More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities

Lymphat Res Biol. 2008;6(1):39-44. doi: 10.1089/lrb.2007.1020.

Abstract

Consanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection among them.

MeSH terms

  • Abnormalities, Multiple* / pathology
  • Abnormalities, Multiple* / surgery
  • Axilla / pathology
  • Axilla / surgery
  • Congenital Hypothyroidism / complications
  • Consanguinity
  • Humans
  • Hydrocephalus / complications
  • Ichthyosis, Lamellar / complications*
  • Infant
  • Lymphatic Abnormalities / complications
  • Lymphatic Abnormalities / pathology*
  • Lymphatic Abnormalities / surgery
  • Male
  • Mutation
  • Postoperative Complications
  • Pseudomonas Infections
  • Staphylococcal Infections
  • Syringomyelia / complications
  • Syringomyelia / congenital
  • Thoracic Wall / pathology
  • Thoracic Wall / surgery
  • Transglutaminases / genetics
  • Ureteral Diseases / complications
  • Ureteral Diseases / congenital

Substances

  • Transglutaminases
  • transglutaminase 1