GTR Home > Conditions/Phenotypes > Dystrophic epidermolysis bullosa

Disease characteristics

Excerpted from the GeneReview: Dystrophic Epidermolysis Bullosa
Based on the most recent classification system, dystrophic epidermolysis bullosa (DEB) includes three subtypes: Recessive DEB, severe generalized (RDEB-sev gen) (formerly called Hallopeau-Siemens type (RDEB-HS). Recessive DEB, generalized other (RDEB-O) (formerly called non-Hallopeau-Siemens type (RDEB-non-HS). Dominant DEB (DDEB) . In RDEB-sev gen, blisters affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, severe nutritional deficiency and secondary problems are common. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, a hallmark of this disorder. The lifetime risk of aggressive squamous cell carcinoma is over 90%. In contrast, the blistering in the less severe forms of RDEB-O may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the severe, mutilating scarring seen in RDEB-sev gen. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.

Available tests

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Associated genes

Clinical features

  • Anemia
  • Hypopigmented skin patches
  • Atrophic scars
  • Nail dysplasia
  • Carious teeth
  • Cheilitis
  • Feeding difficulties in infancy
  • Abnormality of the urethra
  • Milia
  • Abnormality of the fingernails
  • Tracheoesophageal fistula
  • Abnormal blistering of the skin
  • Abnormality of the toenail
  • Nail dystrophy
  • Corneal erosion
  • Abnormal renal physiology
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