Rare Diseases Symptoms Automatic Extraction

A child with laryngo-onychocutaneous syndrome partially responsive to treatment with thalidomide.

[junctional epidermolysis bullosa]

Laryngo-onychocutaneous syndrome (LOCS) is a condition characterized by erosive or ulcerative skin lesions associated with excessive granulation tissue, at sites of trauma such as the digits, elbows and knees. Similar lesions can occur within the conjunctival mucosa, leading to corneal scarring and blindness. The main complications, however, occur in the respiratory tract, where a similar process of erosions and subsequent formation of granulation tissue causes airway obstruction which may lead to premature death. LOCS is now believed to be a nonblistering variant of junctional epidermolysis bullosa and to date there are no efficacious treatments available. We report a 16-year-old girl with LOCS who failed to respond to methylprednisolone and cyclophosphamide, but had a partial response to oral thalidomide with marked decrease in granulation tissue and tracheal secretions. Interruption of treatment resulted in prompt resurgence of the granulation tissue which was again controlled by reintroduction of thalidomide. We propose that in the absence of effective therapies for LOCS, a trial of thalidomide in these patients should be considered.

Diseases presenting "skin lesions" symptom

  • child syndrome
  • cowden syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • familial mediterranean fever
  • focal myositis
  • gm1 gangliosidosis
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • junctional epidermolysis bullosa
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • oligodontia
  • omenn syndrome
  • papillon-lefèvre syndrome
  • primary effusion lymphoma
  • proteus syndrome
  • severe combined immunodeficiency
  • sneddon syndrome
  • waldenström macroglobulinemia
  • werner syndrome
  • wiskott-aldrich syndrome

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