Buchukuri Irma, Chalatashvili Giorgi, Gotua Maia, Robakidze Kakhaber, Khutsishvili Nino, Lortkipanidze Nino
Department of Dermatology and Venereology, Petre Shotadze Tbilisi Medical Academy, Tbilisi, Georgia.
Department of Dermatology, MediClubGeorgia, Tbilisi, Georgia.
Am J Case Rep. 2025 Apr 29;26:e946411. doi: 10.12659/AJCR.946411.
BACKGROUND Netherton syndrome is an autosomal recessive skin disorder usually diagnosed in infancy and is characterized by ichthyosis, erythroderma, atopy, and characteristic beading of the hair shaft (trichorrhexis invaginata). Secukinumab, a monoclonal antibody that inhibits interleukin-17, has recently been reported to be effective in patients with refractory Netherton syndrome. The present report describes a 20-year-old man with a chronic history of refractory Netherton syndrome who responded to treatment with secukinumab. CASE REPORT A 20-year-old male patient presented with generalized pruritus, erythema, and scaling. The patient was previously diagnosed with atopic dermatitis and had been treated with systemic corticosteroids and omalizumab, without improvement. Later, the patient was referred to us. Physical examination showed generalized erythroderma and polycyclic and serpiginous erythematous plaques with double-edged scales at the margins. Trichoscopy of the scalp revealed a hair shaft abnormality, specifically trichorrhexis invaginata. The blood tests demonstrated elevated IgE levels. Initially, the patient was started on topical corticosteroids, which caused the condition to deteriorate. As the patient did not respond to the treatment, a decision was made to start secukinumab monotherapy. After 2 injections, the patient's condition markedly improved and the effect after the last injection was maintained for 4-5 months. CONCLUSIONS Netherton syndrome is a rare and often misdiagnosed hereditary diseases in dermatology. For this reason, the management strategies of the disease are variable and without consensus. In our case, considering the pathogenesis of the disease, we used secukinumab, which has shown promising results and good tolerability. Further studies are required to establish the efficacy of the drug.
Netherton综合征是一种常染色体隐性遗传性皮肤病,通常在婴儿期被诊断出来,其特征为鱼鳞病、红皮病、特应性体质以及特征性的毛发干珠状改变(套叠性脆发症)。司库奇尤单抗是一种抑制白细胞介素-17的单克隆抗体,最近有报道称其对难治性Netherton综合征患者有效。本报告描述了一名患有慢性难治性Netherton综合征病史的20岁男性,他对司库奇尤单抗治疗有反应。病例报告:一名20岁男性患者出现全身瘙痒、红斑和脱屑。该患者先前被诊断为特应性皮炎,曾接受全身用皮质类固醇和奥马珠单抗治疗,但无改善。后来,该患者转诊至我们科室。体格检查显示全身红皮病以及边缘有双边鳞屑的多环状和匐行性红斑斑块。头皮毛发镜检查显示毛发干异常,具体为套叠性脆发症。血液检查显示IgE水平升高。最初,患者开始使用外用皮质类固醇,这导致病情恶化。由于患者对治疗无反应,决定开始司库奇尤单抗单药治疗。注射2次后,患者病情明显改善,最后一次注射后的效果维持了4至5个月。结论:Netherton综合征是皮肤科一种罕见且常被误诊的遗传性疾病。因此,该疾病的管理策略各不相同且未达成共识。在我们的病例中,考虑到疾病的发病机制,我们使用了司库奇尤单抗,其已显示出有前景的结果和良好的耐受性。需要进一步研究来确定该药物的疗效。