Rare Diseases Symptoms Automatic Extraction

De novo deletion of chromosome 18q in a baby with harlequin ichthyosis.

[harlequin ichthyosis]

Harlequin ichthyosis, (MIM 242500), is a rare, autosomal recessive skin disorder due to an inborn error of epidermal keratinization. The gene for this condition has not been localized. We present a case of HI in which there was a de novo deletion of chromosome 18q: the karyotype was 46, XY, del(18)(q21.3). We postulate that the gene for HI may lie at, or distal to 18q21.3 and that the deletion observed in this case may have unmasked this autosomal recessive disorder.

Diseases presenting "skin disorder" symptom

  • aniridia
  • congenital adrenal hyperplasia
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • harlequin ichthyosis
  • junctional epidermolysis bullosa
  • kindler syndrome
  • lamellar ichthyosis

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