vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v23i5.2804vsp-3614Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSУспехи иммунопатогенетической терапии комбинированной формы врожденного ихтиоза у ребенка: редкий клинический случайSuccess of Immunopathogenetic Therapy for Management of Congenital Ichthyosis, Combined Form, in a Child: Rare Clinical Casehttps://orcid.org/0000-0002-7335-6329АветисянК. О.AvetisyanKarine O.

Аветисян Карине Ониковна, младший научный сотрудник, врач аллерголог-иммунолог высшей категории

119296, Москва, Ломоносовский пр-т, д. 2, стр. 1, тел.: +7 (495) 967-14-20

Moscow

avetisyan.karine@mail.ruhttps://orcid.org/0000-0003-2252-8570МурашкинН. Н.MurashkinNikolay N.

Москва

Moscow

https://orcid.org/0009-0003-5367-3268ПавловаЕ. С.PavlovaEkaterina S.

Москва

Moscow

https://orcid.org/0000-0002-0081-0981ИвановР. А.IvanovRoman A.

Москва

Moscow

https://orcid.org/0000-0003-0896-6996ПетричукС. В.PetrichukSvetlana V.

Москва

Moscow

https://orcid.org/0000-0001-7771-3314КупцоваД. Г.KuptsovaDaria G.

Москва

Moscow

https://orcid.org/0000-0002-4622-3010ДемьяновД. С.DemyanovDmitrii S.

Москва

Moscow

https://orcid.org/0000-0003-4885-4171СавостьяновК. В.SavostyanovKirill V.

Москва

Moscow

НМИЦ здоровья детейРоссияNational Medical Research Center of Children’s HealthRussian FederationНМИЦ здоровья детей; Первый МГМУ им. И.М. Сеченова (Сеченовский Университет); ЦГМА УДП РФРоссияNational Medical Research Center of Children’s Health; Sechenov First Moscow State Medical University; Central State Medical Academy of Department of Presidential AffairsRussian Federation202401112024235391401Copyright © Аветисян К.О., Мурашкин Н.Н., Павлова Е.С., Иванов Р.А., Петричук С.В., Купцова Д.Г., Демьянов Д.С., Савостьянов К.В., 20242024Аветисян К.О., Мурашкин Н.Н., Павлова Е.С., Иванов Р.А., Петричук С.В., Купцова Д.Г., Демьянов Д.С., Савостьянов К.В.Avetisyan K.O., Murashkin N.N., Pavlova E.S., Ivanov R.A., Petrichuk S.V., Kuptsova D.G., Demyanov D.S., Savostyanov K.V.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/3614

Обоснование. Врожденный ихтиоз (ВИ) относится к группе клинико-генетически гетерогенных форм тяжелых генодерматозов. Синдром SAM входит в классификацию синдромальных форм ВИ. Причиной заболевания являются генетические дефекты в генах десмоплакина (DSP) и десмоглеина 1 (DSG1). Нарушение функции кодируемых белков приводит к десмосомальным аномалиям и симптомам заболевания. Сопутствующий атопический синдром становится основной причиной диагностических ошибок. Больные длительное время наблюдаются с диагнозом: «Атопический дерматит (АтД), торпидный к стандартным методам лечения». Описание клинического случая. В статье представлено описание редкого случая мальчика с тяжелой формой АтД. В ходе исследований у пациента, помимо хронического дерматоза, были выявлены системные нарушения: низкорослость, белково-энергетическая недостаточность, надпочечниковая недостаточность, юношеский полиартрит, дефицит витамина D, ониходистрофия, дисморфические изменения. Молекулярно-генетическое исследование, проведенное методом высокопроизводительного секвенирования с последующей валидацией с помощью секвенирования по Сенгеру, позволило обнаружить два генетических варианта: не описанный ранее вариант chr18:28934543G>T в гене DSG1 в гетерозиготном состоянии и патогенный вариант chr5:157468728C>A в гене NIPAL4 в гомозиготном состоянии. В результате был установлен окончательный диагноз: «Синдром SAM. Врожденная ихтиозиформная эритродермия». Иммунологическое исследование по методу проточной цитометрии показало доминирующий иммунологический профиль в виде пролиферации Тh17-, Thact-лимфоцитов. Пациенту была инициирована иммунобиологическая терапия ингибитором IL-17A секукинумабом. Клиническая эффективность оценена с помощью шкалы ISS (индекс тяжести ихтиоза), CDLQI (дерматологический индекс качества жизни детей), нумерологической шкалы зуда. На старте терапии ISS составил 5,8 балла, шкала зуда — 9, CDLQI — 24. Уже через месяц получено улучшение состояния кожи. Через 6 мес после начала терапии: ISS — 1,2 балла, зуд — 2, CDLQI — 4. Заключение. Постановка диагноза ребенку с комбинированной формой ВИ позволила изменить стратегию лечения, назначить патогенетически обоснованную таргетную иммунобиологическую терапию, добиться значительного улучшения состояния здоровья и качества жизни ребенка, не отличающегося от такового у его здоровых сверстников.

Background. Congenital ichthyosis (CI) is relating to the group of clinical and genetically heterogeneous severe genodermatoses. SAM syndrome is included in classification of CI syndromic forms. Defects in the desmoplakin (DSP) and desmoglein 1 (DSG1) genes are the prime cause of disease. Impaired function of encoded proteins leads to desmosomal anomalies and disease symptoms. Comorbid atopic syndrome becomes the major cause of diagnostic mistakes. Patients are observed continuously with diagnosis “Atopic dermatitis (AD) torpid to standard treatment methods”. Clinical case description. This article describes a rare case of a boy with severe AD. Despite the chronic dermatosis several systemic disorders were revealed during examination: short stature, protein-energy malnutrition, adrenal insufficiency, juvenile polyarthritis, vitamin D deficiency, onychodystrophy, dysmorphic disorders. Molecular genetic study conducted via high-throughput sequencing followed by validation with Sanger sequencing has revealed two genetic variants: novel variant chr18:28934543G>T in the DSG1 gene in the heterozygous state and pathogenic variant chr5:157468728C>A in the NIPAL4 gene in the homozygous state. As a result, the final diagnosis was established: “SAM syndrome. Congenital ichthyosiform erythroderma”. Flow cytometry immunology study has shown dominant immunological profile of Th17-, and Thact-lymphocyte proliferation. The immunobiological therapy with IL-17A inhibitor, secukinumab, was initiated. Clinical efficacy was evaluated via ISS (Ichthyosis Severity Index), CDLQI (Children’s Dermatology Life Quality Index), pruritus numerical rating scale. ISS was 5.8 points, pruritus scale — 9, CDLQI — 24 at therapy initiation. Improvement in the skin condition was observed after a month of therapy. ISS was 1.2 points, pruritus scale — 2, CDLQI — 4 6 months after the therapy initiation. Conclusion. The diagnosis of a child with combined form of CI made it possible to change the management strategy, to prescribe pathogenetically justified targeted immunobiological therapy, and to achieve significant improvement in the child's health and quality of life, which does not differ from healthy peers.

врожденный ихтиозсиндром SAMARCIатопический дерматитDSG1DSPNIPAL4таргетная иммунобиологическая терапияcongenital ichthyosisSAM syndromeARCIatopic dermatitisDSG1DSPNIPAL4targeted immunotherapyОтсутствует.Not declared.ReferencesМурашкин Н.Н., Аветисян К.О., Иванов Р.А., Макарова C.Г. Врожденный ихтиоз: клинико-генетические характеристики заболевания // Вопросы современной педиатрии. — 2022. — Т. 21. — № 5. — С. 362–377. — doi: https://doi.org/10.15690/vsp.v21i5.2459Murashkin NN, Avetisyan KO, Ivanov RA, Makarova SG. Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease. Voprosy sovremennoi pediatrii — Current Pediatrics. 2022;21(5):362–377. (In Russ). doi: https://doi.org/10.15690/vsp.v21i5.2459Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 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The authors declare that there are no conflicts of interest present.