Rare Diseases Symptoms Automatic Extraction

Three-dimensional sonographic findings in congenital (harlequin) ichthyosis.

[harlequin ichthyosis]

Harlequin ichthyosis is a lethal autosomal recessive disorder characterized by an extremely thickened keratin layer of skin, flattened ears, and diffuse platelike scales. Prenatal sonographic diagnosis has been described, with findings of a persistently open mouth, echogenic amniotic fluid, and fixed flexion of the extremities. Here we describe a case of harlequin ichthyosis in which the syndromic features were shown best on three-dimensional (3D) and four-dimensional (4D) real-time sonography.

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