Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.
Pediatr Dermatol. 2021 May;38(3):655-658. doi: 10.1111/pde.14586. Epub 2021 Apr 19.
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.
全羧化酶合成酶缺乏症（HLCSD）是由 HLCS 的双等位基因致病性变异引起的，与喂养不良、呕吐、嗜睡、癫痫发作、威胁生命的代谢性酸中毒和高氨血症有关。HLCSD 的皮肤受累通常表现为鳞屑性、红皮病样、脂溢性皮炎样或鱼鳞样，但报道很少。我们报告了 3 名患者，包括 2 名兄弟姐妹，他们患有 HLCSD 和明显的皮肤表现，包括鱼鳞样皮炎和环状脓疱性银屑病的表现。在本报告中，我们表明，即使没有其他临床发现，持续的、无法解释的皮疹也应该引起重视，并可能需要对 HLCSD 进行检查。
