somatotrophinoma (growth hormone secreting pituitary tumor)

Epidemiology

rare

Pathology

• defect in Ca+2 homeostasis

Genetics

• autosomal dominant
• associated with defects in GNAS

Clinical manifestations

• extensive dermal ossification during childhood, followed by disabling & widespread heterotopic ossification of skeletal muscle & deep connective tissue

More general terms

• genetic disease of the endocrine system
• metabolic disease

Database

• OMIM: https://mirror.omim.org/entry/166350