Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities.
In this report, we describe a 2.5-year-old severely mentally retarded boy with peculiar appearance and generalized ichthyosis, born to consanguineous Turkish parents. The histological finding in the skin biopsy of unusually large oval keratohyalin granules in the granular cells is unique, and hitherto has not been reported in other ichthyosis-mental retardation syndromes.
Devriendt
K
K
Center for Human Genetics, University Hospital Leuven, Belgium.
van den Oord
J
J
De Vos
R
R
Van den Berghe
H
H
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D002972:Cleft Palate / Q000175:diagnosis; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis*; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D012867:Skin / Q000033:anatomy & histology; D012868:Skin Abnormalities; D013577:Syndrome