junctional epidermolysis bullosa Herlitz type

Term ID

DOID:0060737

Synonyms

• epidermolysis bullosa letalis
• Herlitz type epidermolysis bullosa junctionalis
• Herlitz-Pearson-type epidermolysis bullosa
• JEB-H
• JEB-Herlitz type
• junctional epidermolysis bullosa generalisata gravis
• junctional epidermolysis bullosa, Herlitz-Pearson 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. (3)

References

• ICD10CM:Q81.1
• MIM:226700
• ORDO:79404

Ontology

Human Disease   ( DOID:0060737 )