Nail Changes in Congenital Insensitivity to Pain with Anhidrosis: A Case Report
Year: 2026
Type: article
Study design: Case Report
Abstract: Introduction: Nail changes often reflect underlying systemic disease and may be the presenting manifestation of rare genetic disorders. Here, we report 2 siblings with congenital insensitivity to pain with anhidrosis (CIPA) with prominent nail findings. Case Report: We report two brothers who presented with prominent nail abnormalities including dystrophy, brachyonychia, anonychia, paronychia, and pseudo-clubbing, along with acro-osteolysis of distal phalanges. Subsequent evaluation revealed insensitivity to pain and temperature, intellectual disability, recurrent fractures, self-mutilation, and anhidrosis, leading to a diagnosis of CIPA. Genetic analysis confirmed a novel homozygous NTRK1 gene deletion. Conclusion: This report highlights the importance of nail manifestations as potential diagnostic indicators of CIPA.
Source: Skin Appendage Disorders
DOI: 10.1159/000551554
Authors: Aysha Najeeb, Vishal Gaurav, Kaushal K. Verma
Institution: All India Institute of Medical Sciences
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7140160790