PARC综合征:皮肤异色病、脱发、缩颌和腭裂

• 作 者: 马桢林
• 出 处: 国外医学.皮肤病学分册
• 发表日期: 1991年06期
• 关键词: 皮肤异色病 PARC 舌下垂 弥慢性 父子俩 缺如 皮肤萎缩 毛细血管扩张 血缘关系 弹性网

先天性皮肤异色病又称Rothmund-Thom-son综合征,为常染色体隐性遗传.到目前为止已报道150例.本文报道的父子俩有着弥慢性脱发和先天性皮肤异色病的临床表现,与此综合征相似但又截然不同.患者为男孩,是双亲无血缘关系的第一个孩子.体检发现显著脱发,眉毛、睫毛和身体其他部位毛发缺如,颌很小而后缩.中后部腭裂,不伴舌下垂.眼、齿龈、指甲和四肢均无异常.其父健康

Congenital skin heterochromia, also known as Rothmund-Thom-son syndrome, is autosomal recessive. So far has been reported 150 cases reported in this article father and son with diffuse alopecia and congenital skin heterochromatosis clinical manifestations , Similar to this syndrome but distinctly different from the patient, a boy who is the first child of a non-kinship relationship to his parents. Physical examination revealed significant hair loss, lack of hair on the eyebrows, eyelashes and other parts of the body, Cleft palate, not accompanied by tongue drooping Eye, gums, nails and limbs were normal.