Russian Journal of Skin and Venereal DiseasesRussian Journal of Skin and Venereal Diseases1560-95882412-9097Eco-Vector11226010.17816/dv112260Research ArticleDifferential diagnosis of Brooke–Spiegler syndrome in a young woman with multiple trichoepitheliomasGaydinaTatiana A.<p>MD, Cand. Sci. (Med.), Associate Professor</p>doc429@yandex.ruhttps://orcid.org/0000-0001-8485-3294DvornikovAnton S.<p>MD, Dr. Sci. (Med.), Professor</p>dvornikov_as@rsmu.ruhttps://orcid.org/0000-0002-0429-3117SkripkinaPolina A.<p>MD, Cand. Sci. (Med.), Associate Professor</p>polina.skripkina@mail.ruhttps://orcid.org/0000-0001-9953-1095PatsapOlga I.<p>MD, Cand. Sci. (Med.)</p>cleosnake@yandex.ruhttps://orcid.org/0000-0003-4620-3922BuianovaAnastasiia A.anastasiiabuianova97@gmail.comhttps://orcid.org/0000-0001-7894-9222The Russian National Research Medical University named after N.I. PirogovFederal Center of Brain Research and Neurotechnologies170220232565160111202211112022Copyright © 2022, Gaydina T.A., Dvornikov A.S., Skripkina P.A., Patsap O.I., Buianova A.A.2022<p>BrookeSpiegler syndrome (Brooke-Spiegler syndrome; OMIM #605041) is a rare, autosomal dominant inherited monogenic disease caused by mutations in gene <em>CYLD</em> with its different penetrance.</p>
<p>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 <em>CYLD</em> have been described in the scientific literature. They are classic BrookeSpiegler 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 <em>CYLD</em> mutations, the prevalence is 1/1 000 000.</p>
<p>The scientific literature describes more than 200 cases of BrookeSpiegler syndrome, which is more common in women. Phenotypic manifestations of the <em>CYLD</em> mutation are variable, so there is no reliable statistics on the frequency of occurrence of clinical variants of BrookeSpiegler 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 BrookeSpiegler syndrome is based on histological examination and sequencing of the <em>CYL</em>D gene.</p>Brooke–Spiegler syndromemultiple family trichoepitheliomasc.2501dupCCYLD gene sequencingCO2-lasertreatmentсиндром Брука–Шпиглерамножественные семейные трихоэпителиомыc.2501dupCсеквенирование гена CYLDСО2-лазерлечение[Blake PW, Toro JR. 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