Ray Jay Gopal, Swain Niharika, Ghosh Ranjan, Pattanayak Mohanty Swetag
Department of Oral and Maxillofacial Pathology, Dr R Ahmed Dental College & Hospital, Kolkata, India.
BMJ Case Rep. 2011 Jan 11;2011:bcr0320102848. doi: 10.1136/bcr.03.2010.2848.
Dyskeratosis congenita (DC) is a rare genodermatosis characterised by a classic triad of dystrophic nails, reticular skin pigmentation and mucous membrane leukoplakic patches, which have a high rate of malignant transformation. The case report presented here deals with a sporadic case of DC without similar clinical presentation in the first-degree and second-degree relatives. Of note in this case, there was rapid malignant transformation in the non-homogeneous nodulo-speckled leukoplakic patch on the dorsum of the tongue.
先天性角化不良(DC)是一种罕见的遗传性皮肤病,其特征为典型的三联征,即甲营养不良、网状皮肤色素沉着和黏膜白斑,后者具有较高的恶变率。本文所呈现的病例报告涉及一例散发性DC病例,其一级和二级亲属中均无类似临床表现。该病例值得注意的是,舌背的非均匀性结节状斑点状白斑出现了快速恶变。