Differential diagnosis of Brooke–Spiegler syndrome in a young woman with multiple trichoepitheliomas
- 作者: Gaydina T.1,2, Dvornikov A.1, Skripkina P.1, Patsap O.2, Buianova A.1
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隶属关系:
- The Russian National Research Medical University named after N.I. Pirogov
- Federal Center of Brain Research and Neurotechnologies
- 期: 卷 25, 编号 6 (2022)
- 页面: 5-16
- 栏目: DERMATO-ONCOLOGY
- URL: https://journals.rcsi.science/1560-9588/article/view/132582
- DOI: https://doi.org/10.17816/dv112260
- ID: 132582
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详细
Brooke–Spiegler syndrome (Brooke-Spiegler syndrome; OMIM #605041) is a rare, autosomal dominant inherited monogenic disease caused by mutations in gene CYLD with its different penetrance.
It is clinically manifested by the development of multiple neoplasms of skin appendages such as spiradenoma, cylindroma, spiradenocylindroma and trichoepithelioma. Several phenotypic variants with mutations in gene CYLD have been described in the scientific literature. They are classic Brooke–Spiegler syndrome; multiple familial trichoepithelioma syndrome (multiple trichoepitheliomas without cylindromas, spiradenomas, etc.); familial cylindromatosis (multiple cylindromas on the scalp i.e., "turban tumor"); syndrome of multiple spiradenomas or spiradenocylindromas without other neoplasms of the skin appendages. For four diseases associated with CYLD mutations, the prevalence is <1/1 000 000.
The scientific literature describes more than 200 cases of Brooke–Spiegler syndrome, which is more common in women. Phenotypic manifestations of the CYLD mutation are variable, so there is no reliable statistics on the frequency of occurrence of clinical variants of Brooke–Spiegler syndrome. The variety of neoplasms of the skin appendages, the commonality of their histogenesis, the similarity of clinical and histological patterns significantly complicate the diagnosis. Verification of the diagnosis of Brooke–Spiegler syndrome is based on histological examination and sequencing of the CYLD gene.
作者简介
Tatiana Gaydina
The Russian National Research Medical University named after N.I. Pirogov; Federal Center of Brain Research and Neurotechnologies
编辑信件的主要联系方式.
Email: doc429@yandex.ru
ORCID iD: 0000-0001-8485-3294
SPIN 代码: 5216-2059
MD, Cand. Sci. (Med.), Associate Professor
俄罗斯联邦, Moscow; MoscowAnton Dvornikov
The Russian National Research Medical University named after N.I. Pirogov
Email: dvornikov_as@rsmu.ru
ORCID iD: 0000-0002-0429-3117
SPIN 代码: 2023-5783
MD, Dr. Sci. (Med.), Professor
俄罗斯联邦, MoscowPolina Skripkina
The Russian National Research Medical University named after N.I. Pirogov
Email: polina.skripkina@mail.ru
ORCID iD: 0000-0001-9953-1095
SPIN 代码: 3706-1349
MD, Cand. Sci. (Med.), Associate Professor
俄罗斯联邦, MoscowOlga Patsap
Federal Center of Brain Research and Neurotechnologies
Email: cleosnake@yandex.ru
ORCID iD: 0000-0003-4620-3922
SPIN 代码: 6460-1758
MD, Cand. Sci. (Med.)
俄罗斯联邦, MoscowAnastasiia Buianova
The Russian National Research Medical University named after N.I. Pirogov
Email: anastasiiabuianova97@gmail.com
ORCID iD: 0000-0001-7894-9222
SPIN 代码: 5725-7792
俄罗斯联邦, Moscow
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