| H00586 | |
| H number | H00586 |
| Name | Epidermolysis bullosa, junctional |
| 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 | Congenital malformation |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC31 ICD-10: Q81 MeSH: D016109 OMIM: 226700 226650 226730 |
| Reference | PMID:20616732 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 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 PMID:15708287 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 PMID:20507384 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 PMID:20507631 AUTHORS Fine JD TITLE Inherited epidermolysis bullosa. JOURNAL Orphanet J Rare Dis 5:12 (2010) DOI:10.1186/1750-1172-5-12 |