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- Title
Anhidrozisli Konjenital Ağrıya Duyarsızlık Sendromu: Bir Olgu Sunumu.
- Authors
Turan, Hakan; Beşir, Fahri Halit; Uslu, Esma; Başar, Feyza; Gün, Emrah; Geçer, Yavuz
- Abstract
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 self-destructive 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.
- Subjects
GENETIC disorder diagnosis; GENETIC disorders; NEURODEGENERATION; ANHIDROSIS; HAND; GENETIC mutation; GENETICS; DIAGNOSIS
- Publication
Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2014, Vol 8, Issue 1, p42
- ISSN
1307-7635
- Publication type
Article
- DOI
10.4274/tdd.1528