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

Referanslar

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Telif hakkı ve lisans

Nasıl atıf yapılır

1.
Azkur D, Erkoçoğlu M, Civelek E, Ünite GE, Kocabaş CN. Nadir Bir Genetik Hastalık: Pakionişya Konjenita Tip 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