Gupta Kalpana, Tripathi Swati, Agarwal Nidheesh, Bareth Anurag
Department of Dermatology, Venereology and Leprosy, Geetanjali Medical College and Hospital, Udaipur, Rajasthan, India.
Indian Dermatol Online J. 2016 Jul-Aug;7(4):275-7. doi: 10.4103/2229-5178.185461.
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.
先天性角化不良（DKC）是一种端粒维持缺陷的遗传性异质性疾病，可能表现出不同的遗传模式。其特征为指甲营养不良、口腔黏膜白色角化病和皮肤广泛的网状色素沉着三联征。我们报告一例以吞咽困难为主诉的先天性角化不良患者。
