Русский
The prevalence of phakomatoses in Western Siberia
DOI: https://dx.doi.org/10.18565/pharmateca.2023.8.103-109
Yu.V. Maximova, N.A. Chupyrko, M.A. Vasilyeva, V.E. Garny, V.N. Maximov, E.V. Svechnikova
1) Clinical Center for Family Health and Reproduction, Novosibirsk, Russia; 2) Novosibirsk State Medical University, Novosibirsk, Russia; 3) Research Institute of Therapy and Preventive Medicine - Branch of Federal Research Center “Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences”, Novosibirsk, Russia; 4) Polyclinic № 1 of the Administrative Department of the President of the Russian Federation, Moscow, Russia; 5) Russian Biotechnological University, Moscow, Russia
Objective. Evaluation of the prevalence of phakomatoses, features of clinical manifestations of diseases classified in the 10th revision of the International Statistical Classification of Diseases and Related Health Problems under the heading «Phakomatoses», not classified in other headings (Q85), in the population of the Novosibirsk region, including Novosibirsk.
Methods. Retrospective analysis of proband maps with an established clinical diagnosis, included in the group of phakomatoses: Q85.0 Neurofibromatosis (non-malignant), Recklinghausen’s disease, Q85.1 Tuberous sclerosis (Bourneville’s disease, Epiloia), Q85.8 other phakomatoses, not elsewhere classified (Syndromes: Peutz-Jeghers, Strudge-Weber, Hippel-Lindau) at the Clinical Department of the Medical Genetic Center (MGC) of Clinical Center for Family Health and Reproduction for 12 years (from 2010 to 2022) was performed. Diagnoses of specific phakomatosis, were made using diagnostic criteria recommended by the International Committee of Experts on Specific Nosology.
Results. Over the past 12 years, the following cases have been followed-up in the MGC: Q85.0 Neurofibromatosis (non-malignant), Recklinghausen’s disease – 118 probands, taking into account sick relatives (93 people) – a total of 211 patients; the prevalence in Novosibirsk and the region is 1: 13242; Q85.1 Tuberous sclerosis (Bourneville’s disease, Epiloia) – 44 probands, including sick relatives (15 people) – a total of 59 patients, prevalence in Novosibirsk and the region – 1:47,000 inhabitants; Q85.8 Other phakomatoses, not elsewhere classified: Peutz-Jeghers syndrome – 8 patients, all cases were sporadic, prevalence in Novosibirsk and the region – 1:349 283, Stradzh-Weber syndrome (more often called Sturge-Weber in the literature) – 15 patients, all cases were sporadic, the prevalence in Novosibirsk and the region was 1:186,284 residents, the Hippel–Lindau syndrome – 3 sporadic cases, the prevalence in Novosibirsk and the region was 1:9440.
Conclusion. Phakomatoses are polysystemic diseases that require a systematic approach to diagnosis and correction. The prevalence of type 1 neurofibromatosis in Novosibirsk and the region is 1:13 242, tuberous sclerosis – 1:47 000, Peitz-Jeghers – 1:349 283, Stradzh-Weber – 1:186 284, Hippel-Lindau – 1:931 422 The total prevalence of phakomatoses in Novosibirsk and the region is 1:9440.
Methods. Retrospective analysis of proband maps with an established clinical diagnosis, included in the group of phakomatoses: Q85.0 Neurofibromatosis (non-malignant), Recklinghausen’s disease, Q85.1 Tuberous sclerosis (Bourneville’s disease, Epiloia), Q85.8 other phakomatoses, not elsewhere classified (Syndromes: Peutz-Jeghers, Strudge-Weber, Hippel-Lindau) at the Clinical Department of the Medical Genetic Center (MGC) of Clinical Center for Family Health and Reproduction for 12 years (from 2010 to 2022) was performed. Diagnoses of specific phakomatosis, were made using diagnostic criteria recommended by the International Committee of Experts on Specific Nosology.
Results. Over the past 12 years, the following cases have been followed-up in the MGC: Q85.0 Neurofibromatosis (non-malignant), Recklinghausen’s disease – 118 probands, taking into account sick relatives (93 people) – a total of 211 patients; the prevalence in Novosibirsk and the region is 1: 13242; Q85.1 Tuberous sclerosis (Bourneville’s disease, Epiloia) – 44 probands, including sick relatives (15 people) – a total of 59 patients, prevalence in Novosibirsk and the region – 1:47,000 inhabitants; Q85.8 Other phakomatoses, not elsewhere classified: Peutz-Jeghers syndrome – 8 patients, all cases were sporadic, prevalence in Novosibirsk and the region – 1:349 283, Stradzh-Weber syndrome (more often called Sturge-Weber in the literature) – 15 patients, all cases were sporadic, the prevalence in Novosibirsk and the region was 1:186,284 residents, the Hippel–Lindau syndrome – 3 sporadic cases, the prevalence in Novosibirsk and the region was 1:9440.
Conclusion. Phakomatoses are polysystemic diseases that require a systematic approach to diagnosis and correction. The prevalence of type 1 neurofibromatosis in Novosibirsk and the region is 1:13 242, tuberous sclerosis – 1:47 000, Peitz-Jeghers – 1:349 283, Stradzh-Weber – 1:186 284, Hippel-Lindau – 1:931 422 The total prevalence of phakomatoses in Novosibirsk and the region is 1:9440.
Keywords: Hippel-Lindau syndrome, Sturge-Weber syndrome, Peutz-Jeghers syndrome, polymorphism of clinical manifestations, neurofibromatosis type 1, tuberous sclerosis, prevalence
About the Autors
Corresponding author: Elena V. Svechnikova, Dr. Sci. (Med.), Professor at the Department of Skin and Venereal Diseases, Russian Biotechnological University; Head of the Department of Dermatovenereology and Cosmetology, Polyclinic № 1 of the Administrative Departmnt of the President of the Russian Federation, Moscow, Russia; elene-elene@bk.ru
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