Bradshaw K D, Carr B R
Obstet Gynecol Surv. 1986 Jul;41(7):401-13.
PSD-X-linked ichthyosis are manifestations of a similar disorder of an inborn error of metabolism characterized by a deficiency of steroid sulfatase. The decreased enzyme activity is due to the absence of the expression of enzyme (steroid sulfatase) protein. Affected individuals with this disorder are males (X-linked inheritance) with a frequency of 1/2000 to 1/6000 births. Homozygous females from cosanguineous marriages have been reported with this disorder. The diagnosis is suspected and confirmed by: Low estriol excretion; Negative DHEAS loading test Increased DHEAS in amnionic fluid; Normal DHEAS in cord plasma; Possible delayed or abnormal labor patterns; Decreased sulfatase activity in the placenta, fibroblast, erythrocytes, lymphocytes or leukocytes of affected individuals; Development of ichthyosis in male infants at 2 to 3 months of age.
X连锁鱼鳞病相关的点状掌跖角化病是一种先天性代谢缺陷的类似病症的表现，其特征为类固醇硫酸酯酶缺乏。酶活性降低是由于酶（类固醇硫酸酯酶）蛋白表达缺失所致。患有这种疾病的个体为男性（X连锁遗传），出生频率为1/2000至1/6000。据报道，近亲结婚的纯合子女性也患有这种疾病。通过以下方式怀疑并确诊该疾病：雌三醇排泄量低；硫酸脱氢表雄酮负荷试验阴性；羊水中硫酸脱氢表雄酮增加；脐血血浆中硫酸脱氢表雄酮正常；可能出现产程延迟或异常；患病个体的胎盘、成纤维细胞、红细胞、淋巴细胞或白细胞中硫酸酯酶活性降低；男婴在2至3个月大时出现鱼鳞病。
