Rare Diseases Symptoms Automatic Extraction

Care of the newborn with ichthyosis.

[harlequin ichthyosis]

Mendelian disorders of cornification (ichthyosis; MeDOC) often present in the neonatal period with little warning to providers or parents. This report reviews the majority of ichthyoses with congenital findings. The neonatal presentation of many MeDOC often differs from the later phenotype because of the changes in the skin that occur with transition from an intrauterine to extrauterine environment. While differentiation of ichthyosis subtypes in the neonatal period is difficult, there are certain phenotypic groups within which these neonates fall, recognition of which can guide initial work up and treatment. For this report, these are categorized as: exuberant vernix; collodion baby/harlequin ichthyosis (HI); ichthyosiform erythroderma; blistering; and normal skin/xerosis phenotypes.

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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