PDF(Pubmed)
Abstract：
Harlequin ichthyosis (HI) is a rare, life-threatening genodermatosis that is characterized by thick, scaly, hyperkeratotic plaques throughout the skin and is typically associated with severe ectropion, eclabium, flexion contractures, and dysplastic ears. HI is thought to be caused by a loss-of-function mutation in the ABCA12 gene. It has traditionally been thought to be difficult to treat, as there are currently no treatments available that are approved by the Food and Drug Administration (FDA). We present a case of a 15-year-old boy with HI and a complex medical history who was treated with a trial of off-label ustekinumab. There was an initial mild improvement in his erythema within one month of treatment, but by his one-year follow-up, ustekinumab had failed to produce a significant treatment response and was, thus, discontinued from his regimen. This case report highlights that although ustekinumab may be a viable treatment option for other ichthyotic entities, more research is needed to evaluate its clinical safety and efficacy in treating pediatric patients with HI.
摘要：
丑角鱼鳞病（HI）是一种罕见的，威胁生命的遗传性皮肤病，其特征是厚，鳞状,整个皮肤角化过度斑块，通常与严重的外翻有关，eclabium,屈曲挛缩,和发育不良的耳朵。HI被认为是由ABCA12基因中的功能丧失突变引起的。传统上认为很难治疗，因为目前没有食品和药物管理局（FDA）批准的治疗方法。我们介绍了一例患有HI和复杂病史的15岁男孩，他接受了标签外ustekinumab的试验。在治疗后的一个月内，他的红斑有了初步的轻微改善，但通过他一年的随访,ustekinumab未能产生显著的治疗反应，因此，停止了他的治疗方案。本病例报告强调，尽管ustekinumab可能是其他鱼类实体的可行治疗选择，需要更多的研究来评估其治疗HI儿科患者的临床安全性和有效性.
