Rare Diseases Symptoms Automatic Extraction

Evaluation and treatment of the newborn with epidermolysis bullosa.

[junctional epidermolysis bullosa]

Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin diseases characterized by increased skin fragility and variable degrees of extracutaneous involvement. The clinical spectrum ranges from localized skin disease to a life-threatening and disabling disease with extensive extracutaneous involvement. All four major types of EB, namely EB simplex, Junctional EB, Dystrophic EB and Kindler syndrome, can present with blistering and erosions at birth and cannot be distinguished clinically in the newborn period. The extensive differential diagnosis of blistering and erosions in the neonate must be considered and common etiologies ruled out. The diagnosis of EB can be confirmed via a skin biopsy for immunoflourescence mapping. This review discusses the four major subtypes of EB and their associated extracutaneous features. The evaluation of a newborn suspected of having EB, including diagnosis and management, is also reviewed.

Diseases presenting "skin biopsy" symptom

  • adrenomyeloneuropathy
  • cadasil
  • cutaneous mastocytosis
  • dentinogenesis imperfecta
  • dracunculiasis
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • fabry disease
  • harlequin ichthyosis
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • kindler syndrome
  • lamellar ichthyosis
  • malignant atrophic papulosis
  • monosomy 21
  • oligodontia
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • waldenström macroglobulinemia
  • x-linked adrenoleukodystrophy

You can validate or delete this automatically detected symptom