vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v23i3.2759vsp-3524Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSФолликулярный ихтиоз с атрихией и фотофобией (IFAP-синдром), тип 2: клинический случайIchthyosis Follicularis, Atrichia, and Photophobia (IFAP) Syndrome, Type 2: Clinical Casehttps://orcid.org/0000-0002-8232-8936АмбарчянЭ. Т.AmbarchyanEduard T.

Амбарчян Эдуард Тигранович - кандидат медицинских наук, заведующий отделением дерматологии НИИ педиатрии и охраны здоровья детей НКЦ №2.

117593, Москва, Литовский бульвар, д. 1а

Moscow

edo_amb@mail.ruhttps://orcid.org/0000-0003-3003-9398КузьминоваА. Д.KuzminovaAnastasiya D.

Москва

Moscow

https://orcid.org/0009-0004-7103-4176ЭльдароваТ. К.EldarovaTotuy K.

Москва

Moscow

https://orcid.org/0000-0002-6760-3119ИванчиковВ. В.IvanchikovVladislav V.

Москва

Moscow

https://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNataliya V.

Москва

Moscow

https://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.

Москва

Moscow

НИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»РоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryRussian FederationРНИМУ им. Н.И. ПироговаРоссияPirogov Russian National Research Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; РНИМУ им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityRussian Federation202412072024233181187Copyright © Амбарчян Э.Т., Кузьминова А.Д., Эльдарова Т.К., Иванчиков В.В., Журкова Н.В., Вашакмадзе Н.Д., 20242024Амбарчян Э.Т., Кузьминова А.Д., Эльдарова Т.К., Иванчиков В.В., Журкова Н.В., Вашакмадзе Н.Д.Ambarchyan E.T., Kuzminova A.D., Eldarova T.K., Ivanchikov V.V., Zhurkova N.V., Vashakmadze N.D.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/3524Обоснование

Обоснование. Фолликулярный ихтиоз с атрихией и фотофобией (ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome), тип 2 — редкое наследственное заболевание из группы синдромальных форм ихтиозов. Клинически характеризуется триадой: невоспалительный фолликулярный ихтиоз, тотальная или субтотальная алопеция при рождении или вскоре после него и фотофобия разной степени тяжести. Этиотропная терапия IFAP-синдрома не разработана, а симптоматическое лечение (смягчающие средства, кератолитики, ретиноиды) направлено на стабилизацию состояния и поддержание оптимального качества жизни пациентов. По данным на 2023 г., по всему миру описано около 60 случаев IFAP-синдрома, но ни одного в России.

Описание клинического случая. У девочки, возраст 2 года 3 мес, отмечены признаки ксеродермии, фолликулярного гиперкератоза, а также фотофобия со слезотечением и алопеция. Диагноз «фолликулярный ихтиоз с атрихией и фотофобией (IFAP-синдром), тип 2, тип наследования — аутосомно-доминантный» выставлен на основании анамнестических данных, клинических проявлений и результатов секвенирования полного экзома с последующей валидацией выявленного нуклеотидного варианта chr17:17720597G>A, с.1669C>T (p.Arg557Cys NM_001005291.2) в экзоне 9 гена SREBF1 методом прямого автоматического секвенирования у пациентки и обоих родителей (у последних не выявлен).

Заключение

Заключение. Для установления IFAP-синдрома необходимо молекулярно-генетическое исследование, так как клинические проявления болезни схожи с таковыми при других дерматозах. Вместе с тем врачам необходимо сохранять настороженность при выявлении случаев фолликулярного ихтиоза в сочетании с алопецией и фотофобией при или вскоре после рождения для своевременной диагностики IFAP-синдрома и, таким образом, предотвращения задержек в назначении терапии.

Background

Background. Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome), type 2 is a rare hereditary disease from the group of syndromic forms of ichthyosis. It is clinically characterized by triad of non-inflammatory follicular ichthyosis, total or subtotal alopecia at birth or shortly after, and photophobia of different severity. There is no etiotropic therapy for IFAP syndrome, while symptomatic treatment (emollients, keratolytics, retinoids) is aimed on stabilizing the patient’s condition and maintaining the optimal quality of life. About 60 cases of IFAP syndrome have been described worldwide by 2023, and none in Russia.

Clinical case description. The girl, 2 years 3 months old, had signs of xeroderma, follicular hyperkeratosis, photophobia with lacrimation, and alopecia. The diagnosis of “ichthyosis follicularis with atrichia and photophobia (IFAP syndrome), type 2, autosomal dominant” was established according to anamnesis, clinical signs, and results of whole-exome sequencing, followed by validation of the identified nucleotide variant chr17:17720597G>A, p.1669C>T (p.Arg557Cys NM_001005291.2) in exon 9 of the SREBF1 gene via direct automatic sequencing in the patient and both parents (not revealed in her parents).

Conclusion

Conclusion. Molecular genetic testing is crucial to establish IFAP syndrome as clinical signs of the disease are similar to other dermatoses. However, physicians need to have clinical suspicion when identifying cases of follicular ichthyosis in combination with alopecia and photophobia at or shortly after birth to timely diagnose IFAP syndrome and thus prevent any treatment delays.

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