Ocular involvement in keratosis follicularis associated with retinitis pigmentosa. Clinicopathological case report.

In 1988, Itin et al. published the combination of keratosis follicularis (KF; Darier-White disease), an autosomal-dominantly transmitted genodermatosis, and retinitis pigmentosa (RP) in two brothers. One of these patients died unexpectedly at the age of 54 years. His eyelids and globes were histologically studied post mortem. Involvement of the eyelids has rarely been described clinically and not at all histologically. The skin and the intermarginal zone of the lids exhibited the typical changes of this cutaneous disease involving the follicles of the eyelashes. Focal keratinizations of the limbal conjunctiva, a regional increase in conjunctival goblet cells and a diffuse thickening of the basement membrane of the corneal epithelium were present. They are probably not specific for KF. The retinal findings were those of a typical late stage of RP. The combination of both genetically transmitted disorders could point to a damage in neighbouring gene loci. An abnormality of the metabolism of vitamin A was supposed to play a pathogenetic role in both diseases but remains speculative, as does a genetic linkage.