目的 通过报道1例刀砍样线状硬皮病患者的临床特点及诊治经过，并进行相关文献回顾，旨在为刀砍样线状硬皮病的早期诊断及治疗提供依据。 方法 总结2022年9月22日就诊于杭州市中医院的1例刀砍样线状硬皮病患者的临床资料和诊治过程，同时系统性分析国内外与刀砍样线状硬皮病伴癫痫发作或类Coats样表现相关的病例报道或病例系列研究，总结该类型患者的性别、年龄、发病时间、临床表现、治疗及预后等情况。 结果 本例患者为22岁女性，有头皮斑片样脱发和同侧额部刀砍样皮损病史10余年，5年前因右眼视力下降诊断为Coats病，现已失明。本次因“发作性意识丧失2 h余”就诊。患者入院时伴有癫痫样发作及左眼类Coats样表现，接受抗癫痫药物、糖皮质激素、免疫抑制剂治疗，效果尚可。分析国内外文献报道的全部20例刀砍样线状硬皮病患者的临床资料，其发病年龄为11。00（6。75，20。50）岁，男女比例为1∶1，刀砍样线状硬皮病伴癫痫发作患者的影像学结果多表现为病灶侧颅内多发钙化灶、病灶侧软组织萎缩、颅骨变薄。刀砍样线状硬皮病伴Coats样表现患者眼底及荧光素血管造影检查主要表现为渗出性炎症、视网膜脱离，其中1例患者的头颅影像学提示脑血管炎。对刀砍样线状硬皮病伴癫痫发作患者多予抗癫痫药物、激素联合免疫抑制剂、白细胞介素6抑制剂托珠单抗等药物治疗，也有患者予手术治疗。刀砍样线状硬皮病伴类Coats样表现患者多予玻璃体内贝伐珠单抗治疗，同时联合激素及免疫抑制剂治疗或视网膜靶向光凝治疗或局部激光和曲安奈德治疗。上述治疗可以有效控制患者的难治性癫痫，改善患者的视力下降。 结论 刀砍样线状硬皮病主要表现为眼睑以上额面部刀砍样皮损伴色素沉着，可伴有眼部类Coats样表现、癫痫发作及颅内影像学异常，上述临床特征可先后出现，也可同时出现，严重时可导致失明及难治性癫痫。应尽早予激素联合免疫抑制剂治疗，玻璃体内贝伐单抗治疗可以改善患者的视力下降。 Objective To report the clinical characteristics， diagnosis and treatment of a patient with linear scleroderma en coup de sabre (LSCS)， and review the relevant literature in order to provide the basis for early diagnosis and timely treatment of the disease。 Methods The clinical data and treatment process of a patient with LSCS admitted to Hangzhou Traditional Chinese Medicine Hospital Affiliated to Zhejiang Chinese Medical University on September 22， 2022 were summarized， and the case reports or case series studies related to LSCS with epilepsy or Coats-like response at home and abroad were systematically analyzed。 The gender， age， onset time， clinical manifestations， treatment and prognosis of this type of patients were summarized。 Results The patient is a 22 years old female with a history of scalp patchy alopecia and ipsilofrontal en coup de sabre for over 10 years and was diagnosed as Coasts disease due to decreased vision in the right eye 5 years ago， and now she is blind。 This visit was due to "episodic loss of consciousness for more than 2 hours" with epileptic seizures and Coats-like response of the left eye。 Treatment with antiepileptic drugs， glucocorticoids and immunosuppressants showed satisfactory results。 The clinical data of all 20 patients with LSCS reported in domestic and foreign literature were analyzed。 The age of onset was 11。00 (6。75， 20。50) years， with a male to female ratio of 1∶1。 The imaging findings of patients with LSCS with epilepsy were mainly manifested as multiple brain calcifications， soft tissue atrophy and skull thinning on the focal side。 The results of fundus examination and fundus fluorescein angiography in patients with LSCS with Coats-like response were mainly exudative inflammation and retinal detachment， including 1 case with cerebral cerebrovascular inflammation。 In terms of treatment， most of the patients with LSCS with epilepsy were treated with antiepileptic drugs， glucocorticoids combined with immunosuppressant， interleukin-6 inhibitor tozizumab， and the other 2 cases were treated with surgery。 Patients with LSCS with Coats-like response were treated with intravitreal bevacizumab in combination with glucocorticoids and immunosuppressive therapy or retinal targeted photocoagulation or local laser therapy with triamcinolone。 The above treatment can control the patient′s refractory epilepsy and improve the vision loss。 Conclusions The main manifestations of LSCS are en coup de sabre lesion with pigmentation on the forehead above the eyelid， accompanied by Coats-like response of the eye， epilepsy， and brain imaging abnormalities。 The above clinical features may appear successively or simultaneously。 In some patients， these symptoms may progress slowly， and can lead to blindness and refractory epilepsy severely。 Glucocorticoids combined with immunosuppressive therapy should be given as early as possible， and intravitreal bevacizumab therapy can improve visual loss of LSCS patients。
Adult linear scleroderma en coup de sabre with epileptic seizure and Coats-like response: a case report and literature review
Objective To report the clinical characteristics, diagnosis and treatment of a patient with linear scleroderma en coup de sabre (LSCS), and review the relevant literature in order to provide the basis for early diagnosis and timely treatment of the disease. Methods The clinical data and treatment process of a patient with LSCS admitted to Hangzhou Traditional Chinese Medicine Hospital Affiliated to Zhejiang Chinese Medical University on September 22, 2022 were summarized, and the case reports or case series studies related to LSCS with epilepsy or Coats-like response at home and abroad were systematically analyzed. The gender, age, onset time, clinical manifestations, treatment and prognosis of this type of patients were summarized. Results The patient is a 22 years old female with a history of scalp patchy alopecia and ipsilofrontal en coup de sabre for over 10 years and was diagnosed as Coasts disease due to decreased vision in the right eye 5 years ago, and now she is blind. This visit was due to "episodic loss of consciousness for more than 2 hours" with epileptic seizures and Coats-like response of the left eye. Treatment with antiepileptic drugs, glucocorticoids and immunosuppressants showed satisfactory results. The clinical data of all 20 patients with LSCS reported in domestic and foreign literature were analyzed. The age of onset was 11.00 (6.75, 20.50) years, with a male to female ratio of 1∶1. The imaging findings of patients with LSCS with epilepsy were mainly manifested as multiple brain calcifications, soft tissue atrophy and skull thinning on the focal side. The results of fundus examination and fundus fluorescein angiography in patients with LSCS with Coats-like response were mainly exudative inflammation and retinal detachment, including 1 case with cerebral cerebrovascular inflammation. In terms of treatment, most of the patients with LSCS with epilepsy were treated with antiepileptic drugs, glucocorticoids combined with immunosuppressant, interleukin-6 inhibitor tozizumab, and the other 2 cases were treated with surgery. Patients with LSCS with Coats-like response were treated with intravitreal bevacizumab in combination with glucocorticoids and immunosuppressive therapy or retinal targeted photocoagulation or local laser therapy with triamcinolone. The above treatment can control the patient′s refractory epilepsy and improve the vision loss. Conclusions The main manifestations of LSCS are en coup de sabre lesion with pigmentation on the forehead above the eyelid, accompanied by Coats-like response of the eye, epilepsy, and brain imaging abnormalities. The above clinical features may appear successively or simultaneously. In some patients, these symptoms may progress slowly, and can lead to blindness and refractory epilepsy severely. Glucocorticoids combined with immunosuppressive therapy should be given as early as possible, and intravitreal bevacizumab therapy can improve visual loss of LSCS patients.
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