medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2023.06.51-61medgen-2321Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASEКожно-скелетный синдром с гипофосфатемией: первое в России клиническое описание двух случаев заболевания с генетической верификацией диагнозаCutaneous skeletal hypophosphatemia syndrome: the first clinical description of two cases with genetic verification in RussiaКуликоваК. С.KulikovaK. S.

Куликова Кристина Сергеевна

115522, г. Москва, ул. Москворечье, д. 1

117036, г. Москва, ул. Дм. Ульянова, д.11

Kulikova Kristina

1, Moskvorechye st., Moscow, 115522

11, Dm. Ulyanova st., Moscow, 117036

kristinakulikova@gmail.comРайкинаЕ. Н.RaikinaE. N.

117036, г. Москва, ул. Дм. Ульянова, д.11

11, Dm. Ulyanova st., Moscow, 117036

ТолмачеваЕ. Р.TolmachevaE. R.

117997, г. Москва, ул. Академика Опарина, д. 4

4, Oparina st., Moscow, 117997

ПомеранцеваЕ. А.PomerantsevaE. A.

117997, г. Москва, ул. Академика Опарина, д. 4

4, Oparina st., Moscow, 117997

ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»; ФГБУ «Национальный медицинский исследовательский центр эндокринологии» Минздрава РоссииРоссияResearch Centre for Medical Genetics; National Medical Research Center for EndocrinologyRussian FederationФГБУ «Национальный медицинский исследовательский центр эндокринологии» Минздрава РоссииРоссияNational Medical Research Center for EndocrinologyRussian FederationФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии имени академика В.И. Кулакова» Минздрава РоссииРоссияNational Medical Research Center for Obstetrics, Gynecology and Perinatology Named after V.I.Kulakov, of the Ministry of Healthcare of Russian FederationRussian Federation2023131020232265161Copyright © Куликова К.С., Райкина Е.Н., Толмачева Е.Р., Померанцева Е.А., 20232023Куликова К.С., Райкина Е.Н., Толмачева Е.Р., Померанцева Е.А.Kulikova K.S., Raikina E.N., Tolmacheva E.R., Pomerantseva E.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2321

Кожно-скелетный синдром с гипофосфатемией (КССГ), или синдром сального невуса, – это редкая форма гипофосфатемического рахита, обусловленная потерей фосфора из-за аномально повышенного уровня фактора роста фибробластов 23 в результате соматической мутации в одном из генов цепи RAS (HRAS, NRAS, KRAS). Клинические проявления КССГ, помимо рахита, включают врожденные эпидермальные, меланоцитарные или сальные невусы и очаговые поражения костей ипсилатеральнее невусов. Сложность генетической диагностики заболевания заключается в необходимости поиска мутаций в материале пораженных тканей (кость, эпидермис). Пациенты с данным заболеванием подвержены высокому риску инвалидизации из-за выраженной мышечной гипотонии, остеомаляции, переломов костей и сложности коррекции тяжелой гипофосфатемии. Впервые в отечественной практике приведены клинические наблюдения двух неродственных пациентов с КССГ и подтвержденным молекулярногенетически диагнозом.

Cutaneous-skeletal hypophosphatemia syndrome (CSHS) or Epidermal nevus syndrome (ENS) associated with hypophosphatemic rickets is a rare variation of hypophosphatemic rickets caused by phosphate wasting due to elevated fibroblast growth factor-23 (FGF23) as a result of somatic gain‐of‐function variants in the HRAS, NRAS, or KRAS genes. Clinical symptoms of CSHS, besides rickets, are congenital epidermal, melanocytic and sebaceous nevus as well as focal bone lesions ipsilateral to nevus. What makes genetic diagnosis of this condition extremely problematic is the necessity of location of mutations in the affected tissues (bones, epidermis). Such patients have a high risk of becoming disabled due to severe hypotonia, osteomalacia, bone fractures and difficulties associated with treatment of severe hypophosphatemia. The first two clinical cases of two unrelated patients with such condition have been performed in Russia. Both patients have CSHS confirmed by genetic testing.

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