Rare Diseases Symptoms Automatic Extraction

Harlequin ichthyosis: a case study.

[harlequin ichthyosis]

The most severe manifestation of congenital ichthyosis presents itself in the form known as harlequin ichthyosis. Harlequin ichthyosis is characterized by a profound thickening of the fetal skin. Affected infants are born with a thick "horny shell" of dense, waxy, platelike scales with deep, irregular fissures covering the body. Contraction of the extremities is seen, along with deformities of the ears, eyes, mouth, and digits. This "armor" limits movement and compromises the skin's barrier defense, leaving the newborn at risk for metabolic abnormalities and infection. A case study of our unit's experience is provided.

Diseases presenting "ichthyosis" symptom

  • child syndrome
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • harlequin ichthyosis
  • hirschsprung disease
  • junctional epidermolysis bullosa
  • kallmann syndrome
  • lamellar ichthyosis

This symptom has already been validated