We're unable to sign you in at this time. Please try again in a few minutes.
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Comment & Response |

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

Richard M. Haber, MD, FRCPC1; Toby H. Rose, MD,, FRCPC2
[+] 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
JAMA Dermatol. 2015;151(12):1393-1394. doi:10.1001/jamadermatol.2015.2810.
Text Size: A A A
Published online


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


Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

First Page Preview

View Large
First page PDF preview





Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.


Some tools below are only available to our subscribers or users with an online account.

0 Citations

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

Customize your page view by dragging & repositioning the boxes below.