Okanishi Tohru, Fujimoto Ayataka, Enoki Hideo, Ogai Masaaki
Tuberous Sclerosis Complex Board, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.
Department of Child Neurology, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.
Front Med (Lausanne). 2020 Jan 22;7:1. doi: 10.3389/fmed.2020.00001. eCollection 2020.
Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder. Angiofibromas (AF), fibrous plaques, and hypopigmented macules are the major skin findings in TSC. Topical sirolimus reduces the volume and redness of AF and other skin findings. However, the efficacy of early intervention and long-term treatment remains to be clarified. We investigated the efficacy of sirolimus gel for AF in children with TSC. We recruited nine children (five boys; four girls) with TSC and AF. We used 0.2% sirolimus gel over 6 months. We reviewed each patient's medical records and photographs for clinical information and data related to improvements in skin lesions. We evaluated the size of AF, fibrous plaques, and color changes in AF and hypopigmented macules. Age at the initiation of treatment ranged from 3.5 to 11.0 years. The follow-up period ranged from 6 to 36 months (≥24 months in 3 children). Patients presented with papular AF (9), miliary AF (8), AF redness (9), fibrous plaques (5), and hypopigmented macules (2). After 6 months of treatment, improvement of AF size and redness was seen in all nine patients. Patients treated for ≥24 months showed significant decrease in AF size that persisted until the final follow-up. Gradual improvement in fibrous plaques was observed, and marked reduction in size was achieved by 4-18 months. Early sirolimus gel intervention is effective for the treatment of AF and fibrous plaques in children with TSC. Early intervention with sirolimus gel may maintain the skin at near-normal levels in patients with TSC.
结节性硬化症（TSC）是一种多系统神经皮肤疾病。血管纤维瘤（AF）、纤维斑块和色素减退斑是TSC的主要皮肤表现。外用西罗莫司可减小AF的体积并减轻其红肿以及其他皮肤表现。然而，早期干预和长期治疗的疗效仍有待明确。我们研究了西罗莫司凝胶对TSC患儿AF的疗效。我们招募了9名患有TSC和AF的儿童（5名男孩；4名女孩）。我们使用0.2%的西罗莫司凝胶治疗6个月。我们查阅了每位患者的病历和照片，以获取与皮肤病变改善相关的临床信息和数据。我们评估了AF的大小、纤维斑块以及AF和色素减退斑的颜色变化。开始治疗时的年龄范围为3.5至11.0岁。随访期为6至36个月（3名儿童≥24个月）。患者出现丘疹性AF（9例）、粟粒性AF（8例）、AF红肿（9例）、纤维斑块（5例）和色素减退斑（2例）。治疗6个月后，所有9名患者的AF大小和红肿均有改善。治疗≥24个月的患者AF大小显著减小，直至最后一次随访仍持续存在。观察到纤维斑块逐渐改善，4至18个月时大小显著减小。早期西罗莫司凝胶干预对治疗TSC患儿的AF和纤维斑块有效。早期使用西罗莫司凝胶干预可能使TSC患者的皮肤维持在接近正常的水平。
