epidermolysis bullosa simplex, Dowling-Meara type; epidermolysis bullosa herpetiformis, Dowling-Meara type (EBS-DM)

Pathology

• large cytoplasmic clumps of keratin containing tonofilaments by electron microscopy

Genetics

• associated with defects in KRT5, KRT14

Clinical manifestations

• severe form of intraepidermal epidermolysis bullosa
  • more severe than the mild localized Weber-Cockayne type EBS or generalized Koebner type EBS
• generalized herpetiform blistering
• milia formation
• dystrophic nails
• mucous membrane involvement

More general terms

• epidermolysis bullosa simplex (EBS)

Database

• OMIM: https://mirror.omim.org/entry/131760