无汗性外胚层发育不良伴免疫缺陷一例

A case of anhidrotic ectodermal dysplasia with immunodeficieney

患儿男，16个月。出生2个月后，反复出现不明原因发热，体温在38～40℃之间，敞开衣物并口服退热药后热退，发热及退热过程中皮肤始终干燥。7个月时行皮肤活检，诊断为无汗性外胚层发育不良。6个月起至今，反复发生上呼吸道感染或肺炎。20d前，患儿出现舌部破溃糜烂，口周和双手红斑、水疱，伴高热。4d前，皮疹加重，收入院。皮肤科检查示牙发育不全，仅见2颗门齿，呈上圆下尖的锥形；口唇周围、鼻腔、下颏和双下颌多处破溃糜烂，结厚血痂。臀部、阴囊和下肢见多处溃疡，部分溃疡周围有红斑基础上成簇水疱，中央有脐凹。双手暗紫红色肿胀，伴大量糜烂、结痂和渗出。实验室检查示白细胞和C反应蛋白显著增高，CD3、CD8和自然杀伤细胞降低，IgM降低。I型单纯疱疹病毒IgM抗体阳性。诊断：无汗性外胚层发育不良伴免疫缺陷，播散性单纯疱疹病毒感染。入院后给予更昔洛韦抗病毒治疗和抗生素治疗，辅以营养支持和创面护理，治疗3周后皮疹愈合，痂皮脱落。

To report a case of 16-month-old boy with anhidrotic ectodermal dysplasia with immunodeficiency who experienced disseminated herpes simplex infection. From 2 months of age, the patient experienced multiple pyrexial episodes of undetermined origin, which responded well to anti-inflammatory agents after undressed. Abnormal sweat with dry skin was noted; therefore, the skin biopsy of right axilla was performed at 7 months of age, and suggested a diagnosis of anhidrotic ectodermal dysplasia. Since 6 months of age, he developed recurrent upper respiratory infections and 2 episodes of pneumonia. Twenty days before, several glossal erosions occurred in the patient, supervened by painful and erosive eruptions and numerous blisters around the mouth and both hands with hyperpyrexia. Four days before, the patient was transferred to the department owing to skin lesion exacerbation. Cutaneous examination showed multiple crusted or ulcerated plaques distributed periorificially （mouth and nasal cavity） on the face. Several irregular, demarcated ulcers were scattered on the buttocks, scrotum and lower limbs, surrounded by grouped and umbilicated vesicles arising on erythema. Both hands were swelling, crusting and painful. Dentition was abnormal, and the patient had only 2 upper conical incisors. Routine investigation revealed that white cell count and C-reactive protein extremely elevated. Immunologic profile showed an abnormal distribution of lymphocyte subsets with decreased CD3＋ T cells, CD8＋ T cells and NK cells. Serum IgM level was slightly low. IgM antibodies to herpes simplex virus type 1 （HSV-1） were detected by serological testing. Based on the above-mentioned features, a diagnosis of anhidrotic ectodermal dysplasia with immunodeficiency and disseminated herpes simplex infection was confirmed. The patient was resolved favourably after intravenous ganciclovir and antibiotics for 3 weeks without relapse of skin lesions.