Rare Diseases Symptoms Automatic Extraction

Epidermolysis bullosa pruriginosa: a rare presentation with asymptomatic lesions.

[dystrophic epidermolysis bullosa]

Epidermolysis bullosa pruriginosa (EBP) is a subtype of dominant dystrophic epidermolysis bullosa (DDEB) and is clinically characterized by pruritic lichenified plaques or prurigo-like lesions with violaceous linear scarring. Pruritus has always been described as one of the most striking features in EBP. Mutations in COL7A gene, especially in the glycine residue, have been shown to cause this form of DDEB. In this report, we describe a north Indian familial clustering of three cases of EBP, spread across two generations, presenting with hypertrophic lichenoid cutaneous lesions, which were completely asymptomatic. Clinical and histopathological analysis favored the diagnosis of EBP in all three cases. They are being reported for their unusual asymptomatic presentation.

Diseases presenting "cutaneous lesions" symptom

  • child syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dystrophic epidermolysis bullosa
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • inclusion body myositis
  • lamellar ichthyosis
  • malignant atrophic papulosis
  • papillon-lefèvre syndrome
  • systemic capillary leak syndrome

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