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Abstract：
Holocarboxylase deficiency (HLCSD) is caused by biallelic pathogenic variants in HLCS and is associated with poor feeding, emesis, lethargy, seizures, life-threatening metabolic acidosis, and hyperammonemia. Skin involvement in HLCSD is typically described as scaly, erythrodermic, seborrhea-like, or ichthyosiform, but there is a paucity of reports. We report three patients, including two siblings, with HLCSD and significant cutaneous manifestations including ichthyosiform dermatitis and a presentation with features of annular pustular psoriasis. In this report, we show that persistent, unexplained rash, even in the absence of other clinical findings, should warrant consideration and potential workup for HLCSD.
摘要：
全羧化酶缺乏症（HLCSD）是由HLCS中的双等位基因致病变体引起的，并且与喂养不良有关。呕吐,嗜睡,癫痫发作,威胁生命的代谢性酸中毒,和高氨血症。HLCSD的皮肤受累通常被描述为鳞状，红皮病,皮脂溢出样，或者鱼鳞状，但是报告很少。我们报告了三个病人,包括两个兄弟姐妹,伴有HLCSD和明显的皮肤表现，包括鱼鳞病样皮炎和具有环状脓疱型银屑病特征的表现。在这份报告中,我们展示了持久的，无法解释的皮疹,即使没有其他临床发现，应保证对HLCSD的考虑和潜在的工作。
