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lethal acantholytic Epidermolysis bullosa

Also Known As:

Epidermolysis bullosa, lethal acantholytic

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Cardiomyopathies (Cardiomyopathy)
2.	Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)

Experts

1.	Jonkman, Marcel F: 3 articles (11/2010 - 10/2005)
2.	Cui, Yong: 1 article (02/2019)
3.	Xue, Ke: 1 article (02/2019)
4.	Zheng, Yajie: 1 article (02/2019)
5.	Bolling, Marieke C: 1 article (11/2010)
6.	Getsios, Spiro: 1 article (11/2010)
7.	Green, Kathleen J: 1 article (11/2010)
8.	Han, Sandra Y: 1 article (11/2010)
9.	Hobbs, Ryan P: 1 article (11/2010)
10.	Jongbloed, Jan D H: 1 article (11/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to lethal acantholytic Epidermolysis bullosa:

1.	Desmoplakins (Desmoplakin)IBA 11/01/2010 - "Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa." 06/01/2010 - "One of these phenotypes, lethal acantholytic epidermolysis bullosa (LAEB), is characterized by extensive postnatal shedding of epidermis leading to early demise and is caused by recessive mutations in the gene DSP resulting in truncation of the desmoplakin C-terminus. " 06/01/2010 - "Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart." 10/01/2005 - "Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa." 02/01/2019 - "Mutations in the desmoplakin (DSP) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK). "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2010 - "Lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessive disorder caused by mutations in the gene encoding the desmosomal protein, desmoplakin (DSP). "