Loh H S, Koh M L, Giam Y C
Faculty of Dentistry, National University of Singapore, Kent Ridge.
Br J Oral Maxillofac Surg. 1987 Dec;25(6):492-9. doi: 10.1016/0266-4356(87)90142-2.
Dyskeratosis congenita is reported in two male Singaporean Chinese cousins. The family pedigree is presented. Lichen planus or lichenoid lesions, instead of leukoplakia, was the manifestation in the oral cavity. The mode of inheritance and the differential diagnosis of Fanconi's anaemia are discussed. Dental findings are emphasised as such information is lacking in previously reported cases. One of the subjects expired of aplastic anaemia, which together with oral malignancy, is one fatal complication of this disease.
两名新加坡华裔男性表亲被报道患有先天性角化不良。文中展示了家族谱系。口腔表现为扁平苔藓或苔藓样病变，而非白斑。文中讨论了范可尼贫血的遗传方式及鉴别诊断。鉴于此前报道的病例缺乏相关信息，故着重强调了牙齿方面的发现。其中一名患者死于再生障碍性贫血，再生障碍性贫血与口腔恶性肿瘤都是该疾病的致命并发症。
