Reichel M, Grix A C, Isseroff R R
Department of Dermatology, University of California, School of Medicine, Davis 95616.
Pediatr Dermatol. 1992 Jun;9(2):103-6. doi: 10.1111/j.1525-1470.1992.tb01223.x.
An 11-year-old boy had dyskeratosis congenita, elevated fetal hemoglobin level, X-linked ocular albinism, and juvenile-onset diabetes mellitus. A review of the international literature revealed that elevated fetal hemoglobin has been noted in 15 reported cases of dyskeratosis congenita. It is a previously unrecognized, commonly associated finding in dyskeratosis congenita that may provide insight into the location and function of the gene for dyskeratosis congenita.
一名11岁男孩患有先天性角化不良、胎儿血红蛋白水平升高、X连锁眼部白化病和青少年型糖尿病。对国际文献的回顾显示，在15例已报道的先天性角化不良病例中发现了胎儿血红蛋白水平升高。这是先天性角化不良中一个以前未被认识到的常见相关发现，可能有助于深入了解先天性角化不良基因的位置和功能。
