Sharma Reena Kumari, Gupta Mudita, Sood Samriti, Gupta Archit
Department of Dermatology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.
Department of Surgery, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.
BMJ Case Rep. 2018 Nov 28;11(1):e226736. doi: 10.1136/bcr-2018-226736.
Dyskeratosis congenita (DKC) also known as Zinsser-Cole-Engman syndrome is a progressive genetic disease with a classical presentation characterised by a triad of reticulate pigmentation of skin, nail dystrophy and leukoplakia. It may be a multisystem disease with the involvement of haematological, gastrointestinal, genitourinary, neurological, ophthalmic, pulmonary and skeletal system. We report a sporadic case of DKC presenting with poikiloderma, nail dystrophy and oral leukoplakia.
先天性角化不良（DKC），也称为津瑟-科尔-恩格曼综合征，是一种进行性遗传病，典型表现为皮肤网状色素沉着、指甲营养不良和黏膜白斑三联征。它可能是一种多系统疾病，累及血液、胃肠、泌尿生殖、神经、眼科、肺和骨骼系统。我们报告一例散发的先天性角化不良病例，表现为皮肤异色症、指甲营养不良和口腔黏膜白斑。
