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Published on: April 29, 2013
Nail Changes in Congenital Insensitivity to Pain with Anhidrosis: A Case Report
Aysha Najeeb1, Vishal Gaurav1, Kaushal K Verma1
1Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.
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.
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