Benign familial chronic pemphigus (Hailey-Hailey disease) responds to cyclosporin

A patient with benign familial chronic pemphigus was treated with cyclosporin at a dose ranging from 2.8 to 3.4 mg/kg per day. There was a clear improvement in the area of skin affected and in exudation and soreness. The response was maintained for 24 weeks but there was a gradual deterioration after treatment was stopped.     

Benign familial pemphigus complicated by herpes simplex virus

Herpes simplex should be recognized as a precipitating factor, a secondary invader, or an imitator of chronic benign familial pemphigus. Results of Tzanck smear and viral culture can confirm the presence of the pathogen so that acyclovir therapy can be instituted.     

Benign familial pemphigus: little benefit from superficial radiotherapy

Benign familial pemphigus (Hailey-Hailey disease) is a rare relapsing-remitting epidermal blistering disease palliated by a multitude of medical and surgical treatments. There are limited reports of benefit from low-penetration X-rays. We describe two resistant cases that appeared to respond initially to superficial radiotherapy, a 66-year-old man who had multiple courses to the groins (4 x 2.00 Gy/5 x 3.00 Gy) and to the axillae and low back (10 x 2.00 Gy) and a 53-year-old man treated twice to the groins and perineum (5 x 3.00 Gy/10 x 2.00 Gy). However, on longer follow up, benefit was found to be questionable. We conclude that while superficial radiotherapy may offer temporary relief, there is little evidence that it alters the natural history of this disease.     

家族性良性天疱疮一家系报道及其ATP2C1基因筛查

目的 报道一个家族性良性天疱疮家系并对其致病基因ATP2C1进行突变筛查。方法 对先证者及其家族4代成员进行临床调查。采集每一成员静脉血标本,同时采集50例健康人血液标本作为对照。提取外周血基因组DNA,分别对 ATP2C1基因的所有28个外显子及其侧翼内含子序列进行PCR扩增,再对每一扩增产物进行直接测序,最后将测序结果分别与基因库（NM_014382.2和NC_000003.9）的编码序列和基因组序列进行逐一比对分析。结果 调查该家系4代24个成员,共有8例患者。基因筛查显示先证者和该家族其他患者的ATP2C1基因第17号外显子上发生一单核苷酸碱基置换,即c（1696C→T）;同时该家族中第2代、第3代正常成员和50例健康对照均未检测到这一碱基变化。第4代4个成员中,仅有1个成员,即Ⅳ3,亦检测到这一变化。结论 该家系患者ATP2C1基因发生c（1696C→T）无义突变,可能是家族性良性天疱疮的致病突变;Ⅳ3携带该突变,但到目前为止,其未发生家族性良性天疱疮的相关临床症状,有必要对其进行密切随访。     

Genetics of Hailey-Hailey familial chronic benign pemphigus

Starting from 12 index patients with familial benign chronic pemphigus from 11 kindreds, systematic kindred examinations were carried out with 182 relatives. 11 pedigrees were established. In this process 6 patients out of 3 kindreds were identified additionally. 10 genotypic carriers of the disease were found of 30 examined relatives by a newly developed UV-provocation test. An autosomal-dominant hereditary pattern was proven for sure and with high probability, respectively, in 10 out of 11 kindreds by formal genetic genealogy-examinations. There was an incomplete penetrance in 3 kindreds. A sex-determined heredity of disease can be excluded. There was no association between familial benign chronic pemphigus and HLA-A, B, C-system.     

家族性慢性良性天疱疮一例

临床资料 患者,男,40岁。主因反复皱褶部红斑、糜烂20余年,于2011年3月21日就诊。患者20年前发现腋窝等皱褶处出现红斑、糜烂,两周后自行缓解。此后皮疹反复发作,曾以＂湿疹＂予外用药物治疗,效果欠佳。否认外伤史。既往体健,无糖尿病等疾病史。