Pseudohypoparathyroidism with osteitis fibrosa
cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone.
characterized by osteitis fibrosa
disseminata, areas of pigmentation and
Martell, underwent six prior unsuccessful cervical explorations and had severe osteitis fibrosa
cystica until the ectopic gland was removed by a transsternal approach (1).
The features of uremia include fatigue, lethargy, somnolence, coma, anorexia, nausea, vomiting, hematemesis, gastric ulcers, diarrhea, dysentery, cardiac failure, pericarditis, cardiomyopathy, edema, hypertension, pleuritis, pulmonary edema, pulmonary hemorrhage, anemia, thrombasthenia, purpura, rickets, osteomalacia, osteitis fibrosa
, pruritis, and peripheral neuropathy.
In addition to osteomalacia, this patient likely had osteitis fibrosa
cystica or brown tumor changes on the basis of high PTH concentrations, which may have existed for a long time and are frequently associated with bone pain.
The brown tumor also known as osteitis fibrosa
cystica or Von Recklinghausen's disease of bone is a reactive nonneoplastic giant cell lesion associated with hyperparathyroidism.
High doses of calcitriol and maternal hypercalcemia have contributed to maternal hypercalciuria, nephrolithiasis, renal impairment, and neonatal seizures in addition to life-threatening complications (such as craniofacial abnormalities, supravalvular aortic stenosis, other fetal malformations, and even teratogenicity) in animal studies, secondary to suppression of fetal parathyroid glands whereas inadequate vitamin D supplementation has led to reactive fetal hyperparathyroidism with intracranial bleed, rickets, skeletal demineralization, subperiostal bone resorption, osteitis fibrosa
cystica, and subsequent intrauterine fractures [1, 2, 5].
Patients rarely present with classically advanced symptoms of hyperparathyroidism such as osteitis fibrosa
cystica and lytic lesions, called brown tumors.
(3) Osteitis fibrosa
is a constellation of osteolytic lesions, cortical thinning, and coarsened trabeculation.
Syndrome characterized by osteitis fibrosa
disseminata, areas of pigmentation and endocrine dysfunction with precocious puberty in females.
Tumor suppressor gene mutation in a patient with a history of hyperparathyroidism-jaw tumor syndrome and healed generalized osteitis fibrosa
cystica: A case report and genetic pathophysiology review.