nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.21682/2311-1267-2024-11-3-78-86nodgo-1075Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL CASESСиндром Блоха–Сульцбергера в практике врача-детского онкологаBloch–Sulzberger syndrome in the practice of a pediatric oncologisthttps://orcid.org/0000-0002-2197-8863ЗеленоваЕ. Е.ZelenovaE. E.

Екатерина Евгеньевна Зеленова - врач-генетик поликлинического отделения НИИ детской онкологии и гематологии им. акад. РАМН Л.А. Дурнова НМИЦ онкологии им. Н.Н. Блохина, старший лаборант лаборатории биологических микрочипов ИМБ им. В.А. Энгельгардта РАН, AuthorID: 57223395012, ResearcherID: CAJ-5310-2022.

115522, Москва, Каширское шоссе, 23; ГСП-1, 119991, Москва, ул. Вавилова, 32

Geneticist Polyclinic Department of the Research Institute of Pediatric Oncology and Hematology named after Academician of the RAMS L.A. Durnov at N.N. Blokhin NMRCO, Senior Lab Assistant of the Laboratory of Biological Microchips of Engelhardt Institute of Molecular Biology, RAS.

23 Kashirskoe Shosse, Moscow, 115522; 32 Vavilova St., Moscow, 119991, GSP-1

zelenovayeye@gmail.comhttps://orcid.org/0000-0001-5911-553XБелышеваТ. С.BelyshevaT. S.

д.м.н., ведущий научный сотрудник поликлинического отделения службы внебюджетной медицинской деятельности НМИЦ онкологии им. Н.Н. Блохина, AuthorID: 57210744855, ResearcherID: AAC-7459-2022.

115522, Москва, Каширское шоссе, 23

Dr. of Sci. (Med.), Leading Researcher Polyclinic Department of Extra-Budgetary Medical Activities Service, AuthorID: 57210744855, ResearcherID: AAC-7459-2022.

23 Kashirskoe Shosse, Moscow, 115522

klinderma@bk.ruhttps://orcid.org/0000-0002-9705-1001СеменоваВ. В.SemenovaV. V.

Врач-генетик поликлинического отделения НИИ детской онкологии и гематологии им. акад. РАМН Л.А. Дурнова НМИЦ онкологии им. Н.Н. Блохина, аспирант лаборатории биологических микрочипов ИМБ им. В.А. Энгельгардта РАН.

115522, Москва, Каширское шоссе, 23; ГСП-1, 119991, Москва, ул. Вавилова, 32

Geneticist Polyclinic Department of the Research Institute of Pediatric Oncology and Hematology named after Academician of the RAMS L.A. Durnov at N.N. Blokhin NMRCO, Graduate Student of the Laboratory of Biological Microchips of Engelhardt Institute of Molecular Biology, RAS.

23 Kashirskoe Shosse, Moscow, 115522; 32 Vavilova St., Moscow, 119991, GSP-1

sulpiridum@yandex.ruБариноваИ. О.BarinovaI. O.

Старший лаборант лаборатории биологических микрочипов ИМБ им. В.А. Энгельгардта РАН.

ГСП-1, 119991, Москва, ул. Вавилова, 32

Senior Lab Assistant of the Laboratory of Biological Microchips of Engelhardt Institute of Molecular Biology, Russian Academy of Sciences.

32 Vavilova St., Moscow, 119991, GSP-1

irina.barinova.98@mail.ruhttps://orcid.org/0000-0002-5836-0338ШараповаЕ. В.SharapovaE. V.

Врач-онколог поликлинического отделения НИИ детской онкологии и гематологии им. акад. РАМН Л.А. Дурнова НМИЦ онкологии им. Н.Н. Блохина.

115522, Москва, Каширское шоссе, 23

Oncologist Polyclinic Department of the Research Institute of Pediatric Oncology and Hematology named after Academician of the RAMS L.A. Durnov at N.N. Blokhin NMRCO.

23 Kashirskoe Shosse, Moscow, 115522

SharapovaE.V@yandex.ruhttps://orcid.org/0000-0002-0442-5810КозловаВ. М.KozlovaV. M.

Врач-генетик поликлинического отделения НИИ детской онкологии и гематологии им. акад. РАМН Л.А. Дурнова НМИЦ онкологии им. Н.Н. Блохина.

115522, Москва, Каширское шоссе, 23

Geneticist Polyclinic Department of the Research Institute of Pediatric Oncology and Hematology named after Academician of the RAMS L.A. Durnov at N.N. Blokhin NMRCO.

23 Kashirskoe Shosse, Moscow, 115522

valentina-mk2011@yandex.ruhttps://orcid.org/0000-0002-8552-7682КлецкаяИ. С.KletskayaI. S.

Врач-патологоанатом патологоанатомического отделения РДКБ – филиала РНИМУ им. Н.И. Пирогова.

119571, Москва, Ленинский просп., 117

Pathologist of the Pathology Department at Russian Children’s Clinical Hospital – Branch of the N.I. Pirogov RNRMU.

117 Leninskiy Prosp., Moscow, 117997

ikletskaya@gmail.comhttps://orcid.org/0000-0003-4601-4726ЮгайО. В.YugayO. V.

Врач-офтальмолог поликлинического отделения НИИ детской онкологии и гематологии им. акад. РАМН Л.А. Дурнова НМИЦ онкологии им. Н.Н. Блохина.

115522, Москва, Каширское шоссе, 23

Ophthalmologist Polyclinic Department of the Research Institute of Pediatric Oncology and Hematology named after Academician of the RAMS L.A. Durnov at N.N. Blokhin NMRCO.

23 Kashirskoe Shosse, Moscow, 115522

yuga1983@mail.ruhttps://orcid.org/0000-0002-9944-3826ВолчекД. А.VolchekD. A.

к.м.н., врач-ортодонт, доцент кафедры стоматологии Института профессионального образования Первого МГМУ им. И.М. Сеченова.

119048, Москва, ул. Трубецкая, 8, стр. 2

Cand. Of Sci. (Med.), Orthodontist, Assistant Professor of the Department of Dentistry at the Institute of Professional Education.

Bldg. 2, 8 Trubetskaya St., Moscow, 119048

volchek_d_a@staff.sechenov.ruhttps://orcid.org/0000-0002-1469-2365ВалиевТ. Т.ValievT. T.

д.м.н., заведующий отделением детской онкологии и гематологии (химиотерапия гемобластозов) № 1 НИИ детской онкологии и гематологии им. акад. РАМН Л.А. Дурнова НМИЦ онкологии им. Н.Н. Блохина, профессор кафедры онкологии Первого МГМУ им. И.М. Сеченова.

115522, Москва, Каширское шоссе, 23; 119048, Москва, ул. Трубецкая, 8, стр. 2

Dr. of Sci. (Med.), Head of the Department of Pediatric Oncology and Hematology (Chemotherapy of Hemoblastosis) No. 1 of the Research Institute of Pediatric Oncology and Hematology named after Academician of the RAMS L.A. Durnov at the N.N. Blokhin NMRCO, Professor of Oncology Department at I.M. Sechenov First MSMU (Sechenov University).

23 Kashirskoe Shosse, Moscow, 115522; Bldg. 2, 8 Trubetskaya St., Moscow, 119048

timurvaliev@mail.ruhttps://orcid.org/0000-0002-2642-4202НаседкинаТ. В.NasedkinaT. V.

д.б.н., профессор, ведущий научный сотрудник лаборатории биологических микрочипов ИМБ им. В.А. Энгельгардта РАН.

ГСП-1, 119991, Москва, ул. Вавилова, 32

Dr. of Sci. (Biol.), Leading Researcher Laboratory.

32 Vavilova St., Moscow, 119991, GSP-1

tanased06@rambler.ruФГБУ «НМИЦ онкологии им. Н.Н. Блохина» Минздрава России; ФГБУН «Институт молекулярной биологии имени В.А. Энгельгардта Российской академии наук»РоссияN.N. Blokhin National Medical Research Centreof Oncology, Ministryof Healthof Russia; Engelhardt Institute of Molecular Biology, Russian Academy of SciencesRussian FederationФГБУ «НМИЦ онкологии им. Н.Н. Блохина» Минздрава РоссииРоссияN.N. Blokhin National Medical Research Centreof Oncology, Ministryof Healthof RussiaRussian FederationФГБУН «Институт молекулярной биологии имени В.А. Энгельгардта Российской академии наук»РоссияEngelhardt Institute of Molecular Biology, Russian Academy of SciencesRussian FederationРоссийская детская клиническая больница – филиал ФГАОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Минздрава РоссииРоссияRussian Children’s Clinical Hospital – Branch of the N.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaRussian FederationФГАОУ ВО «Первый Московский государственный медицинский университет имени И.М. Сеченова» Минздрава РоссииРоссияI.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of RussiaRussian FederationФГБУ «НМИЦ онкологии им. Н.Н. Блохина» Минздрава России; ФГАОУ ВО «Первый Московский государственный медицинский университет имени И.М. Сеченова» Минздрава РоссииРоссияN.N. Blokhin National Medical Research Centreof Oncology, Ministryof Healthof Russia; I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of RussiaRussian Federation2024311020241137886Copyright © Зеленова Е.Е., Белышева Т.С., Семенова В.В., Баринова И.О., Шарапова Е.В., Козлова В.М., Клецкая И.С., Югай О.В., Волчек Д.А., Валиев Т.Т., Наседкина Т.В., 20242024Зеленова Е.Е., Белышева Т.С., Семенова В.В., Баринова И.О., Шарапова Е.В., Козлова В.М., Клецкая И.С., Югай О.В., Волчек Д.А., Валиев Т.Т., Наседкина Т.В.Zelenova E.E., Belysheva T.S., Semenova V.V., Barinova I.O., Sharapova E.V., Kozlova V.M., Kletskaya I.S., Yugay O.V., Volchek D.A., Valiev T.T., Nasedkina T.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nodgo.org/jour/article/view/1075

Синдром Блоха–Сульцбергера (СБС) – редкий генодерматоз, ассоциированный с патогенными вариантами гена IKBKG (NEMO), локализованном на длинном плече X-хромосомы (Xq28). Среди клинических проявлений наиболее часто встречаются типичное стадийное поражение кожи, развитие офтальмологических и неврологических нарушений, а также аномалии строения зубов, волос и ногтей. Онкологические заболевания при СБС наблюдаются крайне редко и представлены единичными случаями ретинобластомы (РБ), нефробластомы, лейкоза и рака кожи.

В данной статье представлено описание 2 семей с СБС. В обоих случаях передача делеции 4–10-го экзонов гена IKBKG происходила по материнской линии. В первом случае офтальмологические изменения были подозрительны в отношении РБ, однако после обследования был установлен фиброз стекловидного тела и отслойка сетчатки. Во втором случае у одной из 3 сестер выявлен плоскоклеточный рак кожи в возрасте 11 лет.

Приведенные клинические наблюдения совместно с данными литературы демонстрируют важность повышения осведомленности детских онкологов о СБС ввиду возможной ассоциации данного синдрома с онкогенным риском.

Bloch–Sulzberger syndrome (SBS, incontinentia pigmenti) is a rare genodermatosis associated with pathogenic variants of the IKBKG (NEMO) gene localized on the long arm of the X chromosome (Xq28). Among the clinical manifestations, the most common are typical stageby-stage skin lesions, the development of ophthalmological and neurological pathology, as well as abnormalities of teeth, hair and nails. Cancer in SBS is extremely rare and known by sporadic cases of retinoblastoma, Wilms tumor, leukemia and skin cancer.

We performed clinical and genetic investigation of two families with SBS. In both cases, the deletion of the 4–10 exons of the IKBKG gene was transmitted through the maternal line. In the first case, ophthalmological changes were suspicious of retinoblastoma, but further examination revealed vitreous fibrosis and retinal detachment. In the second case, one of the three sisters was diagnosed with squamous cell skin carcinoma at the age of 11.

These clinical observations and the literature review, make necessary to increase the awareness of pediatric oncologists about SBS due to the possible association of this syndrome with an oncogenic risk.

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The authors declare that there are no conflicts of interest present.