vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v21i6S.2482vsp-3069Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSФибродисплазия оссифицирующая прогрессирующая: литературный обзор и описание клинического случаяFibrodysplasia Ossificans Progressiva: Literature Review and Case Reporthttps://orcid.org/0000-0001-8195-8111КораблеваН. Н.KorablevaNatalya N.

Кораблева Наталья Николаевна - доктор медицинских наук, доцент, заведующая кафедрой педиатрии медицинского института.

167001, Сыктывкар, Октябрьский пр., 55, тел.: +7 (8212) 390-413

Syktyvkar

kemcard@yandex.ruhttps://orcid.org/0000-0002-6449-5407БерестневЕ. В.BerestnevEvgeniy V.

Сыктывкар

Syktyvkar

https://orcid.org/0000-0002-3153-0149КиселевС. М.KiselyovSergey M.

Сыктывкар

Syktyvkar

https://orcid.org/0000-0001-6524-9892ЧипсановаН. Ф.ChipsanovaNatalya F.

Сыктывкар

Syktyvkar

Сыктывкарский государственный университет им. Питирима СорокинаРоссияPitirim Sorokin Syktyvkar State UniversityRussian FederationКлинический кардиологический диспансерРоссияClinical Cardiology DispensaryRussian Federation202220012023216S558569Copyright © Кораблева Н.Н., Берестнев Е.В., Киселев С.М., Чипсанова Н.Ф., 20232023Кораблева Н.Н., Берестнев Е.В., Киселев С.М., Чипсанова Н.Ф.Korableva N.N., Berestnev E.V., Kiselyov S.M., Chipsanova N.F.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/3069Обоснование

Обоснование. Фибродисплазия оссифицирующая прогрессирующая (ФОП) — это генетическое заболевание из группы гетеротопических оссификаций, ассоциированное с мутацией в гене ACVR1/ALK2. ФОП характеризуется прогрессирующей гетеротопической эндохондральной оссификацией соединительной ткани, возникающей в постнатальном периоде, вследствие чего происходит формирование качественно нормальной кости во внескелетных участках. Для заболевания типична врожденная деформация больших пальцев стоп. Клиническая картина характеризуется обострениями, которые, как правило, вызваны травмой или вирусной инфекций. При обострениях наблюдается формирование гетеротопического оссификата. Этиологического лечения ФОП не разработано. В терапии используют системные глюкокортикостероиды, нестероидные противовоспалительные препараты (НПВП), стабилизаторы мембран мастоцитов, антилейкотриеновые препараты и бисфосфонаты.

Описание клинического случая. Ребенок родился с врожденной деформацией больших пальцев стоп, характерной для ФОП. Дебют заболевания отмечен  в возрасте 2 лет 8 мес с опухолевидного болезненного образования в области шеи. Было заподозрено онкологическое (лимфопролиферативное) заболевание, однако биопсия ткани из очага поражения наличия злокачественного новообразования не подтвердила. Ребенок консультирован детским ревматологом, которым был установлен диагноз ФОП. Инициирована терапия этанерцептом и золедроновой кислотой, однако впоследствии этанерцепт был отменен. На данный момент ребенок получает инфузии золедроновой кислоты 2 раза в год и ежедневно НПВП.

Заключение

Заключение. Трудности диагностики ФОП обусловлены спорадичностью болезни и схожестью клинической картины с другими заболеваниями. Подозрение злокачественного новообразования вынуждает проводить биопсию, которая крайне нежелательна при ФОП в связи с высоким риском ятрогенных осложнений.

Background

Background. Fibrodysplasia ossificans progressiva (FOP) is a genetic disease of the heterotopic ossification group associated with the mutation in ACVR1/ALK2 gene. FOP is characterized by progressive heterotopic endochondral ossification of connective tissue that occurs in postnatal period. It leads to formation of qualitatively normal bone in extraskeletal areas. Congenital hallux deformity   is typical for this disease. The clinical picture is characterized by aggravations that are usually caused by trauma or viral infections. Formation of Heterotopic ossificate formation can be observed during aggravations. There is no etiological treatment for FOP. Systemic glucocorticosteroids, non-steroidal anti-inflammatory drug (NSAIDs), mast cell stabilisers, antileukotriene drugs and bisphosphonates can be used in these patients.

Clinical case description. The child was born with congenital hallux deformity typical for FOP. The disease onset was noted at the age of 2 years 8 months with a tumor-like painful mass on the neck. Oncological (lymphoproliferative) disease was suspected but biopsy from the lesion did not confirm its malignant nature. The child was consulted by pediatric rheumatologist who has diagnosed FOP. Etanercept and zoledronic acid were administrated, though etanercept was later discontinued. For now, the child receives zoledronic acid infusions 2 times per year and daily NSAIDs.

Conclusion

Conclusion. The difficulties in FOP diagnosing are associated to its sporadic nature and clinical picture similarity to other diseases. Suspected malignancy leads to biopsy that is highly undesirable in FOP patients due to high risk of iatrogenic complications.

клинический случайфибродисплазия оссифицирующая прогрессирующаяоссифицирующий миозиторфанные заболеваниягетеротопическая оссификацияревматологияclinical casefibrodysplasia ossificans progressivamyositis ossificansorphan diseasesheterotopic ossificationrheumatologyАвторы статьи выражают признательность врачам Республиканской детской клинической больницы и лично врачу-онкогематологу Игорю Станиславовичу Севериновскому, первым заподозрившему наличие у пациента А. орфанное заболевание, а также главному детскому ревматологу Северо-Западного федерального округа доктору медицинских наук, профессору Михаилу Михайловичу Костику за консультирование пациента и помощь в выборе схемы леченияThe authors express their gratitude to the doctors of the Republican Children’s Clinical Hospital and personally to oncohematologist Igor Stanislavovich Severinovsky who was the first to suspect that patient A. had an orphan disease, and to chief pediatric rheumatologist of North Western Federal District, doctor of medicine, prof. 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The authors declare that there are no conflicts of interest present.