My Orthopaedic Surgeon

Also known as: von Recklinhausen disease II von Recklinghausen’s disease of bone Associated persons: Gerhard Engel Friedrich Daniel von Recklinghausen Description: Now mostly historical term for a generalized rarefying bone disorder with skeletal deformation, seen in advanced hyperparathyroidism. It is characterized by cysts or brown tumours in the form of deeply pigmented foci consisting of fibrous scarring of the bone with pseudocysts, haemorrhages, and collection of osteoclasts. There is arthralgia, fractures, bowing of long bones and often gross deformities of the spine and chest.

Wheeless' Textbook of Orthopaedics Discussion: - a disorder which is caused by excessive production of parathyroid hormone which leads to hypercalcemia, recurrent nephrolithiasis, pancreatitis, peptic ulcers, and mental changes; - incidence of approx 5 /10,000 pts per year; - usually affects adults over 50 yrs & occurs more commonly in females; - causes: - in most cases is due to single parathyroid adenoma (80% of patients); - malignant tumor: occurs in about 1% of patients with hyperparathyroidism; - occurs often in association w/ multiple endocrine neoplasia syndrome, and rarely to parathyroid carcinoma; - hyperparathyoidism is sometimes seen in renal cell carcinoma and squamous cell carcinoma

"WHAT: Hyperparathyroidism. Hyperparathyroidism: a condition due to an increase in the secretion of the parathyroids, causing generalized osteitis fibrosa cystica, elevated serum calcium, decreased serum phosphorus, and increased excretion of both calcium and phosphorus. WHY: Several rheumatological disorders are associated with hyperpara- thyroidism. First, hyperuricemia and gouty arthritis (which may mimic hyperparathyroidism with renal stone formation and colic) have an increased incidence in patients with hyperparathyroidism. Second, patients with primary hyperparathyroidism show an increased incidence of chondrocalcinosis with episodes of calcium pyrophosphate crystal induced synovitis. Approximately 25% of patients with hyperparathyroidism will show radiographic evidence of calcification of articular cartilage and joint capsules. Finally, there can be a synovial and cartilaginous lesion ("osteogenic synovitis") in patients with hyperparathyroidism which may mimic other primary rheumatic diseases such as rheumatoid arthritis. In osteogenic synovitis there is softening and collapse of subchondral bone. Eventually the cartilage overlying this area erodes and is replaced by an irregular fibrocartilage. Eventually the articular surface of the joint is destroyed and secondary degenerative arthritis may develop. 3 synonyms or equivalents were found. Hyperparathyroidism aka/or Parathyroid hormone levels raised (plasma or serum) aka/or Hyperparathyroid may be caused by or feature of Endocrine conditions Hyperparathyroidism, primary Hyperparathyroidism, secondary Hyperparathyroidism, tertiary may cause or feature Biochemical abnormalities Alkaline phosphatase bone isoenzyme levels raised (plasma or serum) Hypercalcaemia Hypomagnesemia Hypophosphataemia Sodium levels low (urine) X-ray abnormalities Osteosclerosis Inflammatory conditions Osteitis fibrosa cystica

a disorder which is caused by excessive production of parathyroid hormone which leads to hypercalcemia, recurrent nephrolithiasis, pancreatitis, peptic ulcers, and mental changes; - incidence of approx 5 /10,000 pts per year; - usually affects adults over 50 yrs & occurs more commonly in females; - causes: - in most cases is due to single parathyroid adenoma (80% of patients); - malignant tumor: occurs in about 1% of patients with hyperparathyroidism; - occurs often in association w/ multiple endocrine neoplasia syndrome, and rarely to parathyroid carcinoma; - hyperparathyoidism is sometimes seen in renal cell carcinoma and squamous cell carcinoma; - diff dx: - occult tumor; - multiple myeloma (often associated w/ hypercalcemia); - classification: - primary defect of the parathyroid gland w/ hypersecretion of PTH as seen w/ adenoma's of the parathyroid gland; - secondaray causes arise from conditions that produces abnormally low ionic plasma Ca levels and thereby stimulates production of PTH (see renal disease: effects on bone): - tertiary conditions in which PTH secretion has become autonomous after prolonged stimulation of gland owing to secondary parathyroidism;

"A fibrous degeneration, cyst formation, and the presence of fibrous nodules in bone, usually due to HYPERPARATHYROIDISM." 3 synonyms or equivalents were found. Osteitis fibrosa cystica aka/or von Recklinghausen's disease of bone aka/or Brown tumor may be caused by or feature of Hyperparathyroidism may cause or feature Miscellaneous syndromes Bone cyst Pathological fracture X-ray abnormalities Osteosclerosis Inflammatory conditions Osteitis belong(s) to the category of Inflammatory conditions

"A condition of abnormally elevated output of PARATHYROID HORMONE due to parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. It is characterized by the combination of HYPERCALCEMIA, phosphaturia, elevated renal 1,25-DIHYDROXYVITAMIN D3 synthesis, and increased BONE RESORPTION."

Illustrated cases from the experience of Dr Vinod Naneria, Indore, MP, India
Cases include synovial chondromatosis, fibromatosis, haemangiomas, Osteochondritis dissecans, Multiple Myeloma, Osteoid Osteoma, Osteochondroma, Lipoma, Fibroma, Non-ossifying Fibroma, Fibrous cortical defects, Paget Disease, Osteogenesis Imperfecta, Osteopetrosis, Hyperparathyroidism, Neurofibromatosis, Neurilemoma

"Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY."

Hyperparathyroidism, tertiary may be caused by or feature of Miscellaneous syndromes Malabsorption syndrome Renal failure, chronic may cause or feature Biochemical abnormalities Alkaline phosphatase bone isoenzyme levels raised (plasma or serum) Hypercalcaemia Hyperparathyroidism Hypophosphataemia

Radiology case 415-5312

Radiology case 438-5319

hyperparathyroidism

osteitis fibrosa