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첫 증상으로 다발성의 피부 얼기모양 신경초종을 보인 신경섬유종증 2형 1예

Multiple Cutaneous Plexiform Schwannomas as the First Symptom of Neurofibromatosis Type 2

대한피부과학회지 2020년 58권 4호 p.260 ~ 264
이민영, 이지범, 이승철, 원영호, 윤숙정,
소속 상세정보
이민영 ( Lee Min-Young ) - Chonnam National University Medical School Department of Dermatology
이지범 ( Lee Jee-Bum ) - Chonnam National University Medical School Department of Dermatology
이승철 ( Lee Seung-Chul ) - Chonnam National University Medical School Department of Dermatology
원영호 ( Won Young-Ho ) - Chonnam National University Medical School Department of Dermatology
윤숙정 ( Yun Sook-Jung ) - Chonnam National University Medical School Department of Dermatology

Abstract


Neurofibromatosis type 2 is a rare autosomal dominant disease. Vestibular schwannoma, which causes hearing loss, tinnitus, and imbalance, is the hallmark of the disease and is often the first symptom of neurofibromatosis type 2.
Interestingly, children with neurofibromatosis type 2 can present with skin and central nervous system tumors other than vestibular schwannoma. A 10-year-old boy visited our clinic with multiple skin tumors that had been present since he was 1-year-old. Initially, his features did not fulfill the diagnostic criteria of neurofibromatosis type 2, but brain tumors subsequently developed within 2 years. Here, we report a case of neurofibromatosis type 2, that initially presented with multiple cutaneous plexiform schwannomas.

키워드

Neurofibromatosis type 2; Plexiform schwannoma

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