更新于：2024-11-01

Pemphigus Vulgaris, Familial

家族性寻常型天疱疮

更新于：2024-11-01

基本信息

别名

Familial pemphigus vulgaris、PEMPHIGUS VULGARIS, FAMILIAL、Pemphigus vulgaris, familial

+ [1]

简介-

关联

项与家族性寻常型天疱疮相关的药物

Rituximab

利妥昔单抗

靶点

CD20

作用机制

CD20抑制剂 [+3]

在研机构

National Cancer Institute [+27]

原研机构

Genentech, Inc.

在研适应症

心脏移植排斥反应 [+109]

非在研适应症

急性移植物抗宿主病 [+124]

最高研发阶段批准上市

首次获批国家/地区

美国

首次获批日期1997-11-26

DSG3-CAART

靶点

DSG3

作用机制

DSG3调节剂

在研机构

Cabaletta Bio, Inc.

原研机构

Cabaletta Bio, Inc.

在研适应症

家族性寻常型天疱疮

非在研适应症-

最高研发阶段临床1/2期

首次获批国家/地区-

首次获批日期1800-01-20

100 项与家族性寻常型天疱疮相关的临床结果

登录后查看更多信息

100 项与家族性寻常型天疱疮相关的转化医学

登录后查看更多信息

0 项与家族性寻常型天疱疮相关的专利（医药）

登录后查看更多信息

项与家族性寻常型天疱疮相关的文献（医药）

2024-05-01·Clinical Case Reports

Juvenile pemphigus vulgaris: Literature review and a rare case report

作者: Mansoori, Shahnaz ; Sriram, Shyamkumar ; Saeed, Shazina ; Hasan, Shamimul ; Ramalingam, Karthikeyan ; Banerjee, Abhishek

Key Clinical MessagePemphigus vulgaris (PV) is a chronic autoimmune blistering disorder characterized by the loss of intraepithelial adhesion affecting the skin and mucous membranes, predominantly affects females in their fifth and sixth decades of life. Due to its rare occurrence in children and adolescents, there is often a delay in diagnosis and treatment in this age group. PV should always be considered in the differential diagnosis of oral ulcerative and vesiculobullous lesions in both children and adolescents.

2024-04-15·Cureus

Rituximab in Childhood and Juvenile Pemphigus Vulgaris: A Systematic Review

Review

作者: Mariam, Sarah ; Buch, Sajad A ; Hasan, Shamimul ; Abid, Laraib ; Ahmad, Syed A ; Mansoori, Shahnaz ; Shrivastava, Priyanshu

Pemphigus vulgaris (PV) is a chronic autoimmune blistering disorder characterized by the loss of intraepithelial adhesion, affecting the skin and mucous membranes. Both males and females are affected, although it predominantly affects females in their fifth and sixth decades of life. Approximately 1.4 to 3.7% of PV cases occur in the pediatric population (≤18 years of age), and may be classified into childhood/pediatric PV, which affects individuals under 12 years old, and juvenile/adolescent PV, affecting those between 12 and 18 years old. Due to its rare occurrence in children and adolescents, there is often a delay in diagnosis and treatment in this age group. A systematic literature search was conducted on MEDLINE/PubMed, Web of Science, EMBASE, SCOPUS, and Cochrane Library databases to evaluate the efficacy of rituximab (RTX) in childhood and juvenile PV patients. The Joanna Briggs Institute (JBI) Critical Appraisal Checklist was employed to assess the risk of bias in case reports and series, while the Cochrane ROBINS-I tool was utilized for evaluating observational studies or non-randomized intervention studies. A total of 18 studies encompassing 46 juvenile or childhood PV patients in the pediatric and adolescent age groups were included for qualitative synthesis. The studies included nine case reports, two case series, five retrospective studies, one prospective study, and one open-label pilot study. Almost all cases of childhood and juvenile PV achieved either complete or partial remission after undergoing RTX treatment during the final follow-up periods. Furthermore, most cases reported no relapse, and only minor adverse events were noted in the RTX treatment group. Despite its potential benefits, the utilization of RTX in pediatric patients raises concerns due to the scarcity of evidence and the absence of controlled studies specific to this age group. Further exploration is necessary to establish a standardized treatment regimen for RTX in pediatric PV, which involves identifying the optimal dosage, frequency, treatment cycle duration, and maintenance therapy duration.

2016-01-01·Case Reports in Dermatological Medicine

Familial Pemphigus Vulgaris Occured in a Father and Son as the First Confirmed Cases

Article

作者: Uzun, Soner ; Ozkesici, Birgul ; Eskiocak, Ali Haydar

Pemphigus vulgaris (PV) is a chronic autoimmune bullous disease of the skin and mucous membranes. Although there is some evidence pointing towards a genetic predisposition by some human leukocyte antigen (HLA) genes, familial occurrence of PV is very rare. Most of the familial PV cases so far reported have been in mother and daughter and in siblings. PV in father and son, as presented here, has not been reported in the literature before, except an unconfirmed report. The diagnosis of PV was established by histologic, cytologic studies and enzyme linked immunosorbent assay (ELISA) in Case1and by ELISA and BIOCHIP indirect immunofluorescence test in Case2. The son was responsive to moderate doses of methylprednisolone, with the treatment continuing with tapered doses. The father was in a subclinic condition; consequently, only close follow-up was recommended. HLA typing studies revealed identical HLA alleles of HLA-DR4 (DRB1⁎04) and HLA-DQB1⁎03in both of our cases; this had been found to be associated with PV in prior studies. Familial occurrences of PV and related HLA genes indicate the importance of genetic predisposition. The first occurrence of confirmed familial PV in father and son is reported here.