KEGG   DISEASE: H00585Help
Entry
H00585                      Disease                                

Name
Epidermolysis bullosa, hemidesmosomal, including:
Epidermolysis bullosa, generalized atrophic benign (GABEB);
Epidermolysis bullosa simplex with pyloric atresia (EBS-PA);
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD);
Epidermolysis bullosa simplex, Ogna type (EBS-Ogna)
Description
Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The conditions in which the blister formation occurs at the level of hemidesmosome are classified as hemidesmosomal variants.
Category
Skin and connective tissue disease
BRITE hierarchy
Pathway
Focal adhesion
ECM-receptor interaction
Gene
(GABEB) LAMA3 [HSA:3909] [KO:K06240]
(EBS-PA, EBS-MD, EBS-Ogna) PLEC1 [HSA:5339] [KO:K10388]
Other DBs
Reference
PMID:20616732 (desciption)
  Authors
Fine JD
  Title
Inherited epidermolysis bullosa: recent basic and clinical advances.
  Journal
Curr Opin Pediatr 22:453-8 (2010)
Reference
PMID:20536471 (desciption)
  Authors
Fine JD
  Title
Inherited epidermolysis bullosa: past, present, and future.
  Journal
Ann N Y Acad Sci 1194:213-22 (2010)
Reference
PMID:15708287 (gene)
  Authors
Uitto J, Richard G
  Title
Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
  Journal
Clin Dermatol 23:33-40 (2005)
Reference
PMID:20507384 (gene)
  Authors
Sawamura D, Nakano H, Matsuzaki Y
  Title
Overview of epidermolysis bullosa.
  Journal
J Dermatol 37:214-9 (2010)
Reference
PMID:20507631 (gene)
  Authors
Fine JD
  Title
Inherited epidermolysis bullosa.
  Journal
Orphanet J Rare Dis 5:12 (2010)

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