Dyskeratosis congenita presenting with dysphagia
oleh: Kalpana Gupta, Swati Tripathi, Nidheesh Agarwal, Anurag Bareth
| Format: | Article |
|---|---|
| Diterbitkan: | Wolters Kluwer Medknow Publications 2016-01-01 |
Deskripsi
Dyskeratosiscongenita (DKC) is a genetically heterogeneous disease of defective telomere maintenance that may demonstrate different patterns of inheritance. It is characterized by thetriad of dystrophy of the nails, leukokeratosis of the oral mucosa, and extensive net-like pigmentation of the skin. We report a case ofDKC who presented with a chief complaint of dysphagia.