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Как правило, они доброкачественные, но в некоторых случаях могут перерождаться в рак [1](https://gemotest.ru/info/spravochnik/zabolevaniya/neyrofibromatoz/). \n\nВыделяют несколько типов нейрофиброматоза, например: \n* **Нейрофиброматоз I типа** (болезнь Реклингхаузена) — наиболее распространённая форма, часто проявляется в детстве [2](https://www.gmsclinic.ru/diseases/nejrofibromatoz)[7](https://newmed74.ru/nejrofibromatoz-ili-bolezn-reklinghauzena/). \n* **Нейрофиброматоз II типа** — встречается реже, выявляется в подростковом или взрослом возрасте [2](https://www.gmsclinic.ru/diseases/nejrofibromatoz). Отличительная черта — нарушение слуха из-за опухолевых образований в ушах [2](https://www.gmsclinic.ru/diseases/nejrofibromatoz). \n* **Нейрофиброматоз третьего типа (шванноматоз)** — самая редкая форма, опухоли формируются в основном на периферических нервах [1](https://gemotest.ru/info/spravochnik/zabolevaniya/neyrofibromatoz/).\n\n## Причины\nЗаболевание развивается из-за **генетических мутаций** [2](https://www.gmsclinic.ru/diseases/nejrofibromatoz)[6](https://doct.ru/articles/nejrofibromatoz.html). Большинство случаев обусловлено изменением в генах NF1 и NF2 [6](https://doct.ru/articles/nejrofibromatoz.html): \n* **NF1** (хромосома 17) — кодирует нейрофибромин, который контролирует клеточный рост [6](https://doct.ru/articles/nejrofibromatoz.html)[7](https://newmed74.ru/nejrofibromatoz-ili-bolezn-reklinghauzena/). Мутации в гене NF1 приводят к снижению или потере активности нейрофибромина, что способствует неограниченному делению клеток и развитию нейрофибром [6](https://doct.ru/articles/nejrofibromatoz.html). \n* **NF2** (хромосома 22) — кодирует белок мерлин, который контролирует рост и развитие клеток [6](https://doct.ru/articles/nejrofibromatoz.html)[7](https://newmed74.ru/nejrofibromatoz-ili-bolezn-reklinghauzena/). Мутации в гене NF2 приводят к утрате нормальной функции мерлина и, следовательно, к развитию нейрофибром [6](https://doct.ru/articles/nejrofibromatoz.html). \n\nТип наследования — аутосомно-доминантный: если один из родителей болен, вероятность передачи патологии ребёнку составляет 50% [7](https://newmed74.ru/nejrofibromatoz-ili-bolezn-reklinghauzena/). Но примерно в половине случаев причина кроется в случайных мутациях [7](https://newmed74.ru/nejrofibromatoz-ili-bolezn-reklinghauzena/).\n\n## Симптомы\nПроявления нейрофиброматоза зависят от типа заболевания [1](https://gemotest.ru/info/spravochnik/zabolevaniya/neyrofibromatoz/). Некоторые симптомы: \n* **Образование нейрофибром** — новообразований, развивающихся из нервных оболочек [2](https://www.gmsclinic.ru/diseases/nejrofibromatoz). \n* **Пигментные пятна на коже** цвета «кофе с молоком» [2](https://www.gmsclinic.ru/diseases/nejrofibromatoz)[8](https://wiki.nenaprasno.ru/a/neirofibromatoz-1-tipa). \n* **Деформации скелета** — сколиоз, искривление длинных костей [1](https://gemotest.ru/info/spravochnik/zabolevaniya/neyrofibromatoz/). \n* **Ухудшение слуха и зрения** — например, при нейрофиброматозе второго типа опухоли обычно развиваются на слуховом нерве, из-за чего слух постепенно снижается, появляется шум в ушах, головокружение [1](https://gemotest.ru/info/spravochnik/zabolevaniya/neyrofibromatoz/). \n* **Неврологические нарушения** — большие опухоли могут сдавливать нервы и вызывать боль, кожный зуд, снижение чувствительности и мышечную слабость [2](https://www.gmsclinic.ru/diseases/nejrofibromatoz).\n\n## Диагностика\nПри подозрении на нейрофиброматоз часто требуется помощь нескольких специалистов — невролога, дерматолога, офтальмолога, ортопеда, онколога, хирурга, генетика [1](https://gemotest.ru/info/spravochnik/zabolevaniya/neyrofibromatoz/). \n\nДля уточнения диагноза могут назначить МРТ и КТ спинного и головного мозга, внутренних органов [11](https://www.KrasotaiMedicina.ru/diseases/genetic/neurofibromatosis).\n\n## Лечение\n**Специфического лечения нейрофиброматоза не существует** [12](https://www.invitro.ru/library/bolezni/36142/). Терапия заключается в **симптоматической помощи** [11](https://www.KrasotaiMedicina.ru/diseases/genetic/neurofibromatosis). Некоторые методы лечения: \n* **Хирургическое удаление** нейрофибром, провоцирующих боль, расположенных в местах повышенного риска травмирования, сдавливающих или смещающих жизненно важные органы [11](https://www.KrasotaiMedicina.ru/diseases/genetic/neurofibromatosis). \n* **При множественных новообразованиях** назначается лучевая терапия, химиотерапия [11](https://www.KrasotaiMedicina.ru/diseases/genetic/neurofibromatosis). \n* **Больным с поражением опорно-двигательного аппарата** показаны реабилитационные мероприятия (физиолечение, ЛФК) [11](https://www.KrasotaiMedicina.ru/diseases/genetic/neurofibromatosis).","linksData":[{"sourceId":1,"url":"https://gemotest.ru/info/spravochnik/zabolevaniya/neyrofibromatoz/","shownUrl":"https://gemotest.ru/info/spravochnik/zabolevaniya/neyrofibromatoz/","title":"Нейрофиброматоз 1, 2, 3-го типа, что это, симптомы и лечение","shortUrl":"gemotest.ru","isTranslated":false,"description":"","greenUrl":"gemotest.ru"},{"sourceId":2,"url":"https://www.gmsclinic.ru/diseases/nejrofibromatoz","shownUrl":"https://www.gmsclinic.ru/diseases/nejrofibromatoz","title":"Нейрофиброматоз — причины, симптомы, диагностика и лечение заболевания","shortUrl":"gmsclinic.ru","isTranslated":false,"description":"","greenUrl":"gmsclinic.ru"},{"sourceId":3,"url":"https://analizy-Sochi.ru/zabolevaniya/nejrofibromatoz.html","shownUrl":"https://analizy-Sochi.ru/zabolevaniya/nejrofibromatoz.html","title":"Как выявить нейрофиброматоз | Справочник медицинской лаборатории Оптимум (Сочи, Адлер)","shortUrl":"analizy-Sochi.ru","isTranslated":false,"description":"","greenUrl":"analizy-Sochi.ru"},{"sourceId":4,"url":"https://semeynaya.ru/directions/nevrologiya/Neyrofibromatoz/","shownUrl":"https://semeynaya.ru/directions/nevrologiya/Neyrofibromatoz/","title":"Нейрофиброматоз","shortUrl":"semeynaya.ru","isTranslated":false,"description":"","greenUrl":"semeynaya.ru"},{"sourceId":5,"url":"https://genomed.ru/journal/zdorove-kozhi-volos-i-nogtej/nejrofibromatoz","shownUrl":"https://genomed.ru/journal/zdorove-kozhi-volos-i-nogtej/nejrofibromatoz","title":"Нейрофиброматоз: причины, симптомы, диагностика и лечение | ООО «Геномед»","shortUrl":"genomed.ru","isTranslated":false,"description":"","greenUrl":"genomed.ru"},{"sourceId":6,"url":"https://doct.ru/articles/nejrofibromatoz.html","shownUrl":"https://doct.ru/articles/nejrofibromatoz.html","title":"Нейрофиброматоз: причины, симптомы и лечение","shortUrl":"doct.ru","isTranslated":false,"description":"","greenUrl":"doct.ru"},{"sourceId":7,"url":"https://newmed74.ru/nejrofibromatoz-ili-bolezn-reklinghauzena/","shownUrl":"https://newmed74.ru/nejrofibromatoz-ili-bolezn-reklinghauzena/","title":"Нейрофиброматоз Реклингхаузена - причины, симптомы, диагностика и лечение в Челябинске | Медицинский центр Ньюмед","shortUrl":"newmed74.ru","isTranslated":false,"description":"","greenUrl":"newmed74.ru"},{"sourceId":8,"url":"https://wiki.nenaprasno.ru/a/neirofibromatoz-1-tipa","shownUrl":"https://wiki.nenaprasno.ru/a/neirofibromatoz-1-tipa","title":"Онко Вики - Нейрофиброматоз 1 типа","shortUrl":"wiki.nenaprasno.ru","isTranslated":false,"description":"","greenUrl":"wiki.nenaprasno.ru"},{"sourceId":9,"url":"https://diseases.medelement.com/disease/%D0%BD%D0%B5%D0%B9%D1%80%D0%BE%D1%84%D0%B8%D0%B1%D1%80%D0%BE%D0%BC%D0%B0%D1%82%D0%BE%D0%B7-%D1%83-%D0%B4%D0%B5%D1%82%D0%B5%D0%B9-%D0%BA%D1%80-%D1%80%D0%BA-2023/18600","shownUrl":"https://diseases.medelement.com/disease/%D0%BD%D0%B5%D0%B9%D1%80%D0%BE%D1%84%D0%B8%D0%B1%D1%80%D0%BE%D0%BC%D0%B0%D1%82%D0%BE%D0%B7-%D1%83-%D0%B4%D0%B5%D1%82%D0%B5%D0%B9-%D0%BA%D1%80-%D1%80%D0%BA-2023/18600","title":"Нейрофиброматоз у детей > Клинические протоколы МЗ РК - 2023 (Казахстан) > MedElement","shortUrl":"diseases.medelement.com","isTranslated":false,"description":"","greenUrl":"diseases.medelement.com"},{"sourceId":10,"url":"https://medcentr-Endomedlab.ru/zabolevanija/nejrofibromatozy.html","shownUrl":"https://medcentr-Endomedlab.ru/zabolevanija/nejrofibromatozy.html","title":"Как определить нейрофиброматозы | Справочник врача невролога Клиники ЭндоМедЛаб г. 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