We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Neurofibromatosis type I: points to be considered by general pediatricians.
- Authors
Eungu Kang; Hee Mang Yoon; Beom Hee Lee
- Abstract
Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous café-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and neoplastic manifestations. The clinical features of NF1 increase in frequency with age, while the clinical diagnosis can remain undetermined in some pediatric patients. Importantly, affected patients are at risk for developing tumors of the central and peripheral nervous system. Therefore, adequate counseling for genetic testing, age-appropriate surveillance, and management are important. This review suggests several issues that should be considered to help general pediatricians provide adequate clinical care and genetic counseling to patients with NF1 and their families.
- Subjects
NEUROFIBROMATOSIS 1; PERIPHERAL nerve tumors; CENTRAL nervous system tumors; PEDIATRICIANS; GENETIC counseling; CHILD patients
- Publication
Clinical & Experimental Pediatrics, 2021, Vol 64, Issue 4, p149
- ISSN
2713-4148
- Publication type
Article
- DOI
10.3345/cep.2020.00871