Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Epidermolysis Bullosa
Preferred term
Epidermolysis Bullosa, Junctional
Type
-
Topical Descriptor
Broader concept
Entry terms
- Epidermolysis Bullosa, Generalized Atrophic Benign
- Epidermolysis Bullosa Junctionalis, Disentis Type
- Epidermolysis Bullosa Junctionalis, Severe Nonlethal
- Junctional Epidermolysis Bullosa
Scope note
- Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.
History note
- 91; HERLITZ DISEASE was HERLITZ'S DISEASE 1991-92
In other languages
-
Finnish
-
epidermolysis bullosa junctionalis
-
epidermolysis bullosa letalis
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Herlitz
-
Herlitzin oireyhtymä
-
Herlitzin syndrooma
-
junktionaalinen epidermolysis bullosa
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kuolemaan johtava epidermolysis bullosa
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syndroma Herlitz
-
Swedish
URI
http://www.yso.fi/onto/mesh/D016109
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