Nadir Bir Genetik Hastalık: Pakionişya Konjenita Tip 2

Yıl 2013, Cilt: 7 Sayı: 4, 193 - 195, 01.12.2013

Dilek Azkur Mustafa Erkoçoğlu Ersoy Civelek Gülen Eda Ünite Can Naci Kocabaş

Öz

Pakionişi konjenita (PK), nadir görülen kalıtsal ektodermal hastalık olup temel olarak hipertrofik tırnak distrofisi ve fokal palmoplantar keratoderma ile karakterizedir. Hastalık PK-1 ve PK-2 şeklinde keratin genindeki mutasyonlarla korelasyon gösteren iki klinik alt gruba ayrılmaktadır. Her ne kadar her iki grubun en belirgin klinik özelliği hipertrofik tırnak distrofisi olsa da, oral lökokeratozis genellikle PK-1’de görülürken, PK-2 ise sıklıkla tırnak distrofisi, yaygın steatosistoma, natal diş ve saç anomalileri ile prezente olur. Burada PK-2’nin klasik bulguları ile prezente olmuş ve ailesinde dört kuşağı etkilenmiş olan bir olgu sunulmuştur.

Anahtar Kelimeler

Çocuk, Keratin, Tırnak, Pakionişi konjenita, Palmoplantar keratoderma

A Rare Genetic Disease: Pachyonychia Congenita Type 2

Öz

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

Anahtar Kelimeler

Child, Keratin, nail, Pachyonychia congenita, Palmoplantar keratoderma

Kaynakça

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