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 "first year" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • alpha-thalassemia
  • aniridia
  • benign recurrent intrahepatic cholestasis
  • child syndrome
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cowden syndrome
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • gm1 gangliosidosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • krabbe disease
  • lymphangioleiomyomatosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • neonatal adrenoleukodystrophy
  • phenylketonuria
  • pleomorphic liposarcoma
  • pyruvate dehydrogenase deficiency
  • severe combined immunodeficiency
  • sneddon syndrome
  • waldenström macroglobulinemia
  • wolf-hirschhorn syndrome

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