Rare Diseases Symptoms Automatic Extraction

Harlequin ichthyosis: report of one case.

[harlequin ichthyosis]

Harlequin ichthyosis, or harlequin fetus, is a relatively rare, severe form of congenital ichthyosis. Although the clinical features have been well described, very little is known about the pathogenesis, clinical course, appropriate treatment and prognosis of harlequin ichthyosis because most of these babies with harlequin ichthyosis die within a few weeks of life. We herein report a case of harlequin ichthyosis, which we believe is the first such case in Taiwan.

Diseases presenting "severe form" symptom

  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • canavan disease
  • child syndrome
  • congenital adrenal hyperplasia
  • dentinogenesis imperfecta
  • dystrophic epidermolysis bullosa
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • harlequin ichthyosis
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • inclusion body myositis
  • kindler syndrome
  • lamellar ichthyosis
  • legionellosis
  • locked-in syndrome
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • papillon-lefèvre syndrome
  • zellweger syndrome

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