Sporadic hypomelanosis of Ito with focal hypertrichosis in a 16-month-old girl

Dermatology. 1996;193(1):63-4. doi: 10.1159/000246207.


We report the case of a 16-month-old girl with hypomelanosis of Ito, a relatively rare phenotype associated with neurocutaneous manifestations. The characteristic hypopigmented streaks along the Blaschko lines were associated with hypertrichosis of the genitals and shins, as well as musculoskeletal and dental anomalies. An underlying endocrinologic disorder of the hypertrichosis could be excluded. This presumes focal hypertrichosis as another phenotypic expression of mosaicism in this disease.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Diagnosis, Differential
  • Female
  • Humans
  • Hypertrichosis / complications*
  • Hypertrichosis / diagnosis
  • Hypertrichosis / physiopathology
  • Infant
  • Mosaicism
  • Musculoskeletal Abnormalities*
  • Pigmentation Disorders / complications*
  • Pigmentation Disorders / diagnosis
  • Pigmentation Disorders / genetics*