Search
epidermolysis bullosa lethal acantholytic (EBLA)
Pathology:
- histopathology of the skin shows suprabasal clefting & acantholysis throughout the spinous layer, mimicking pemphigus
Genetics:
- associated with defects in DSP
Clinical manifestations:
- severe fragility of skin & mucous membranes
- phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss
- universal alopecia
- neonatal teeth, & nail loss
General
epidermolysis bullosa
Database Correlations
OMIM 609638
References
OMIM :accession 609638