Herges A, Stieler W, Stadler R
Hautklinik Klinikum Minden.
Hautarzt. 1993 Jun;44(6):385-91.
The Bazex-Dupré-Christol syndrome (BDC syndrome) was first described in 1964. Only 14 affected families and 47 patients with this very rare dominant genodermatosis have been reported so far. The three main features of BDC syndrome are (1) follicular atrophoderma, especially on the dorsum of hands and feet, (2) multiple basal cell carcinomas of the face, occurring mainly during the second decade of life, reflecting the clinical relevance of BDC syndrome and (3) congenital generalized hypotrichosis, sometimes with pili torti and trichorrhexis nodosa. The expressivity of the main features varies. Common associated symptoms are milia, calcifying epithelial tumours and hypohidrosis. We present three members of one family with BDC syndrome, a mother and her two sons. In the mother and one son the clinical picture is very typical with all major features, whereas in the other son only follicular atrophoderma and hypotrichosis are present.
巴泽克斯-迪普雷-克里斯托尔综合征(BDC综合征)于1964年首次被描述。迄今为止,仅报道了14个患病家庭以及47例患有这种极为罕见的显性遗传性皮肤病的患者。BDC综合征的三个主要特征为:(1)毛囊性皮肤萎缩,尤其是在手背和足背;(2)面部多发性基底细胞癌,主要发生在生命的第二个十年,这反映了BDC综合征的临床相关性;(3)先天性全身性毛发稀少,有时伴有扭曲发和结节性脆发。主要特征的表现度有所不同。常见的相关症状有粟丘疹、钙化上皮瘤和少汗症。我们展示了一个患有BDC综合征家庭的三名成员,一位母亲和她的两个儿子。母亲和其中一个儿子的临床表现非常典型,具备所有主要特征,而另一个儿子仅存在毛囊性皮肤萎缩和毛发稀少。