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lethal acantholytic epidermolysis bullosa

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.
Uniprot Description A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus.
Mondo Term and Equivalent IDs
MONDO:0012323:  lethal acantholytic epidermolysis bullosa
GARD:0009910: 
MESH:C535493: 
Orphanet:158687: 
UMLS:C1864826: