Hereditary woolly hair and keratosis pilaris
Hereditary woolly hair and keratosis pilaris
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DOI：
10.1016/j.jaad.2005.01.092
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发表时间：
2006-02-01
影响因子：
13.8
通讯作者：
Sybert, VP
中科院分区：
文献类型：
--
作者：
Chien, AJ;Valentine, MC;Sybert, VP
我们描述了一个有羊毛发和红斑的家庭，跨越了四代。毛发和干性红斑都与努南综合征和心面皮肤综合征有关，这两种疾病的表型有相当大的重叠。该家系没有表现出努南综合征或氟氯化碳的任何其他特征，类似于之前描述的具有遗传性毛发的家系。毛发引起广泛的鉴别诊断，包括毛发痣和几种遗传性皮肤病。我们的报告回顾了对毛发的评估，并讨论了与这一物理发现相关的条件。
We describe a family with woolly hair and ulerythema ophryogenes spanning four generations. Both woolly hair and ulerythema ophryogenes have been associated with Noonan syndrome and cardiofaciocutaneous syndrome (CFC), two disorders with considerable phenotypic overlap. This family did not exhibit any of the other findings characteristic of either Noonan syndrome or CFC, similar to a previously described pedigree with hereditary woolly hair. Woolly hair elicits a broad differential diagnosis, including woolly hair nevus and several genodermatoses. Our report reviews the evaluation of woolly hair and discusses the conditions associated with this physical finding.