Parathyroid Hormone Hyporesponsiveness in Patients with Basal-Cell Nevi and Bone Defects

Abstract

A RARE syndrome consisting of basal-cell nevi§ and bone defects — namely, mandibular cysts and rib abnormalities^{1 2 3 4} — has been described. Hypertelorism, mental changes, agenesis of the corpus callosum, scoliosis, gonadal dysplasia, epithelial cysts, milia and dyskeratoses of the palms and soles have been reported as associated findings in one or more cases.No studies of calcium and phosphorus metabolism have been made in these patients. Such studies seemed in order when 1 such patient exhibited certain clinical similarities to patients with pseudohypoparathyroidism. This report concerns our findings in 2 of these patients.Case ReportCase 1. A 49-year-old woman had . . .