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

Sobin Pant; Dibij Adhikari; Prakash Pandey; Binit Bajracharya; Rizuna Sharma

PMC · DOI:10.1002/ccr3.70697·July 28, 2025

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

Sobin Pant, Dibij Adhikari, Prakash Pandey, Binit Bajracharya, Rizuna Sharma

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TL;DR

This paper reports the first case of a rare genetic disorder in Nepal, highlighting the importance of early diagnosis to prevent serious complications.

Contribution

The first documented case of congenital insensitivity to pain with anhidrosis in Nepal is reported.

Findings

01

The case demonstrates the clinical features of anhidrosis and insensitivity to pain.

02

Early diagnosis and multidisciplinary care are emphasized to prevent severe complications.

03

Genetic testing is noted as crucial but not always feasible in resource-limited settings.

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.

Linked entities

Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.

Genes3

NTRK1 SCN9A NGF

Proteins3

Species1

Homo sapiens(human · species)

Chemicals3

uric acid iodine starch Iron

Diseases60

Congenital insensitivity to pain with anhidrosis cardiovascular instability Anhidrotic ectodermal dysplasia burns tongue and lip injuries CIPA convulsions hyperpyrexia gingival swelling sepsis iron deficiency anemia autosomal recessive disorder impaired pain perception loss of corneal hypoesthesia joint deformities sensory impairment infection ptosis abnormal movements Anhidrosis X-linked disorder Lesch-Nyhan syndrome episodic fevers gastrointestinal dysmotility swelling osteomyelitis tissue hypotrichosis FD lichenification of palms underweight irritability alopecia stunted Corneal ulcerations Diminished pain perception corneal opacities Ulcerative lesions febrile malnutrition developmental delay loss of consciousness dental abnormalities hyperuricemia febrile convulsions CIP joint or skeletal abnormalities dystrophic nails injuries fire corneal damage spasticity Charcot joints Fractures underdeveloped dental luxation dystonia hereditary pain disorders Autonomic dysfunction

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Taxonomy

TopicsHereditary Neurological Disorders · Toxin Mechanisms and Immunotoxins · Biochemical and Molecular Research