Adult from of basal cell navevus syndrome: A family study

Abstract

A 32-year-old patient had marked reduction of visual acuity due to falciform folds of the retina and retinal detachment, and severe neurological abnormality: bilateral pyramidal involvement, fasciculation in all limbs and gait ataxia. Skull radiographs showed internal frontal hyperostosis; CT scan showed calcification of the falx cerebri, and multiple arachnoid cysts were shown by myelography. A naevoid lesion had previously been removed from the left forearm. There was a history of ophthalmological symptoms in the mother and the daughter of the propositus. His son has "café au lait" spot on the abdomen and dentigerous cysts. The diagnosis of an adult form of basal cell naevus syndrome with an autosomal dominant mode of inheritance is discussed.

Review of ocular manifestations of nevoid basal cell carcinoma syndrome: What an ophthalmologist needs to know

“…Episodic case reports have also been made linking NBCCS with retinal anomalies. Bilateral retinal detachments due to multiple retinal fibrotic falciform folds 22 and a limited retinal detachment associated with two peripheral retinal holes, a tear, and retinoschisis all in the same eye have been reported. 23 Though there is no definitive proof that Gorlin syndrome is the cause of these findings, the vitreous may be selectively affected in NBCCS due to the mesodermal origin and large proportion of collagen.…”

Nevoid Basal-Cell Syndrome: literature review and case report in a family

“…In literature there are descriptions of NBCC cases in families of many different ethnic backgrounds (3,11,17).…”