Rare Diseases Symptoms Automatic Extraction

A review of harlequin ichthyosis.

[harlequin ichthyosis]

Harlequin ichthyosis is an extremely rare and historically lethal congenital disorder of the skin caused by abnormal keratinization. This article reviews the embryology and currently understood pathophysiology of the disease, as well as current methods used to diagnose and treat these infants. There are serious implications for the family to consider: the high risk that their newborn will die soon, as well as future family planning issues.

Diseases presenting "high risk" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • adrenal incidentaloma
  • alpha-thalassemia
  • aniridia
  • canavan disease
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • harlequin ichthyosis
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • krabbe disease
  • legionellosis
  • liposarcoma
  • locked-in syndrome
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • pendred syndrome
  • phenylketonuria
  • primary hyperoxaluria type 1
  • severe combined immunodeficiency
  • sneddon syndrome
  • waldenström macroglobulinemia
  • werner syndrome

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