Late-Onset Subcutaneous Scalp Calcifications in a Patient with Pseudo-Pseudohypoparathyroidism

Abstract

Ectopic calcifications and even bone formation have been linked to GNAS gene mutations. A 51-year-old Caucasian female had been diagnosed of pseudo-pseudohypoparathyroidism (PPHP) in 1989. She has always had normal serum parathyroid hormone, calcium, and phosphorus levels. A non-contrast computed tomography of the head was done in 2013 and it showed finely speckled subcutaneous calcifications in the high convexity of the head. Cutaneous exploration did not show any abnormality. We herein report an unusual case of late-onset scalp calcifications in a patient with PPHP.

Overexpressed miR‐196a accelerates osteogenic differentiation in osteoporotic mice via GNAS‐dependent Hedgehog signaling pathway

“…GNAS activating mutation is due to fibrous dysplasia of bone, consequently leading to notable changes in the skeletal progenitors . Moreover, GNAS‐mut also contributes to both ectopic calcifications and bone formation . Inactivation of the Hedgehog signaling pathway is a key player in attenuating cell differentiation in multipotent BMSCs .…”

“…12 Moreover, GNAS-mut also contributes to both ectopic calcifications and bone formation. 13 Inactivation of the Hedgehog signaling pathway is a key player in attenuating cell differentiation in multipotent BMSCs. 14 The Hedgehog signaling pathway aids in regulating bone metabolism in OP through modulating osteoblast differentiation and proliferation.…”