先天性角化不良是罕见多系统疾病,女性患者尤其少见。据Ling 等1985年统计国外仅报告18例女患者。本例是国内首例散发的女性病例。作者认为,此种患者可能与常染色体隐性遗传有关。该患者除存有严重的再生障碍性贫血外,尚存有性器官发育不良、肾上腺及甲状腺功能减退、心肌损害和抗心肌抗体阳性。这种多内分泌腺异常和心肌损 Congenital keratosis is a rare multi-system disease, especially in women, rare. According to Ling et al 1985 statistics only 18 cases of female patients were reported abroad. This case is the first female case distributed in China. The authors believe that such patients may be associated with autosomal recessive. In addition to patients with severe aplastic anemia, there are still cases of sexual dysplasia, adrenal and hypothyroidism, myocardial damage and anti-myocardial antibody-positive. This multi-endocrine abnormalities and myocardial damage