Trichothiodystrophy associated with urologic malformation and primary hypercalciuria

Pediatr Dermatol. Nov-Dec 1997;14(6):441-5. doi: 10.1111/j.1525-1470.1997.tb00685.x.


Trichothiodystrophy (TTD) is a hair abnormality that may be associated with a large number of alterations affecting the skin phenotype and skin appendages, nervous system, eyes, bones, and immune, gonadal, and endocrine systems. We report the first case of TTD associated with a urologic malformation and primary hypercalciuria. Our patient had congenital ichthyosis, physical and mental retardation, and a dysmorphic facies associated with a complex urologic malformation and primary hypercalciuria. Characteristic features of his hair under microscopic examination (trichoschisis, alternating light and dark bands under polarizing microscopy, and a severely defective cuticle) and low sulfur content by radiographic microanalysis confirmed the diagnosis. We discuss the meaning of this new association in the spectrum of abnormalities related to TTD.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / physiopathology
  • Adult
  • Calcium / metabolism
  • Calcium / urine*
  • Hair / abnormalities*
  • Hair / ultrastructure
  • Humans
  • Ichthyosis / diagnosis*
  • Intellectual Disability
  • Male
  • Microscopy, Electron, Scanning
  • Urinary Tract / abnormalities*
  • Urologic Diseases / diagnosis*
  • Urologic Diseases / genetics


  • Calcium