Abstract

Pachyonychia congenita (PC) is a rare inherited ectodermal disorder characterized mainly by hypertrophic nail dystrophy and focal palmoplantar keratoderma. Pachyonychia congenita can be divided into two main clinical subtypes, PC-1 and PC-2, which are correlated with mutations in keratins. Although the most prominent clinical feature of both PC subtypes is hypertrophic nail dystrophy, oral leukokeratosis is usually seen in PC-1 while PC-2 generally presents with nail dystrophy, widespread steatocystomas, natal teeth and hair abnormalities. We report a patient with PC type II presenting with the classical features of the disease that had been transmitted for four generations

Keywords: Child, Keratin, nail, Pachyonychia congenita, Palmoplantar keratoderma

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Copyright and license

Copyright © 2013 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Azkur D, Erkoçoğlu M, Civelek E, Ünite GE, Kocabaş CN. A Rare Genetic Disease: Pachyonychia Congenita Type 2. Turk J Pediatr Dis [Internet]. 2013 Dec. 1 [cited 2025 Aug. 23];7(4):193-5. Available from: https://turkjpediatrdis.org/article/view/213