Rare Diseases Symptoms Automatic Extraction

Repair of cicatricial ectropion in a harlequin baby.

[harlequin ichthyosis]

The ichthyoses are a collection of scaling skin diseases or keratinizing skin disorders giving the appearance of "fish skin," of which harlequin ichthyosis is the most severe form. It is characterized by profound thickening of the keratin skin layer, armorlike scales that cover the body, and contraction abnormalities of the eyes, ears, and mouth. We report a case of a 6-week-old boy with harlequin ichthyosis and severe bilateral upper and lower eyelid cicatricial ectropion who underwent surgical repair with full-thickness postauricular skin autografts. To our knowledge, this is the youngest reported case and the only case of harlequin ichthyosis in which postauricular skin grafts were used.

Diseases presenting "skin diseases" symptom

  • cutaneous mastocytosis
  • dentinogenesis imperfecta
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • fabry disease
  • harlequin ichthyosis
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • kindler syndrome
  • lamellar ichthyosis
  • oculocutaneous albinism
  • papillon-lefèvre syndrome
  • sneddon syndrome
  • systemic capillary leak syndrome

You can validate or delete this automatically detected symptom