A familial case of pachyonychia congenita

Authors

  • Masuma P Bhengra
  • Ranju Choudhary
  • Prabhat Kumar
  • Shyam Sundar Chaudhary

DOI:

https://doi.org/10.66344/jpad.25.1.2015.133

Keywords:

Hyperkeratotic lesions, oral lesions, nails, pachyonychia congenita

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.

References

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Published

2016-11-22

How to Cite

1.
Bhengra MP, Choudhary R, Kumar P, Chaudhary SS. A familial case of pachyonychia congenita. J Pak Assoc Dermatol [Internet]. 2016Nov.22 [cited 2026Apr.12];25(1):62-5. Available from: https://www.jpad.com.pk/index.php/jpad/article/view/133

Issue

Vol. 25 No. 1 (2015): January - March

Section

Case Reports

License

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Authors retain the copyright to their work and grant the 'Journal of Pakistan Association of Dermatologists (JPAD)' the right of first publication under a Creative Commons Attribution 4.0 International (CC BY 4.0) license. This license allows others to share, adapt, and reuse the work for any purpose, including commercial use, as long as appropriate credit is given to the original authors and the journal.

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