Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma

Clinical Features

Rosenthal and Kloepfer (1962) described a 'new' syndrome with these three features in 13 persons of 4 generations of a Louisiana black family. Through the courtesy of Kloepfer, McKusick (1971) examined affected members of this family. The corneal leukoma is an epithelial change. The hands, feet, and chin are very large, and the affected persons unusually tall. Although growth hormone assays had not been done, other endocrine studies and x-ray views of the sella turcica gave no indication of pituitary dysfunction. One of the affected females examined had 9 living children. The skin of the hands is unusually soft and has an abnormal dermal ridge pattern, referred to as 'split ridges,' which permits identification of the disorder in children of preclinical age. A possible difference from the usual cutis verticis gyrata is a longitudinal orientation of the skin folds rather than transverse orientation. X-ray features were reported by Harbison and Nice (1971).