Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man

Am J Med Genet. 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f.


The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 males so far. We report on a man with congenital ichthyosis and alopecia with apparently normal development in early infancy. Photophobia and generalized myoclonicastatic seizures began during or after the first year of age and were associated with progressive impairment of motor skills and mental abilities. He died at 33 years of age. Neuropathological findings showed an unusual deformation of the temporal lobes and olivocerebellar atrophy. Cytogenetic and molecular studies did not uncover deletions in either Xp22.2 to 3 or in Xq27.3 to qter.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Alopecia / congenital*
  • Blindness
  • Brain / pathology
  • Diagnosis, Differential
  • Fatal Outcome
  • Humans
  • Ichthyosis*
  • Ichthyosis, X-Linked
  • Infant, Newborn
  • Intellectual Disability
  • Light
  • Magnetic Resonance Imaging
  • Male
  • Psychomotor Disorders
  • Seizures
  • Syndrome
  • Vision Disorders*