epidermolysis bullosa, junctional, Herlitz type

Introduction

a group of blistering skin diseases

Pathology

• tissue separation occurs within the dermo-epidermal basement membrane

Genetics

• associated with defects in LAMA3 & LAMB3
  • spontaneous reversion to normal phenotype by spontaneous correcting mutation reported
• mutations found in COL17A1 gene

Clinical manifestations

• severe, infantile & lethal form of epidermolysis bullosa
• death generally occurs within the first 6 months of life
• occasionally, children survive to teens
• marked by bullous lesions at birth
• extensive denudation of skin & mucous membranes that may be hemorrhagic

Laboratory

• LAMA3 gene mutation
• LAMB3 gene mutation

More general terms

• epidermolysis bullosa, junctional

Additional terms

• collagen 17 alpha-1; bullous pemphigoid antigen 2 (COL17A1, BPAG2, BP180)

Database

• OMIM: https://mirror.omim.org/entry/226700
• OMIM: https://mirror.omim.org/entry/226650
• OMIM: https://mirror.omim.org/entry/600805