Alternative Treatment in a Rare Adnexal Neoplasm: A Case Report and Literature Review

Bonadies,

Iorio,

Silipo

et al. 2023

Biomedicines

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Background: Brooke–Spiegler syndrome is a rare autosomal dominant disorder characterized by the continuous development of multiple benign skin appendage tumors. It is treated usually by repeated standard surgery. Here, we present a case study where electrochemotherapy (ECT) with bleomycin was used as an effective alternative approach in treating advanced dermal cylindromatosis of the head and neck in a patient with Brooke–Spiegler syndrome. Patients and methods: A 45-year-old woman presented with multiple recurrent dermal cylindroma lesions on her scalp. Previous treatment consisted of several surgical excisions that resulted in psychological deterioration due to the formation of numerous scars and extensive alopecic areas. ECT was offered to provide tumor removal and disease control and to improve the patient’s quality of life. Results: The treatment was well tolerated, and a significant reduction in neoplastic tissue was achieved. Importantly, scalp skin condition significantly improved, regaining a fair follicular density on the margins. Conclusion: This report suggests the feasibility of bleomycin ECT as a less invasive alternative option for controlling multiple scalp cylindroma lesions with cosmetically acceptable results, and improving quality of life.

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Método simple y efectivo para el tratamiento de los cilindromas en el síndrome de Brooke-Spiegler

Cited by 4 publications

References 9 publications

Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome

Brooke–Spiegler Syndrome: Familial Cylindromatosis, a Rare Variant of a Rare Familial Syndrome

Síndrome de Brooke-Spiegler asociado a neoplasias malignas

Bleomycin Electrochemotherapy of Dermal Cylindroma as an Alternative Treatment in a Rare Adnexal Neoplasm: A Case Report and Literature Review

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