家族性良性慢性天疱疮16例临床及病理分析

目的:分析16例家族性良性慢性天疱疮患者的临床及组织病理特征,加强对该病的认识。方法:对16例家族性良性慢性天疱疮患者的临床及病理资料进行回顾性分析。结果:家族性良性慢性天疱疮好发部位为腋下、腹股沟、颈部、阴囊;病程1~20年不等,皮损多样,与部位及病程有关;日晒、出汗、受热、摩擦是其加重因素;组织病理特点为基底层上裂隙形成,棘层松解形似倒塌的砖墙;误诊率56.25%;该病治疗时间长,无标准治疗方案。结论:家族性良性慢性天疱疮易误诊,病程长,难治疗。     

家族性慢性良性天疱疮1家系8例报告

1家族性慢性良性天疱疮家系4代25人发现8例患病者,其中男4例,女4例,男女患病机会均等,发病年龄多在20～30岁,皮疹始发部位不一。季节、出汗、搔抓、饮酒、情绪等因素会加重皮疹。遗传方式:常染色体显性遗传。诊断:家族性慢性良性天疱疮。     

家族性良性慢性天疱疮的研究进展

家族性良性慢性天疱疮,1939年由Hailey兄弟首次报道,又称Hailey-Harley病(Hailey-Hailey disease,HHD),是一种少见的常染色体显性遗传性大疱性皮肤病,多在青春期发病,好发于20～40岁人群,70%患者有家族史,1男女发病率大致相等,无性别和种族差异.本病病程慢性,反复发作,夏重冬轻.出汗、摩擦、皮肤感染等可引起发病或加重病情.2     

浅层X线放射治疗家族性良性慢性天疱疮

目的： 评价浅层X线治疗5例家族性良性慢性天疱疮(HHD)患者的疗效。 方法： 对5例HHD患者的腋窝或腹股沟等部位行浅层X线治疗,每周1次,共3-4次,累积放射量9-12Gy。 结果： 5例患者随访4～35个月后,3例皮疹完全消退,2例部分改善,不良反应主要为色素沉着。结论： 浅层X线放射疗法治疗家族性良性慢性天疱疮安全有效。     

夫西地酸联合糠酸莫米松治疗慢性家族性良性天疱疮22例临床观察

目的观察夫西地酸乳膏联合糠酸莫米松乳膏治疗慢性家族性良性天疱疮的疗性及安全性。方法将入选的62例慢性家族性良性天疱疮患者通过随机数字表法分为3组:A组(22例)予夫西地酸乳膏联合糠酸莫米松乳膏外用,B组(20例)予糠酸莫米松乳膏外用;C组(20例)予夫西地酸乳膏外用,均2次/d,连用2周。结果治疗2周后,A组、B组和C组有效率为95.45%,65.00%和60.00%,秩和检验3组相比差异均有统计学意义(χ~2=10.703,P=0.005),A组疗效优于B组和C组(AB,Z=-2.69,P=0.007;AC,Z=-2.934,P=0.003)。62例患者均完成实验,无明显不良反应。结论夫西地酸联合糠酸莫米松治疗慢性家族性良性天疱疮疗效显著,安全可靠。     

CO2激光治疗家族性慢性良性天疱疮4例

家族性慢性良性天疱疮(FBCP)是一种显性遗传性皮肤病，目前国内治疗以联合药物治疗为主，但不能使病情长期缓解。为寻找一种有效的治疗方法，我们使用CO2激光治疗了4例患者，总结报告如下。     

泛发性家族性良性慢性天疱疮1例

报道1例泛发性家族性良性慢性天疱疮。患者女,53岁。反复发作全身瘙痒性皮疹20余年,皮损表现为周身泛发性红斑或斑丘疹,在红斑或正常皮肤上出现水疱和脓疱。皮损组织病检示:表皮内广泛的棘层松解,并形成表皮内水疱。直接免疫荧光检查结果阴性。诊断:家族性良性慢性天疱疮。     

用石蜡切片行C3d、C4d免疫组化染色辅助诊断大疱性类天疱疮的意义

目的 探讨C3d、C4d免疫组化染色在石蜡包埋组织切片中辅助诊断大疱性类天疱疮的价值.方法 通过免疫组织化学SP法检测20例大疱性类天疱疮患者石蜡包埋组织切片中C3d、C4d的表达,并与家族性良性天疱疮、大疱性表皮松解症患者及正常皮肤进行对照.结果 20例大疱性类天疱疮患者石蜡包埋切片C3d、C4d真表皮交界基底膜处沉积率为95％(19/20),9例大疱性表皮松解症患者中真表皮交界基底膜处C3d、C4d阳性率0％(0/9),4例家族性慢性良性天疱疮患者基底膜带均为阴性.结论 石蜡包埋组织切片中,C3d、C4d免疫组化染色可以作为辅助诊断大疱性类天疱疮的方法之一.     

家族性良性慢性天疱疮13例临床分析

回顾性分析本科1999年3月至2009年12月诊治的13例家族性良性慢性天疱疮的临床资料.男性发病占69.3%,有家族遗传史的占62.5%,69%的患者好发于夏季,腋下及腹股沟是好发部位.13例患者局部皮损常规真菌镜检5例阳性.急性期治疗以泼尼松、DDS和抗生素联用效果好,恢复期加阿维A疗效明显.     

泛发性家族性良性天疱疮

报告1例泛发性家族性良性天疱疮.患者男,56岁.反复发作全身瘙痒性皮损40余年,皮损表现为以躯干部位为主的泛发枉绿豆到黄豆大红斑或斑丘疹,以及在红斑或正常皮肤上出现的水疱.皮损组织病理检查示表皮内广泛的棘层松解,并形成表皮内水疱.直接免疫荧光检查结果阴性.家系调查示该家族66人中共有12人患此病.诊断:泛发性家族性良性天疱疮.机械摩擦、感染和搔抓是该病加重的重要因素.     

Hailey–Hailey disease: the clinical features, response to treatment and prognosis

Fifty-eight individuals with Hailey-Hailey disease were studied to delineate the clinical features, response to treatment and prognosis. The disease generally presented between the second and fourth decades, but the morphology of lesions was varied and a delay in diagnosis was common. Nail changes have not been documented in previous studies of Hailey-Hailey disease, but asymptomatic longitudinal white bands were present in the fingernails in 71% of 38 patients examined and are a helpful physical sign. The disease is predominantly flexural. Friction and heat or sweating exacerbate the lesions and pain may limit physical activities. The prognosis was assessed in 27 patients with longstanding disease and the long-term outlook is generally good. Seventeen patients had improved and the disease was static in seven patients. Three patients deteriorated with age. Topical corticosteroids with or without added antibiotics were an effective treatment.     

Severe impairment of quality of life in Hailey-Hailey disease

Hailey-Hailey disease (a skin fragility disorder) runs a chronic course and may cause important disability. However, little has been formally investigated concerning the quality of life (QoL) of patients affected by this disorder. We studied the impact of Hailey-Hailey disease on the QoL of 22 consecutive patients seen at our dermatological clinic. Patients were examined by a dermatologist, and they were asked to complete two self-administered questionnaires: the Skindex-29, in order to determine their QoL, and the 12-item General Health Questionnaire, to evaluate psychological distress. Completed questionnaires were returned by 20 patients. Even in patients with few body sites involved, median overall QoL scores were much higher than those observed in other skin conditions in all three domains investigated by the Skindex-29 (i.e. symptoms, emotions and social functioning). This was true also for the levels of psychological distress. QoL impairment was substantial irrespective of the number of body sites involved. Our findings document a great impact of Hailey-Hailey disease on patients' QoL. Therefore, a more aggressive therapeutic approach may be warranted in all patients, including those with few lesions.     

An immunohistological study of desmosomes in Darier''s disease and Hailey-Hailey disease

The immunocytochemical distribution of desmosomal components was determined in involved skin from eight patients with Darier's disease, five patients with Hailey-Hailey disease and two patients with transient acantholytic dermatosis as well as skin from four normal controls. Sections were stained using monoclonal antibodies to the desmosomal proteins dp1 and dp2 (desmoplakins) and the desmosomal glycoproteins dg1 (desmoglein), and dg2 and dg3 (desmocollins). There was normal expression of desmosomal proteins and glycoproteins at the periphery of the keratinocytes in the perilesional skin in Darier's disease, in Hailey-Hailey disease and in transient acantholytic dermatosis. In the lesional skin there was reduced expression of desmosomal proteins and glycoproteins in the basaloid 'buds' at the base of the lesions, but there was bright diffuse staining of the acantholytic cells. Focal intracellular staining was detected within many of the acantholytic keratinocytes in Hailey-Hailey disease and within some of these cells in Darier's disease. Suction blisters were used to induce fresh acantholysis in lesional skin in Darier's disease and clinically uninvolved skin in Hailey-Hailey disease. The results indicated that acantholysis precedes the development of intracellular staining. Although there are immunopathological abnormalities in the distribution of desmosomal proteins and glycoproteins in both Darier's disease and Hailey-Hailey disease, the changes are probably secondary to internalization of desmosomal components with breakdown and redistribution of antigens rather than a primary deficiency in the synthesis of these proteins. Focal internalization was more widespread in Hailey-Hailey disease than in Darier's disease and the differences in the distribution of desmosomal components in these diseases confirm that they are distinct entities.     

Familial benign chronic pemphigus (Hailey-Hailey disease). Treatment with carbon dioxide laser vaporization.

BACKGROUND--Familial benign chronic pemphigus (Hailey-Hailey disease) is characterized by recurrent blistering lesions, mainly in the neck and intertriginous areas. No controlled studies on laser treatment of this condition have been published. OBSERVATIONS--We used carbon dioxide laser vaporization to treat skin lesions in eight patients. In the six patients with symmetrical skin lesions, one lesion was chosen for CO2 laser vaporization and a corresponding lesion of similar location, size, and severity on the other side of the body was left untreated. Laser vaporization was performed in defocus in four to five layers. In five of six patients with symmetrical control lesions, laser-treated lesions showed substantial improvement in comparison with the untreated lesions. A similar improvement was seen in the treated lesions of the two patients without control lesions. During the mean follow-up of 20 months (range, 10 to 27 months), skin lesions recurred in the laser-treated areas in three patients, but not in the other five. Histopathologic studies performed on two patients indicated that the effect of the CO2 treatment might be due to fibrosis of the upper dermal tissues. The adnexal glands were unaffected. CONCLUSIONS--Carbon dioxide laser vaporization is an effective treatment for familial benign chronic pemphigus.     

Hailey-Hailey disease with dissemination and eczema herpeticatum in therapy with etretinate

We report a 39-year-old patient with Hailey-Hailey disease localized mainly in the genito-femoral and scrotal areas. During hospital treatment the condition worsened due to superinfection with Candida albicans and gram-negative bacteria. Treatment with systemic steroids followed by aromatic retinoids was tried: eczema herpeticum developed in the affected areas, and dissemination of Hailey-Hailey disease ultimately occurred with papulo-vesicular and histologically characteristic lesions.     

A novel splice mutation in the ATP2C1 gene in a woman with concomitant psoriasis vulgaris and disseminated Hailey-Hailey disease

Concurrent psoriasis vulgaris and Hailey-Hailey disease is very rare. The clinical and pathologic findings of widespread Hailey-Hailey disease in a 48-year-old woman with pre-existing generalized psoriasis vulgaris were described. In our patient, the vesicular eruption of Hailey-Hailey disease was obscured clinically by the psoriatic lesions. The diagnosis of both diseases was confirmed pathologically. The patient had a total of five skin biopsies performed over the neck, flank area, back, pubic area, and a finger. Acantholytic dyskeratosis, changes suggestive of Hailey-Hailey disease, were found in four specimens, psoriasis in two specimens, and both diseases in one specimen. The diagnosis of Hailey-Hailey disease was further confirmed by detecting a novel splice mutation (832G>A) in the ATP2C1 gene. Our case illustrated that diagnosis of disseminated Hailey-Hailey disease may easily be missed in a patient with a pre-existing generalized pruritic eruption, such as psoriasis. The appearance of eczematous vesicular eruption or eroded intertrigo-like lesions in a patient with pre-existing generalized eruption should raise a suspicion of Hailey-Hailey disease.     

178例艾滋病皮肤表现的临床分析

目的:探讨艾滋病皮肤粘膜疾病的病种分布、临床表现特点。方法:回顾分析178例艾滋病患者住院期间皮肤粘膜疾病的种类、特征及实验室指标。结果:艾滋病皮肤粘膜损害复杂,以真菌、病毒感染为主,分别为165例(92.7%)、120例(67.4%),疾病种类依次为口腔念珠菌病、口腔毛状粘膜白斑、马内青霉病、带状疱疹等23种。有2种以上皮肤粘膜疾病者128例(71.9%)。91.6%的艾滋病患者皮肤粘膜疾病发生于CD4 T淋巴细胞小于200 cells/μL时,其中发生于小于50 cells/μL占74.7%。结论:艾滋病皮肤粘膜损害以真菌、病毒感染为主,皮损的镜检、真菌培养可作为艾滋病皮损常规检查之一,皮肤马内青霉感染是诊断艾滋病的重要线索,部分皮肤粘膜病变可作为诊断疾病进入艾滋病期的依据之一。     

Treatment of cutaneous T-cell lymphoma

Intensive treatment of cutaneous T-cell lymphoma with modalities directed only at skin manifestations appears to cure up to 40 per cent of patients with early, limited skin involvement. For patients with widely disseminated skin lesions, the dermatologist often must choose a treatment regimen with both cutaneous and systemic effects in order to provide effective long-term control. Although vigorous combined-modality therapy results in improved disease-free survival intervals, it also has significant associated morbidity. When compared with less intensive treatment regimens, it is not clear at this time whether such combined-modality therapy improves either the cure rate or overall survival intervals of patients with early disease. For this reason, the authors recommend a conservative treatment program initially for most patients unless there is clinical evidence that the patient has biologically aggressive disease.