In vivo confocal microscopy of the cornea in Darier-White disease.

Darier-White disease (also known as Darier disease or keratosis follicularis spinulosa decalvans) is a rare dominantly inherited skin disorder characterized by firm, scaly, cutaneous papules and plaques distributed over various regions of the body. Histopathologic and electron microscopic studies of biopsied skin specimens have revealed a loss of cell to cell adhesion and abnormal differentiation of the epidermis. Ocular involvement in DarierWhite disease has been observed, with eyelid and corneal abnormalities being reported. To date, however, examination of corneal abnormalities in Darier-White disease has been limited to slitlamp observation and microscopic examination of superficial peripheral biopsy samples in cases with confirmed corneal abnormalities. In this article we use in vivo confocal microscopy to describe the general corneal morphological features present in 5 members (4 affected and 1 unaffected) of a 5-generation, 32member, Swedish family with DarierWhite disease, 15 of whom are affected. All 5 individuals had good vision without ocular symptoms or history of contact lens wear, and no corneal abnormalities were apparent on slitlamp examination. Using in vivo laser-scanning confocal microscopy (HRT3-RCM; Heidelberg Engineering, Heidelberg, Germany), irregularities in the epithelium, nerves, and anterior stroma were observed in all affected individuals. Documenting corneal abnormalities that, on occasion, have been associated with severe photophobia and corneal clouding may be useful in elucidating the pathogenesis of corneal changes in this rare disease.