Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
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.
Keyvani
K
K
Department of Neuropathology, Friedrich Alexander Universität Erlangen-Nürnberg, Erlangen, Germany.
Paulus
W
W
Traupe
H
H
Kiesewetter
F
F
Cursiefen
C
C
Huk
W
W
Raab
K
K
Orth
U
U
Rauch
A
A
Pfeiffer
R A
RA
D000015:Abnormalities, Multiple; D000505:Alopecia / Q000151:congenital*; D001766:Blindness; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D007057:Ichthyosis; D016114:Ichthyosis, X-Linked; D007231:Infant, Newborn; D008607:Intellectual Disability; D008027:Light; D008279:Magnetic Resonance Imaging; D008297:Male; D011596:Psychomotor Disorders; D012640:Seizures; D013577:Syndrome; D014786:Vision Disorders