Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal

ABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in re...

Full description

Saved in:
Bibliographic Details
Main Authors: Sobin Pant, Dibij Adhikari, Prakash Pandey, Binit Bajracharya, Rizuna Sharma
Format: Article
Language:English
Published: Wiley 2025-08-01
Series:Clinical Case Reports
Subjects:
Online Access:https://doi.org/10.1002/ccr3.70697
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:ABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings. Early diagnosis and a multidisciplinary approach help prevent complications like severe injuries, infections, and hyperpyrexia.
ISSN:2050-0904