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Metadata
DOID DOID:0060737
Name junctional epidermolysis bullosa Herlitz type
Definition A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.
https://www.ncbi.nlm.nih.gov/pubmed/18374450, https://www.ncbi.nlm.nih.gov/pubmed/8012393, https://www.ncbi.nlm.nih.gov/pubmed/8586427
Synonyms

epidermolysis bullosa letalis [EXACT]

Herlitz type epidermolysis bullosa junctionalis [EXACT]

Herlitz-Pearson-type epidermolysis bullosa [EXACT]

JEB-H [EXACT]

JEB-Herlitz type [EXACT]

junctional epidermolysis bullosa generalisata gravis [EXACT]

junctional epidermolysis bullosa, Herlitz-Pearson type [EXACT]

Xrefs

ICD10CM:Q81.1

OMIM:226700

ORDO:79404

Relationships

is_a junctional epidermolysis bullosa

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