Abstract
Aims: Neurofibromatosis type 1 (NF1) is a frequent genetic disease caused by NF1 mutations at 17q11.2. NF1 is mainly diagnosed based on clinical findings as NF1 mutational analysis is time consuming and does not offer a 100% detection rate. Clinical diagnosis is possible in the majority of affected children until the age of 6 years. However, at the age of 1 year or less, a definite diagnosis is impossible in 30% of patients. Therefore, it is important to define additional clinical findings that facilitate clinical diagnosis. We observed that nevi anemic (NA) occur with increased frequency in NF1 patients. These congenital cutaneous anomalies are characterized by palor and sharp margins and do not require therapy. Melanocyte function and skin sensitivity are normal. This study will establish the frequency of NA in children with possible NF1 to characterize NA as additional diagnostic criterion.
Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
