The prevalence of phakomatoses in Western Siberia

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Abstract

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.

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About the authors

Y. V. Maximova

Clinical Center for Family Health and Reproduction; Novosibirsk State Medical University

Email: elene-elene@bk.ru
ORCID iD: 0000-0002-9094-1714
Russian Federation, Novosibirsk; Novosibirsk

N. A. Chupyrko

Novosibirsk State Medical University

Email: elene-elene@bk.ru
Russian Federation, Novosibirsk

M. A. Vasilyeva

Clinical Center for Family Health and Reproduction; Novosibirsk State Medical University

Email: elene-elene@bk.ru
ORCID iD: 0000-0001-5990-9209
Russian Federation, Novosibirsk; Novosibirsk

V. E. Garny

Novosibirsk State Medical University

Email: elene-elene@bk.ru
ORCID iD: 0000-0002-2223-7039
Russian Federation, Novosibirsk

V. N. Maximov

Clinical Center for Family Health and Reproduction; Novosibirsk State Medical University

Email: elene-elene@bk.ru
ORCID iD: 0000-0002-7165-4496
Russian Federation, Novosibirsk; Novosibirsk

Elena V. Svechnikova

Polyclinic № 1 of the Administrative Department of the President of the Russian Federation; Russian Biotechnological University

Author for correspondence.
Email: elene-elene@bk.ru
ORCID iD: 0000-0002-5885-4872

Dr. Sci. (Med.), Professor at the Department of Skin and Venereal Diseases; Head of the Department of Dermatovenereology and Cosmetology

Russian Federation, Moscow; Moscow

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