Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities

K Devriendt; J van den Oord; R De Vos; H Van den Berghe; J P Fryns

doi:10.1002/(SICI)1096-8628(19960111)61:2<127::AID-AJMG4>3.0.CO;2-U

Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities

Am J Med Genet. 1996 Jan 11;61(2):127-30. doi: 10.1002/(SICI)1096-8628(19960111)61:2<127::AID-AJMG4>3.0.CO;2-U.

Authors

K Devriendt¹, J van den Oord, R De Vos, H Van den Berghe, J P Fryns

Affiliation

¹ Center for Human Genetics, University Hospital Leuven, Belgium.

PMID: 8669437
DOI: 10.1002/(SICI)1096-8628(19960111)61:2<127::AID-AJMG4>3.0.CO;2-U

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis*
Child, Preschool
Cleft Palate / diagnosis
Humans
Ichthyosis / diagnosis*
Intellectual Disability / diagnosis
Male
Skin / anatomy & histology
Skin Abnormalities*
Syndrome