CEL基因突变的糖尿病酮症相关性色素性痒疹1例

Diabetic Ketosis -Associated Prurigo Pigmentosa with CEL Gene Mutation:A Case Report

目的 分析糖尿病诱发的色素性痒疹的临床特点、实验室检查及治疗,探讨发病机制,提高对该疾病的认识,降低误诊率,完善色素性痒疹的临床诊断思路。方法 对1例CEL基因突变的糖尿病酮症诱发的色素性痒疹病例进行分析,通过从中国知网、万方医学数据中心以及Pubmed等数据库中检索色素性痒疹的国内外相关文献报道,收集糖尿病诱发的色素性痒疹,并对其流行病学、病因学、诊断、病理学、治疗及预后等特点进行总结。结果 患者平均发病年龄为(24.88±10.92)岁,男女比为2∶1。皮损特点及分布:所有患者皮损均对称分布,累及背部(18/24),前胸(10/24),腹部(7/24),颈部(6/24),四肢(5/24),骶尾部(3/24),肩胛部(3/24),面部(2/24)。皮损病理表现的共同特点为:表皮海绵水肿,真皮乳头水肿,真皮血管周围以淋巴细胞为主的细胞浸润。部分皮损可见角化过度、基底细胞液化变性、色素失禁、坏死细胞及Civatte小体等表现。在详细描述的24例糖尿病中,15例合并1型糖尿病,7例合并2型糖尿病,2例糖尿病类型不明。结论 色素性痒疹的病因尚不明确,糖尿病可诱发疾病,考虑与酮体水平升高相关。当出现色素性痒疹特征性的皮疹时,应尽快寻找疾病的原发病及诱因,尽早诊断并及时治疗。

Objective To analyze the clinical features,pathogenesis laboratory tests and treatment of prurigo pigmentosa caused by diabetes mellitus,in order to improve the clinical diagnosis of prurigo pigmentosa and reduce the rate of misdiagnosis.Methods A case of diabetic ketosis associated prurigo pigmentosa induced by CEL gene mutation was analyzed,and the relevant literature reports of prurigo pigmentosa caused by diabetes mellitus were collected by searching literature in Chinese and English from CNKI,Wanfang Medical Data Center and Pubmed,and its epidemiology,etiology,diagnosis,pathology,treatment and prognosis were summarized.Results The mean age of onset of patients was(24.88±10.92) years,with a male-to-female ratio of 2∶1.Lesion characteristics and distribution:all patients had symmetrical lesions affecting the back(18/24),anterior chest(10/24),abdomen(7/24),neck(6/24),extremities(5/24),sacrococcygeal(3/24),scapula(3/24),and face(2/24).The common features of the pathological manifestations of skin lesions showed epidermal sponge edema,dermal papilledema,and lymphocyte-dominated cell infiltration around the dermal vessels.Some lesions may showed hyperkeratosis,basal cell liquefaction degeneration,pigment incontinence,necrotic cells,and Civatte bodies.Among the 24 cases of diabetes described in detail,15 had type 1 diabetes,7 had type 2 diabetes,and 2 had unknown diabetes.Conclusion The cause of prurigo pigmentosa is unknown,and diabetes can precipitate disease,which is thought to be associated with elevated ketone levels.When prurigo pigmentosa is present,the primary cause and predisposing cause of the disease should be sought as soon as possible,and early diagnosis and prompt treatment are required.