mrjСовременная ревматологияModern Rheumatology Journal1996-70122310-158XIMA-PRESS, LLC10.14412/1996-7012-2025-6-109-116mrj-1887Research ArticleОБЗОРЫREVIEWSПоражение кожи при классических моногенных аутовоспалительных заболеваниях. Часть 1Skin involvement in classic monogenic autoinflammatory diseases. Part 1https://orcid.org/0000-0003-3689-431XСалугинаС. О.SaluginaS. O.

Светлана Олеговна Салугина

115522, Москва, Каширское шоссе, 34А

Olegovna Salugina

34A, Kashirskoe Shosse, Moscow 115522

pafon1@yandex.ruhttps://orcid.org/0000-0002-2282-1745ФедоровЕ. С.FedorovE. S.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow 115522

https://orcid.org/0000-0001-8099-2107ТоргашинаА. В.TorgashinaA. V.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow 115522

https://orcid.org/0000-0002-0513-6826КаледаМ. И.KaledaM. I.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow 115522

https://orcid.org/0000-0001-5562-0969БекетоваМ. Ф.BeketovaM. F.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow 115522

https://orcid.org/0000-0002-7857-9716СуханинаА. Ю.SukhaninaA. Yu.

115522, Москва, Каширское шоссе, 34А

34A, Kashirskoe Shosse, Moscow 115522

ФГБНУ «Научно-исследовательский институт ревматологии им. В.А. Насоновой»РоссияV.A. Nasonova Research Institute of RheumatologyRussian Federation202522122025196109116Copyright © Салугина С.О., Федоров Е.С., Торгашина А.В., Каледа М.И., Бекетова М.Ф., Суханина А.Ю., 20252025Салугина С.О., Федоров Е.С., Торгашина А.В., Каледа М.И., Бекетова М.Ф., Суханина А.Ю.Salugina S.O., Fedorov E.S., Torgashina A.V., Kaleda M.I., Beketova M.F., Sukhanina A.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://mrj.ima-press.net/mrj/article/view/1887

Аутовоспалительные заболевания (АВЗ) представляют собой гетерогенную группу состояний, патогенетически связанных с дисрегуляцией врожденного иммунитета и клинически характеризующихся повторяющимися эпизодами стерильного воспаления в вовлеченных органах при отсутствии инфекции, аллергии и высоких титров циркулирующих аутоантител либо аутореактивных Т-клеток. Подавляющее большинство моногенных АВЗ (мАВЗ) сопровождаются кожными высыпаниями, вариант которых обусловлен конкретным заболеванием и в определенной степени различными патогенетическими механизмами.

В первой части статьи представлены кожные характеристики наиболее часто встречающихся мАВЗ: семейной средиземноморской лихорадки (Familial Mediterranean Fever, FMF), ассоциированных с криопирином периодических синдромов (Сryopyrin-Associated Periodic Syndromes, CAPS), периодического синдрома, ассоциированного с рецептором фактора некроза опухоли (Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, TRAPS), периодического синдрома с гипериммуноглобулинемией D / синдрома дефицита мевалонаткиназы (Periodic Syndrome with Hyperimmunoglobulinemia D / Mevalonate Kinase Deficiency, HIDS/MKD). Поражение кожи при этих заболеваниях отражает системное воспаление, связанное с гиперпродукцией основного провоспалительного цитокина – интерлейкина (ИЛ) 1. При других АВЗ (NLRC4-ассоциированное аутовоспалительное заболевание – NLRC4-Associated Autoinflammatory Disease; дефицит антагониста рецептора ИЛ36 – Deficiency of IL-36 Receptor Antagonist, DITRA) симптоматика зависит в основном от повышения уровня таких цитокинов, как ИЛ18, ИЛ36 и др., а также от активации сигнальных путей интерферона (интерферонопатии). Разные патогенетические механизмы обусловливают разнообразие клинических фенотипов, в том числе кожных проявлений. Знание их особенностей помогает провести правильную диагностику, генетическое подтверждение диагноза, без которого в современных условиях невозможно точно идентифицировать эти редкие состояния, и подобрать соответствующее лечение. Особую вспомогательную функцию выполняет морфологическое исследование, которое необходимо использовать в сложных для диагностики ситуациях.

Autoinflammatory diseases (AIDs) represent a heterogeneous group of conditions pathogenetically associated with dysregulation of innate immunity and clinically characterized by recurrent episodes of sterile inflammation in affected organs in the absence of infection, allergy, and high titers of circulating autoantibodies or autoreactive T cells. The overwhelming majority of monogenic AIDs (mAIDs) are accompanied by skin rashes, the type of which is determined by the specific disease and, to some extent, by differing pathogenetic mechanisms.

The first part of the article presents the cutaneous characteristics of the most common mAIDs: Familial Mediterranean fever (FMF), cryopyrinassociated periodic syndromes (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), periodic syndrome with hyperimmunoglobulinemia D / mevalonate kinase deficiency (HIDS/MKD). Skin involvement in these diseases reflects systemic inflammation associated with hyperproduction of the key pro-inflammatory cytokine interleukin (IL)-1β. In other AIDs, symptoms mainly depend on increased levels of cytokines such as IL-18, IL-36, etc. (NLRC4-associated autoinflammatory disease; deficiency of the IL-36 receptor antagonist – DITRA), as well as activation of interferon signaling pathways (interferonopathies). Different pathogenetic mechanisms determine the diversity of clinical phenotypes, including cutaneous manifestations. Knowledge of these features helps establishing a correct diagnosis, obtaining genetic confirmation (without which accurate identification of these rare conditions is impossible today) and selecting appropriate therapy. Pathological examination plays a special auxiliary role and should be used in diagnostically challenging situations.

моногенные аутовоспалительные заболеваниясемейная средиземноморская лихорадкаассоциированные с криопирином периодические синдромыпериодический синдромассоциированный с рецептором фактора некроза опухолипериодический синдром с гипериммуноглобулинемией D / синдром дефицита мевалонаткиназыпоражение кожинейтрофильная уртикарияmonogenic autoinflammatory diseasesFamilial Mediterranean fevercryopyrin-associated periodic syndromestumor necrosis factor receptor-associated periodic syndromeperiodic syndrome with hyperimmunoglobulinemia D / mevalonate kinase deficiencyskin involvementneutrophilic urticariaСтатья подготовлена в рамках фундаментальной научной темы №1021051302580-4The article was prepared within the framework of the basic scientific project № 1021051302580-4ReferencesKastner DL, Aksentuevich I, GoldbachMansky R. Autoinflammatory disease reloaded: a clinical perspective. Cell. 2010 Mar 19;140(6):784-90. doi: 10.1016/j.cell.2010.03.002..Kastner DL, Aksentuevich I, GoldbachMansky R. 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The authors declare that there are no conflicts of interest present.