Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation

Clinical Features

In an inbred North-Swedish family, Jagell et al. (1987) found an ichthyosis-mental retardation syndrome apparently distinct from the Sjogren-Larsson syndrome (SLS; 270200), which is unusually frequent in the same area. The disorder differed from SLS by the presence of alopecia, eclabium, and ectropion and by the absence of spastic diplegia or other neurologic changes and of glistening dots in the fundus of the eye typical of SLS. Although patients in the present study were originally included in the series of Sjogren and Larsson (1957), Jagell et al. (1987) could find no genealogic connection between these patients and SLS patients published by Sjogren and Larsson in studies going back to 1700.

Inheritance

Autosomal recessive inheritance seemed clear in the patients reported by Jagell et al. (1987); 2 brothers and an aunt and uncle were affected and all 4 parents of the affected sibships shared at least one common ancestral couple.