生物医药系列产品

数据

资源

预约演示

更新于：2024-11-01

Epidermolysis Bullosa, Lethal Acantholytic

大疱性表皮松解症，致死性棘皮松解症

更新于：2024-11-01

基本信息

别名

EBLA、EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC、Epidermolysis bullosa, lethal acantholytic

+ [6]

简介

A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized oozing erosions, usually in the absence of blisters. Onset of the disease is at birth. Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity and gastrointestinal, genitourinary and respiratory tract abnormalities. The disease is due to mutations in the DSP (6p24) gene encoding desmoplakin. Transmission is autosomal recessive.

关联

项与大疱性表皮松解症，致死性棘皮松解症相关的药物

TAY-R2

靶点-

作用机制-

在研机构

Tay Therapeutics Ltd

原研机构

Tay Therapeutics Ltd

在研适应症

囊性纤维化 [+1]

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

100 项与大疱性表皮松解症，致死性棘皮松解症相关的临床结果

登录后查看更多信息

100 项与大疱性表皮松解症，致死性棘皮松解症相关的转化医学

登录后查看更多信息

0 项与大疱性表皮松解症，致死性棘皮松解症相关的专利（医药）

登录后查看更多信息

项与大疱性表皮松解症，致死性棘皮松解症相关的文献（医药）

2019-02-01·Journal of Cosmetic Dermatology4区 · 医学

A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma

4区 · 医学

Article

作者: Xue, Ke ; Cui, Yong ; Zheng, Yajie

SummaryBackgroundMutations in the desmoplakin (

DSP

) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK).AimsTo better understand the relationship between PPK and the gene mutations in

DSP

.MethodsA pedigree of PPK was subjected to heterozygous missense mutation analysis in the

DSP

gene. Dermoscopy, reflectance confocal microscopy, and histopathological examination were performed from each epidermis layer in this study. Samples were derived from the blood of patients and normal healthy controls.

DSP

gene sequence analysis and Q‐PCR analysis was performed for evaluating

DSP

gene mutation and expression.ResultsA novel heterozygous missense mutation c.3550 C>T in the coding region of the

DSP

gene, predicting substitution of arginine (Arg,R) by tryptophan (Trp,W) in the desmoplakin polypeptide, was discovered in a Chinese pedigree of PPK. In the meanwhile, this mutation was not found in 100 healthy individuals.ConclusionsThe novel missense mutation c.3550 C>T(p.Arg1184Trp) of

DSP

gene expanded the mutation spectrum in palmoplantar keratoderma.

2018-10-01·The American Journal of Dermatopathology4区 · 医学

Hailey–Hailey Disease With Coexistent Herpes Virus Infection: Insights Into the Diagnostic Conundrum of Herpetic/Pseudoherpetic Features in Cutaneous Acantholytic Disorders

4区 · 医学

Article

作者: Panthagani, Anusha P ; Tidman, Michael J ; Biswas, Asok ; Leitch, Claire S

Abstract:The specific histopathologic diagnosis of a primary acantholytic disorder takes into account the distribution and extent of acantholysis, presence or absence of dyskeratosis, nature of the dermal inflammatory cell infiltrate, and immunofluorescence findings. Herpes virus infection is a common cause of secondary acantholysis where distinctive viral cytopathic changes aid in making it a clear-cut diagnosis in majority of cases. We present a case of coexistence of Hailey–Hailey disease and herpes simplex virus infection to compare and contrast their histopathologic features. This is imperative because acantholytic cells from primary acantholytic disorders may occasionally show cytological features traditionally associated with herpes virus infection (pseudoherpetic changes). The objective of this article is to create a greater awareness of pseudoherpetic changes and also to explore the clinical significance of coexistence of a primary acantholytic disorder and herpes virus infection, as in this case.

2017-11-01·Journal of the American Academy of Dermatology1区 · 医学

Atypical features and systemic associations in extensive cases of Grover disease: A systematic review

1区 · 医学

Review

作者: Goldberg, Matthew ; Ryu, Jubin ; Gantz, Madeleine ; Shinkai, Kanade ; McCalmont, Timothy ; Butler, Daniel

BACKGROUNDGrover disease is an acantholytic disorder that typically occurs on the trunk of older individuals, primarily white men, in association with heat and xerosis. Cases with extensive and/or atypical distributions have been reported.OBJECTIVETo review the literature characterizing the population, morphology, associations, and disease course of extensive or atypical eruptions of Grover disease.METHODSA systematic literature review identified 50 articles with 69 cases.RESULTSPatient age ranged from 14 to 83 years (mean age, 56 ± 15), with 71% of patients being male and 29% female. Areas of involvement included the trunk (90%), upper and lower extremities (63% and 61%, respectively), face/scalp (28%), neck (21%), groin (11%), buttocks (8%), and axillae (6%). The most common associations included a history of malignancy (61%), recent chemotherapy (38%), and recent transplant (20%).LIMITATIONSExtensive cases with typical clinical morphology may not have been examined by biopsy or reported; thus, this review may have publication bias toward more severe or atypical presentations.CONCLUSIONSGreater variability exists among patients affected by extensive or atypical Grover disease than among those with typical disease. Malignancy is a common association, and there may be a role for immunosuppression in the pathogenesis of extensive or atypical Grover disease.