Rare Diseases Symptoms Automatic Extraction

Ichthyosis in the newborn.

[lamellar ichthyosis]

The ichthyoses encompass a variety of genetic disorders marked by abnormal epidermal differentiation. The neonatal period is critical for patients with ichthyosis because of the risk for significant associated morbidity and mortality, with the majority of complications arising as a result of impaired barrier function. This article reviews presentations of ichthyosis in the neonate, outlines risks and complications, and provides strategies for management.

Diseases presenting "neonatal period" symptom

  • alexander disease
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cutaneous mastocytosis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • harlequin ichthyosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • pyruvate dehydrogenase deficiency
  • zellweger syndrome

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