GTR Home > Conditions/Phenotypes > Recessive 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.

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Associated genes

Clinical features

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  • Alopecia
  • Anemia
  • Fragile skin
  • Corneal scarring
  • Anonychia
  • Finger syndactyly
  • Atrophic scars
  • Dysphagia
  • Abnormality of the vagina
  • Nail dysplasia
  • Carious teeth
  • Cheilitis
  • Cataract
  • Constipation
  • Mitten deformity
  • Reduced bone mineral density
  • Feeding difficulties in infancy
  • Abnormality of genital physiology
  • Renal insufficiency
  • Nephropathy
  • Narrow mouth
  • Hearing impairment
  • Atresia of the external auditory canal
  • Blepharitis
  • Visual impairment
  • Conjunctivitis
  • Pruritus
  • Milia
  • Abnormality of the fingernails
  • Flexion contracture
  • Growth delay
  • Hypertrophic cardiomyopathy
  • Toe syndactyly
  • Weight loss
  • Esophageal stricture
  • Tracheoesophageal fistula
  • Squamous cell carcinoma
  • Malnutrition
  • Spontaneous esophageal perforation
  • Hypoplasia of dental enamel
  • Abnormal blistering of the skin
  • Neoplasm of the skin
  • Nail dystrophy
  • Ankyloglossia
  • Aplastic/hypoplastic toenail
  • Corneal erosion
  • Skin ulcer
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