Rare Diseases Symptoms Automatic Extraction

Chronic leg ulcers as a rare cause for the first diagnosis of epidermolysis bullosa dystrophica.

[dystrophic epidermolysis bullosa]

Chronic leg ulcers occur most frequently in the elderly population as a result of an underlying vascular disease especially chronic venous insufficiency. But it also occurs less commonly in younger people due to other aetiologies, for example, infections, vasculitis, neoplasia or genetic diseases. The following case report presents chronic leg ulcers as a rare cause for the first diagnosis of dystrophic epidermolysis bullosa. We report about a 21-year-old man with painful chronic leg ulcers resistant to different wound treatments for 4 months. After exclusion of the more common vascular aetiologies and reviewing the patient's family history, we considered an epidermolysis bullosa dystrophica which could be confirmed by genetic analyses. We treated the patient with debridement, modified negative pressure therapy with non-adhesive foil and skin grafting. The chronic leg ulcers healed completely. This case report demonstrates that the family history and genetic diseases should be considered as rare causes for therapy-refractory chronic leg ulcers, especially in young patients.

Diseases presenting "vascular disease" symptom

  • cadasil
  • dystrophic epidermolysis bullosa
  • erdheim-chester disease
  • fabry disease
  • focal myositis
  • liposarcoma
  • malignant atrophic papulosis
  • sneddon syndrome

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