vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v24i3.2911vsp-3776Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWНунан-подобный синдром с выпадением волос в фазе анагена: генетическая и фенотипическая вариабельность, дифференциальная диагностикаNoonan-Like Syndrome with Loose Anagen Hair: Genetic and Phenotypic Variability, Differential Diagnosishttps://orcid.org/0000-0002-4147-2309ВолгинаС. Я.VolginaSvetlana Ya.

Волгина Светлана Яковлевна - доктор медицинских наук, профессор кафедры госпитальной педиатрии.

420012, Казань, ул. Бутлерова, д. 49

тел.: +7 (843) 56-74-52

Kazan

volgina_svetlana@mail.ruhttps://orcid.org/0009-0005-8926-0136КурбановаЕ. С.KurbanovaYosuman S.

Казань

Kazan

https://orcid.org/0009-0008-5468-7166АбубакаровА. Ш.AbubakarovAydamir Sh.

Москва

Moscow

https://orcid.org/0009-0000-1547-7889НиматулаевА. М.NimatulaevArip M.

Москва

Moscow

https://orcid.org/0000-0001-7146-7220НиколаеваЕ. А.NikolaevaEkaterina A.

Москва

Moscow

https://orcid.org/0000-0002-8582-592XГамироваР. Г.GamirovaRimma G.

Казань

Kazan

Казанский государственный медицинский университетРоссияKazan State Medical UniversityRussian FederationРоссийский национальный исследовательский медицинский университет им. Н.И. Пирогова (Пироговский Университет)РоссияPirogov Russian National Research Medical UniversityRussian FederationРоссийский университет дружбы народов им. Патриса ЛумумбыРоссияPeople’s Friendship University of RussiaRussian FederationКазанский (Приволжский) федеральный университетРоссияKazan (Volga Region) Federal UniversityRussian Federation202521072025243130139Copyright © Волгина С.Я., Курбанова Е.С., Абубакаров А.Ш., Ниматулаев А.М., Николаева Е.А., Гамирова Р.Г., 20252025Волгина С.Я., Курбанова Е.С., Абубакаров А.Ш., Ниматулаев А.М., Николаева Е.А., Гамирова Р.Г.Volgina S.Y., Kurbanova Y.S., Abubakarov A.S., Nimatulaev A.M., Nikolaeva E.A., Gamirova R.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3776

В обзоре обобщены сведения о Нунан-подобном синдроме с выпадением волос в фазе анагена (НПСВВФА) из группы RAS-патий. Рассмотрены генетические аспекты синдрома, патогенез, клинические проявления и сопутствующие состояния. Обсуждается дифференциальная диагностика между двумя генетически гетерогенными типами НПСВВФА, вызванными изменениями в генах SHOC2 (НПСВВФА1) и PPP1CB (НПСВВФА2). Представлено описание пациента с подтвержденным НПСВВФА1. Обзор предназначен для повышения осведомленности врачей, в том числе в вопросах генотип-фенотипических корреляций при НПСВВФА. Последнее необходимо для генетического консультирования, диагностики и разработки новых методов лечения и реабилитации.

The review summarizes the data on Noonan-like syndrome with loose anagen hair (NSLH) from the group of RASopathies. The genetic aspects of the syndrome, its pathogenesis, clinical signs, and comorbitant conditions are considered. Particular attention is paid to the differential diagnosis between two genetically heterogeneous types of NSLH associated with mutations in the SHOC2 gene (NSLH1) and in the PPP1CB gene (NSLH2). Clinical case description of the patient with confirmed NSLH1 is presented. This review is intended to increase physicians’ awareness specifically on NSLH genotype-phenotype correlations. This is crucial for genetic counseling, diagnosis, and development of new management and rehabilitation methods.

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