Forni G L, Melevendi C, Jappelli S, Rasore-Quartino A
Divisione di Pediatria, Ospedali Galliera, Genova, Italy.
Pediatr Hematol Oncol. 1993 Apr-Jun;10(2):145-9. doi: 10.3109/08880019309016548.
We report on a family in which one member is affected by dyskeratosis congenita (DC), who had two cousins who died at 44 months and 36 months, respectively, with aplastic anemia and neurological abnormalities. The patient affected by DC presented with bone marrow hypoplasia at age 4; DC was diagnosed at age 6. In DC the marrow abnormalities rarely appear before the skin manifestations. The observation of this kindred poses the question whether an extremely early onset with a rapidly fatal course before the appearance of skin abnormalities is possible. We believe this report to be important for the differential diagnosis of DC and other forms of congenital aplastic anemia.
我们报告了一个家族，其中一名成员患有先天性角化不良（DC），他有两个表亲分别在44个月和36个月时死于再生障碍性贫血和神经异常。患有DC的患者在4岁时出现骨髓发育不全；6岁时被诊断为DC。在DC中，骨髓异常很少在皮肤表现之前出现。对这个家族的观察提出了一个问题，即在皮肤异常出现之前是否可能有极早的发病并伴有迅速致命的病程。我们认为这份报告对于DC和其他形式的先天性再生障碍性贫血的鉴别诊断很重要。
