Almuhanna Nouf, Alasmari Bushra S, Alhamazani Rasha, Alkhezzi Sarah, Alhomida Faris A
Dermatology, King Fahad Medical City, Riyadh, SAU.
Cureus. 2023 Apr 16;15(4):e37654. doi: 10.7759/cureus.37654. eCollection 2023 Apr.
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.
丑角样鱼鳞病（HI）是一种罕见的、危及生命的遗传性皮肤病，其特征是全身皮肤出现厚的、鳞状、角化过度的斑块，通常伴有严重的睑外翻、唇外翻、屈曲挛缩和发育不良的耳朵。HI被认为是由ABCA12基因的功能丧失突变引起的。传统上认为它难以治疗，因为目前没有获得美国食品药品监督管理局（FDA）批准的治疗方法。我们报告一例15岁患有HI且有复杂病史的男孩，他接受了标签外使用乌司奴单抗的试验性治疗。治疗后一个月内，他的红斑最初有轻度改善，但在一年的随访中，乌司奴单抗未能产生显著的治疗反应，因此从他的治疗方案中停用。本病例报告强调，尽管乌司奴单抗可能是其他鱼鳞病实体的可行治疗选择，但需要更多研究来评估其治疗儿童HI患者的临床安全性和疗效。
