골형성부전증이 동반된 신경섬유종증 1례

A Case of Neurofibromatosis Type I with Osteog enesis Imperfecta Type I

저자들은 유전성 질환으로 제 1형 신경섬유종증과 제 1형 골형성부전증을 동반하며 각각의 질환에서 모두 가족력을 보이는 환아를 경험하였기에 보고하는 바이다.

Neurofibromatosis type I is one of the most common autosomal dominant disorders, characterized by cafe au-lait spots, axillary freckling, Lisch nodules in the iris, multiple neurofibromas and the bone involvement with pseudoarthrosis, and the bowing of long bones. Also, osteogenesis imperfecta type I is one of the common disorders of connective tissues with autosomal dominant inheritance, characterized by osteoporosis, osseous fragility with multiple fractures, blue sclerae, deafness and imperfect dentinogenesis. Although both diseases have autosomal dominant inheritance, there have been no reports of patients with combined diseases. This case is to represent a patient of ostogenesis imperfecta type I and neurofibromatosis type I combined with familial inheritance referring to medical documents.