Ortonne J P, Juhlin L, el Baze P, Pautrat G
Acta Derm Venereol. 1985;65(3):250-4.
A 59-year-old man with palmoplantar keratoderma and rolled spiral hairs on the abdomen and extremities is reported. His father had the same skin manifestations but his brother and sister only keratoderma palmoplantare. Scanning electron microscopy of the rolled hairs showed that they were coiled in a spiral around their own axis. These spiral hairs had lower cysteine than the normal appearing hairs on the body. The scalp hair appeared normal but was low in cysteine which was compensated by an increase in threonine. Urine analysis showed a decrease of cysteine.
报告了一名59岁男性，其患有掌跖角化病，腹部和四肢有卷曲的螺旋状毛发。他的父亲有相同的皮肤表现，但他的兄弟姐妹只有掌跖角化症。对卷曲毛发进行扫描电子显微镜检查显示，它们围绕自身轴呈螺旋状盘绕。这些螺旋状毛发的半胱氨酸含量低于身体上外观正常的毛发。头皮毛发外观正常，但半胱氨酸含量较低，这由苏氨酸增加得到补偿。尿液分析显示半胱氨酸减少。
