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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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 May 25];7(4):193-5. Available from: https://turkjpediatrdis.org/article/view/213