Bloch–Sulzberger syndrome in the practice of a pediatric oncologist
E. E. Zelenova,
T. S. Belysheva,
V. V. Semenova,
I. O. Barinova,
E. V. Sharapova,
V. M. Kozlova,
I. S. Kletskaya,
O. V. Yugay,
D. A. Volchek,
T. T. Valiev,
T. V. Nasedkina https://doi.org/10.21682/2311-1267-2024-11-3-78-86
Abstract
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.
Supporting agencies: The study was performed without external funding
About the Authors
E. E. Zelenova
N.N. Blokhin National Medical Research Centreof Oncology, Ministryof Healthof Russia; Engelhardt Institute of Molecular Biology, Russian Academy of Sciences
Russian Federation
Russian Federation
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
T. S. Belysheva
N.N. Blokhin National Medical Research Centreof Oncology, Ministryof Healthof Russia
Russian Federation
Russian Federation
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
V. V. Semenova
N.N. Blokhin National Medical Research Centreof Oncology, Ministryof Healthof Russia; Engelhardt Institute of Molecular Biology, Russian Academy of Sciences
Russian Federation
Russian Federation
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
I. O. Barinova
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences
Russian Federation
Russian Federation
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
E. V. Sharapova
N.N. Blokhin National Medical Research Centreof Oncology, Ministryof Healthof Russia
Russian Federation
Russian Federation
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
V. M. Kozlova
N.N. Blokhin National Medical Research Centreof Oncology, Ministryof Healthof Russia
Russian Federation
Russian Federation
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
I. S. Kletskaya
Russian Children’s Clinical Hospital – Branch of the N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
Pathologist of the Pathology Department at Russian Children’s Clinical Hospital – Branch of the N.I. Pirogov RNRMU.
117 Leninskiy Prosp., Moscow, 117997
O. V. Yugay
N.N. Blokhin National Medical Research Centreof Oncology, Ministryof Healthof Russia
Russian Federation
Russian Federation
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
D. A. Volchek
I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia
Russian Federation
Russian Federation
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
T. T. Valiev
N.N. Blokhin National Medical Research Centreof Oncology, Ministryof Healthof Russia; I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia
Russian Federation
Russian Federation
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
T. V. Nasedkina
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences
Russian Federation
Russian Federation
Dr. of Sci. (Biol.), Leading Researcher Laboratory.
32 Vavilova St., Moscow, 119991, GSP-1
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For citations:
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. Bloch–Sulzberger syndrome in the practice of a pediatric oncologist. Russian Journal of Pediatric Hematology and Oncology. 2024;11(3):78-86. (In Russ.) https://doi.org/10.21682/2311-1267-2024-11-3-78-86
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