A familial case of pachyonychia congenita. | [Journal of Pakistan Association of Dermatologists • 2015]

Author(s):

1. Masuma P Bhengra: Department of Dermatology, Venereology & Leprosy, Rajendra Institute of Medical Sciences, Bariatu, Ranchi, India

2. Ranju Choudhary: Department of Dermatology, Venereology & Leprosy, Rajendra Institute of Medical Sciences, Bariatu, Ranchi, India

3. Prabhat Kumar: Department of Dermatology, Venereology & Leprosy, Rajendra Institute of Medical Sciences, Bariatu, Ranchi, India

4. Shyam Sundar Chaudhary: Department of Dermatology, Venereology & Leprosy, Rajendra Institute of Medical Sciences, Bariatu, Ranchi, India

Abstract:

Pachyonychia congenita (PC) comprises a group of rare autosomal genodermatosis caused by mutation in any of the four genes KRT6A, KRT6B, KRT16 or KRT17. Classically, it is subdivided into two major variant types, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome). We hereby report a case of 22-year-old, married woman with progressive thickening and discoloration of all 20 nails, multiple, hyperkeratotic lesions present all over the body with oral lesions since childhood. She had a 2-month-old male baby (the only child) who presented with similar lesions of yellowish discoloration and nail thickening of both nails and foot since birth. She was diagnosed as PC type 1

Page(s): 62-65

DOI: DOI not available

Published: Journal: Journal of Pakistan Association of Dermatologists, Volume: 25, Issue: 1, Year: 2015

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