epidermolysis bullosa lethal acantholytic (EBLA)
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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