| Entry |
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| 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)
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| 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.
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| Category |
Skin and connective tissue disease
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| Pathway |
| Focal adhesion | | ECM-receptor interaction |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Fine JD |
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| Title |
Inherited epidermolysis bullosa: recent basic and clinical advances. |
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| Journal |
Curr Opin Pediatr 22:453-8 (2010) |
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| Reference |
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| Authors |
Fine JD |
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| Title |
Inherited epidermolysis bullosa: past, present, and future. |
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| Journal |
Ann N Y Acad Sci 1194:213-22 (2010) |
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| Reference |
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| Authors |
Uitto J, Richard G |
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| Title |
Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. |
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| Journal |
Clin Dermatol 23:33-40 (2005) |
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| Reference |
|
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| Authors |
Sawamura D, Nakano H, Matsuzaki Y |
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| Title |
Overview of epidermolysis bullosa. |
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| Journal |
J Dermatol 37:214-9 (2010) |
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| Reference |
|
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| Authors |
Fine JD |
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| Title |
Inherited epidermolysis bullosa. |
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| Journal |
Orphanet J Rare Dis 5:12 (2010) |
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