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hailey-hailey病:广泛的细胞粘着性异常

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International Journal of Dermatology And Venereology 1992年第3期 183-184页

作者：钱恒林

hailey-hailey病与Darier病在临床及病理上有许多相似之处,二者有时难以区分,而且可以并发。研究负压吸疱法对hailey-Hai ley病患者表皮的影响,并观察此技术是否可用于两病的鉴别。研究对象为3例经临床及病理证实的成年男性Hai ley-Hai... 详细信息

hailey-hailey病与Darier病在临床及病理上有许多相似之处,二者有时难以区分,而且可以并发。研究负压吸疱法对hailey-Hai ley病患者表皮的影响,并观察此技术是否可用于两病的鉴别。研究对象为3例经临床及病理证实的成年男性Hai ley-hailey病患者,都有本病的家族史。用Perspex吸疱杯置于从未受累、临床上正常的

关键词：粘着性 hailey-hailey 表皮皮肤

家族性慢性良性天疱疮(hailey-hailey病)患者的接触过敏反应

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International Journal of Dermatology And Venereology 1990年第5期 299-300页

作者：戴星

据文献报道,局部和全身应用抗细菌或抗真菌药物治疗家族性慢性良性天疱疮(hailey-Haile病,HHD)有效,一些病人局部和口服皮质类固醇激素也有益。文献只报道过1例局部应用新霉素过敏的病例,本文探讨HHD患者的局部接触过敏反应发生率是否... 详细信息

据文献报道,局部和全身应用抗细菌或抗真菌药物治疗家族性慢性良性天疱疮(hailey-Haile病,HHD)有效,一些病人局部和口服皮质类固醇激素也有益。文献只报道过1例局部应用新霉素过敏的病例,本文探讨HHD患者的局部接触过敏反应发生率是否增高。

关键词：患者局部治疗氢化丁酸阳性饱和脂肪酸 hailey-hailey 家族性接触过敏反应

2例hailey-hailey病患者ATP2C1基因的新突变

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世界核心医学期刊文摘（皮肤病学分册） 2005年第10期1卷 46-47页

作者： Rácz E Csikós M Kárpáti S 潘敏 Department of Dermato-Venereology Semmelweis University BudapestHungary

Benign familial chronic pemphigus (hailey-hailey disease,HHD) is a rare hereditary condition characterized by development of blisters at sites of friction and in the intertriginous areas. Mutations in the ATP2C1 gene, which encodes the human secretory pathway calcium ATPase 1 (hSPCA1), have been identified as possible causative mutations. Studying Hungarian patients with HHD, we found two novel, distinct, heterozygous mutations. In a 65-year-old man with a 41-year history of severe recurrent symptoms, a single nucleotide insertion,1085insA, was detected. In a patient whose symptoms were induced by environmental contact allergens, we found a nonsense mutation, Q506X, in exon 17. Our study further illustrates the diversity of mutational events in the pathogenesis of HHD.

关键词： ATP2C1 hailey-hailey 基因突变接触性变应原无义突变大疱摩擦部位遗传性疾病杂合突变族性

1例hailey-hailey病日本患者ATP2C1基因的新突变

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世界核心医学期刊文摘（皮肤病学分册） 2006年第4期2卷 50-51页

作者： Ohtsuka T. Okita H. Hama N. Yamazaki S. 罗素菊徐波 Department of Dermatology Koshigaya Hospital Dokkyo University School of Medicine 2- 1- 50Minami- Koshigaya Koshigaya Saitama 343- 8555 Japan

hailey- hailey disease (HHD) is an autosomal dominant disorder with recurrent eruption of vesicles and bullae involving predominantly the neck, groin and axillary regions. Histopathology shows suprabasal cleavage in epidermal cells. Recent studies have revealed that HHD is caused by mutations in the ATP2C1 gene encoding a novel Ca2+ pump. We analyzed mutations of the ATP2C1 gene in 2 Japanese patients with HHD. The diagnosis of HHD was made based on the characteristic clinical features and histopathological evidence. All 27 exons and flanking intron boundaries were amplified by polymerase chain reaction and products analyzed by sequencing. As a result, we identified a novel missense mutation (A1087G) in exon 13 of the ATP2C1 gene in a patient. This mutation led the amino acid change from Thr to Ala in the phosphorylation protein domain. Another patient showed no mutation of the gene. These results demonstrate that a spectrum of ATP2C1 gene mutations is present in Japanese HHD patients.

关键词：基因突变 ATP2C1 hailey-hailey 磷酸化蛋白病理学检查组织病理学水疱疹突变

培养hailey-hailey病和Darier病患者的角质形成细胞揭示了钙调节的特殊模式

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世界核心医学期刊文摘（皮肤病学分册） 2005年第10期1卷 29-30页

作者： Leinonen P.T MyllylR.M Hgg P.M J. Peltonen 罗素菊 Department of Anatomy and Cell Biology University of Oulu PB 5000 90014 Oulu Finland

Background:hailey-hailey disease (HHD) (OMIM 16960) and Darier disease (DD) (OMIM 124200) are dominantly inherited acantholytic skin diseases, respectively, caused by mutations in the genes encoding the Golgi secretory pathway Ca2+-ATPase (SPCA1, ATP2C1) and the sarco/endoplasmic reticulum Ca2+ATPase type 2 (SERCA2, ATP2A2) genes. Objectives:To investigate calcium regulation in keratinocytes cultured from patients with HHD and DD by measuring intracellular calcium resting levels and the cellular responses to ATP and thapsigargin. Methods The study was carried out using keratinocyte cultures established from four patients with HHD and four with DD. Calcium concentrations were measured with fluorescence ratio imaging using fura-2 loading. Results:Control and HHD keratinocytes displayed approximately the same Ca2+levels in resting phase, while DD keratinocytes showed elevated Ca2+levels. Application of ATP caused less pronounced elevation of intracellular calcium concentration ([Ca2+] i) in both HHD and DD keratinocytes than in control cells. HHD keratinocytes did not lower their [Ca2+] i as efficiently as control keratinocytes after treatment with thapsigargin. In addition, DD keratinocytes were practically incapable of lowering their [Ca2+]i after treatment with thapsigargin. Conclusions:The results demonstrate that the defects in SPCA1 and SERCA2 calcium ATPases result in distinct patterns of calcium metabolism. This is also supported by the different clinical features of the diseases.

关键词：角质形成细胞 Darier hailey-hailey 毒胡萝卜素棘层松解静止期基因突变负荷试验钙浓度显性遗传

CO_2激光汽化疗法治疗hailey-hailey病(法国)

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世界核心医学期刊文摘（皮肤病学分册） 2005年第12期1卷 31-31页

作者： Villette A.- M.C. Richard M.- A. Fourquet F. 惠海英 Service de Dermatologie Hpital Sainte- Marguerite 270 boulevard de Sainte Marguerite 13270 Marseille Cedex 09 France

Introduction. Only ablative methods lead to long termremission of areas affected by hailey- hailey disease: excision/skin graft, cryosurgery, dermabrasion... The method using the CO2 laser is a recent addition in the management of this dermatitis. We report our experience with this technique in 4 patients. Patients and methods. Carbon dioxide laser vaporization was proposed to 4 patients exhibiting hailey- hailey disease resistant to classical treatments. A test under local anesthesia was performed beforehand in all the patients. A 60 year- old man had an immediate reaction and refused to continue treatment. In the other 3 cases, the result of the test at 6 months was considered satisfactory. These patients were treated under general anesthesia in a single area of 50 to70 cm2, and a half- body for comparison. The CO2 laser was used in pulse mode, with successive irradiations, until a homogenous, whitish- yellow aspect with first retraction was obtained. Results. Although the healing delays were long (a mean of 1 month) and required major analgesics over the first few days, the cosmetic results were satisfactory and no abnormal scarring was observed. After a median follow- up of 27 months, no relapse of the disease other than punctiform elements was noted. All the patients wanted treatment of the other remaining affected areas be continued. In 2 patients, CO2 laser vaporization permitted treatment of areas not easily accessible to other ablative methods (around the mouth, the anus and the vulva) with anatomy and normal function spared. Discussion. These results are globally good. Although the time to healing was long, the cosmetic and functional results were always satisfactory, without abnormal scarring. Moreover, in 2 of the patients, CO2 laser was able to treat areas inaccessible to other methods. The reason for the efficacy of ablative methods is debated. Re- epidermization with keratinocytes of appendices and not expressing the molecular defect, and the constitu

关键词：激光汽化疗法 CO2激光 hailey-hailey 皮肤磨削术烧蚀疗法皮肤附属器局部麻醉角质形成细胞受累部位冷冻手术

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家族性良性慢性天疱疮的非常态

家族性良性慢性天疱疮的非常态

作者：杨晓雯苏州大学

学位级别：硕士

家族性慢性良性天疱疮(Familial Benign Chronic Pemphigus,FBCP)是一种少见的常染色体显性遗传性大疱性皮肤病,临床上以疼痛性糜烂、水疱及脱屑性红斑块为特征,主要发生于摩擦部位如颈部、腋下、腹股沟及会阴部。近几年在临床上逐渐可... 详细信息

家族性慢性良性天疱疮(Familial Benign Chronic Pemphigus,FBCP)是一种少见的常染色体显性遗传性大疱性皮肤病,临床上以疼痛性糜烂、水疱及脱屑性红斑块为特征,主要发生于摩擦部位如颈部、腋下、腹股沟及会阴部。近几年在临床上逐渐可见到不典型的病例,包括少见部位及不典型皮损损害如斑丘疹、角化性丘疹、乳头瘤样增殖病变、掌趾部偶有点状小坑及散在分布的角化也偶可见到。本文就近年来文献资料中有关该病的不典型临床表现包括发病年龄、基因、诱发因素、皮疹情况、组织病理学、合并情况、治疗反应等方面做一综述。

关键词：家族性慢性良性天疱疮 hailey-hailey