Jacobs P, Saxe N, Gordon W, Nelson M
Scand J Haematol. 1984 May;32(5):461-8. doi: 10.1111/j.1600-0609.1984.tb02186.x.
In a family of 5 boys and 6 girls, 3 brothers have clinical dyskeratosis congenita. Teeth from 2 of the patients were taurodent , and mineral density of the enamel was significantly different from normal. The haematopoietic marrow was hypocellular and there was striking prominence of plasma cells having normal morphology; no granulomata were demonstrated. The decreased erythroid precursors in the marrow correlated with quantitatively reduced erythropoiesis demonstrated on ferrokinetic studies. Recurrent infections occurred but could not be related to neutropenia, and granulocytes and monocytes retained normal function. No abnormality was demonstrated in humoral or cellular immune mechanisms. While superficially similar, dyskeratosis congenita and Fanconi's anaemia are genetically distinct, being X-linked in the former and inherited as an autosomal recessive in the latter.
在一个有5个男孩和6个女孩的家庭中，3个兄弟患有先天性角化不良。2名患者的牙齿呈牛牙样，牙釉质矿物质密度与正常情况有显著差异。造血骨髓细胞减少，形态正常的浆细胞显著增多；未发现肉芽肿。骨髓中红系前体细胞减少与铁动力学研究显示的红细胞生成量减少相关。反复发生感染，但与中性粒细胞减少无关，粒细胞和单核细胞功能正常。体液免疫或细胞免疫机制未发现异常。虽然先天性角化不良和范科尼贫血表面上相似，但在遗传上是不同的，前者为X连锁，后者为常染色体隐性遗传。
