KEGG   DISEASE: H00586Help
Entry
H00586                      Disease                                

Name
Epidermolysis bullosa, junctional, including:
Epidermolysis bullosa, junctional, Herlitz type (JEB-H);
Epidermolysis bullosa, junctional, non-Herlitz type (JEB-nH);
Epidermolysis bullosa, junctional, with pyloric atresia (JEB-PA)
Description
Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa are characterized by blister formation within the lamina lucida of the dermal-epidermal basement membrane. Herlitz subtype, the classic form of the disease, shows a severe phenotype that may lead to death during infancy or early childhood owing to infection.
Category
Skin and connective tissue disease
BRITE hierarchy
Pathway
Focal adhesion
ECM-receptor interaction
Cell adhesion molecules (CAMs)  
Regulation of actin cytoskeleton
Gene
(JEB-H, JEB-nH) LAMA3 [HSA:3909] [KO:K06240]
(JEB-H, JEB-nH) LAMB3 [HSA:3914] [KO:K06244]
(JEB-H, JEB-nH) LAMC2 [HSA:3918] [KO:K06246]
(JEB-nH) COL17A1 [HSA:1308] [KO:K07603]
(JEB-PA) ITGB4 [HSA:3691] [KO:K06525]
(JEB-PA) ITGA6 [HSA:3655] [KO:K06485]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
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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