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Comment & Response
December 2015

Identification of a CAST Mutation in a Cohort Previously Misdiagnosed as Having Autosomal Recessive Pachyonychia Congenita

Author Affiliations
  • 1Division of Dermatology, Department of Medicine, University of Calgary, Calgary, Alberta, Canada
  • 2Ontario Forensic Pathology Service, Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

Copyright 2015 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA Dermatol. 2015;151(12):1393-1394. doi:10.1001/jamadermatol.2015.2810

To the Editor This letter corrects our diagnosis from 1986, documents the CAST mutation in our patients from that time, and adds to the list of genodermatoses that may mimic pachyonychia congenita (PC).

The gold standard for diagnosis of genetic skin diseases is the demonstration of the causative gene mutation. The dominantly inherited genodermatosis PC is caused by a mutation in K6a, K6b, K6c, K16, or K17.1 Pachyonychia congenita can be clinically misdiagnosed, with reports of Clouston syndrome mimicking PC, and the correct diagnosis can only be made by gene mutational analysis.2

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