16 Yaşında Bir Erkek Olguda Pakionişi Konjenita\'nın Klinik Bulguları

Abstract Clinical Manifestations of Pachyonychia Congenita in a 16 Year Old Boy Pachyonychia congenita is an autosomal dominant syndrome with the hallmark findings of dystrophic fingernails and toenails, palmoplantar keratosis and hyperhidrosis, oral leukokeratosis and follicular keratosis. Dystrophic finger and toe nails are present at birth. However, clinical findings such as oral leukokeratosis, palmoplantar keratosis and folicular keratosis appear at later stages. The disease, which is transmitted as an autosomal dominant trait, has medical consequences such as hoarsening of voice and dysfagia due to eusophagial and posterior comissural involvement of larynx other than the obvious cosmetic consequences. In this case study, a 16 year old boy with the typical findings of the syndrome such as dystrophic hand and finger nails, oral leukokeratosis and folicular keratosis will be discussed.