Congenital Insensitivity to Pain with Anhidrosis Syndrome: A Case Report
Küçük Resim Yok
Tarih
2014
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Galenos Yayincilik
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Pain, anhidrosis, congenital, neuropathy
Kaynak
Turk Dermatoloji Dergisi-Turkish Journal of Dermatology
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
8
Sayı
1
