Rare Diseases Symptoms Automatic Extraction

Bullous dermolysis of the newborn: four new cases and clinical review.

[dystrophic epidermolysis bullosa]

Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa caused by mutations in type VII collagen resulting in disorganized anchoring fibrils and sublamina densa blister formation. Disease activity is usually confined to the first year of life, with restoration of physiologic type VII collagen localization. We report four new cases of BDN and review the utility of immunofluorescence mapping in establishing the diagnosis.

Diseases presenting "mutations in type vii collagen resulting in disorganized anchoring fibrils" symptom

  • dystrophic epidermolysis bullosa

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