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Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

What is Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form?

A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

Other condition names

  • Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
  • Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
  • RDEB generalisata gravis
  • RDEB, Hallopeau-Siemens type
  • RDEB-sev gen
  • Severe generalized RDEB

Inheritance type

Autosomal recessive

Prevalence

  • United States: <1 in 1,000 000

Age of Onset

  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.