KEGG   DISEASE: Epidermolysis bullosa, hemidesmosomalHelp
Entry
H00585                      Disease                                

Name
Epidermolysis bullosa, hemidesmosomal, including:
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, that is subtype of epidermolysis bullosa simplex.
Category
Skin and connective tissue disease
Brite
Human diseases [BR:br08402]
 Skin diseases
  Skin and soft tissue diseases
   H00585  Epidermolysis bullosa, hemidesmosomal
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G70-G73  Diseases of myoneural junction and muscle
   G71  Primary disorders of muscles
    H00585  Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD)
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q80-Q89  Other congenital malformations
   Q81  Epidermolysis bullosa
    H00585  Epidermolysis bullosa, hemidesmosomal
BRITE hierarchy
Gene
PLEC1 [HSA:5339] [KO:K10388]
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)
DOI:10.1097/MOP.0b013e32833bb74f
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)
DOI:10.1111/j.1749-6632.2010.05463.x
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)
DOI:10.1016/j.clindermatol.2004.09.015
Reference
PMID:20507384 (gene)
  Authors
Sawamura D, Nakano H, Matsuzaki Y
  Title
Overview of epidermolysis bullosa.
  Journal
J Dermatol 37:214-9 (2010)
DOI:10.1111/j.1346-8138.2009.00800.x
Reference
PMID:20507631 (gene)
  Authors
Fine JD
  Title
Inherited epidermolysis bullosa.
  Journal
Orphanet J Rare Dis 5:12 (2010)
DOI:10.1186/1750-1172-5-12

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