Anhidrozisli Konjenital Ağrıya Duyarsızlık Sendromu: Bir Olgu Sunumu

Congenital Insensitivity to Pain with Anhidrosis syndrome is a rare, autosomal recessively inherited syndrome caused by neurotrophic tyrosine receptor kinase 1 gene mutation. The basic findings of the syndrome are absence of pain sense, anhidrosis, and selfdestructive behaviors. Herein, we describe a 4-year-old boy presented with xerosis, anhidrosis, and traumatic lesions on the hands and diagnosed as Congenital Insensitivity to Pain with Anhidrosis syndrome. On the occasion of this case, we aimed to review general and dermatological characteristics of this rare syndrome.\u