Lanosterol synthase is required for cholesterol synthesis, and deficiencies have been associated with hypotrichosis as well as neuroectodermal syndromes including intellectual delay and epilepsy. Here, we report a case of lanosterol synthase deficiency in a 4-day-old patient who presented with alopecia and a previously unreported dermatologic manifestation of congenital localized hyperpigmentation.

中文翻译：

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羊毛甾醇合成酶基因缺陷和 Spectrin α，非红细胞 1 突变的新生儿脱发和色素沉着过度

羊毛甾醇合成酶是胆固醇合成所必需的，缺陷与毛发稀少以及神经外胚层综合征（包括智力迟缓和癫痫）有关。在这里，我们报告了一例羊毛甾醇合成酶缺乏症，该患者出生 4 天，出现脱发和先前未报告的先天性局部色素沉着过度的皮肤病学表现。