KEGG DISEASE: Epidermolysis bullosa

DISEASE: Epidermolysis bullosa

Entry

H01737                      Disease

Name

Epidermolysis bullosa

Subgroup

Epidermolysis bullosa simplex [DS:H00584]
Epidermolysis bullosa, junctional [DS:H00586]
Epidermolysis bullosa, dysprophica [DS:H00587]
Kindler syndrome [DS:H00588]
Epidermolysis bullosa, lethal acantholytic (EBLA)

Description

Inherited epidermolysis bullosa (EB) is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. Most of the more severe subtypes are associated with clinically significant extracutaneous complications. Some subtypes may lead to death, even in early infancy. There are four major types of EB: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   Genetically-determined epidermolysis bullosa
    EC3Z  Epidermolysis bullosa
     H01737  Epidermolysis bullosa

Gene

(EBLA) DSP [HSA:1832] [KO:K10381]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:20536471

Authors

Fine JD

Title

Inherited epidermolysis bullosa: past, present, and future.

Journal

Ann N Y Acad Sci 1194:213-22 (2010)
DOI:10.1111/j.1749-6632.2010.05463.x

Reference

PMID:24007552

Authors

Tampoia M, Bonamonte D, Filoni A, Garofalo L, Morgese MG, Brunetti L, Di Giorgio C, Annicchiarico G

Title

Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa.

Journal

Orphanet J Rare Dis 8:132 (2013)
DOI:10.1186/1750-1172-8-132

Reference

PMID:20302578 (DSP)

Authors

Bolling MC, Veenstra MJ, Jonkman MF, Diercks GF, Curry CJ, Fisher J, Pas HH, Bruckner AL

Title

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.

Journal

Br J Dermatol 162:1388-94 (2010)
DOI:10.1111/j.1365-2133.2010.09668.x

» Japanese version

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Disease (1)   
   OMIM (1)   
Drug (5)   
   KEGG DRUG (5)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (11)   

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