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Fulltext Bilateral Stress Fractures of the Femoral Neck from RenalOsteomalacia: A Case Report

Sengupta, S.

Malays Orthop J, 2008;2(1):55-57.
MyJurnal

A rare case of spontaneous bilateral stress fractures of femoral neck leading to coxa vara in a young female with history of chronic renal disease and secondary osteomalacia is described. Once the underlying disease was controlled, the fracture was treated by valgus osteotomy with good result.

Matched MeSH terms: Osteomalacia
Fulltext Paraneoplastic Secretion of Multiple Phosphatonins From a Deep Fibrous Histiocytoma Causing Oncogenic Osteomalacia

Leow MKS, Dogra S, Ge X, Chuah KL, Liew H, Loke KSH, et al.

J Clin Endocrinol Metab, 2021 04 23;106(5):e2299-e2308.
PMID: 33462615 DOI: 10.1210/clinem/dgaa964

CONTEXT: Literature suggests that oncogenic osteomalacia is usually caused by a benign mesenchymal tumor secreting fibroblast growth factor subtype-23 (FGF-23), but the involvement of other phosphatonins has only been scarcely reported. We have previously published a seemingly typical case of oncogenic osteomalacia. Following curative neoplasm resection, we now report unique molecular characteristics and biology of this tumor.
CASE DESCRIPTION: A 25-year-old man had been diagnosed with severe oncogenic osteomalacia that gradually crippled him over 6 years. 68Ga-DOTA-TATE positron emission tomography/computed tomography scan localized the culprit tumor to his left sole, which on resection revealed a deep fibrous histiocytoma displaying a proliferation of spindle cells with storiform pattern associated with multinucleated giant cells resembling osteoclasts. Circulating FGF-23, which was elevated more than 2-fold, declined to undetectable levels 24 h after surgery. Microarray analysis revealed increased tumor gene expression of the phosphatonins FGF-23, matrix extracellular phosphoglycoprotein (MEPE) and secreted frizzled-related protein subtype 4, with elevated levels of all 3 proteins confirmed through immunoblot analysis. Differential expression of genes involved in bone formation and bone mineralization were further identified. The patient made an astonishing recovery from being wheelchair bound to fully self-ambulant 2 months postoperatively.
CONCLUSION: This report describes oncogenic osteomalacia due to a deep fibrous histiocytoma, which coincidentally has been found to induce profound muscle weakness via the overexpression of 3 phosphatonins, which resolved fully upon radical resection of the tumor. Additionally, genes involved in bone formation and bone remodeling contribute to the molecular signature of oncogenic osteomalacia.

Matched MeSH terms: Osteomalacia/diagnosis; Osteomalacia/etiology*; Osteomalacia/genetics; Osteomalacia/metabolism
Fulltext Insufficiency fractures related to low-dose adefovir dipivoxil treatment for chronic hepatitis B

Poh F, Sing WH, Mohan PC

Med J Malaysia, 2015 Feb;70(1):38-41.
PMID: 26032529

We present a case of a 53-year-old woman who developed multifocal insufficiency fractures associated with adefovir dipivoxil (ADV) induced osteomalacia, including recurring metatarsal insufficiency fractures and a subtrochanteric femoral insufficiency fracture requiring surgical fixation. She had received low-dose ADV treatment for 59 months for chronic hepatitis B viral infection at the time of presentation with subtrochanteric fracture. Imaging evidence of multifocal insufficiency fractures and metabolic disease on background of hypophosphatemia is attributed to hypophosphatemic osteomalacia from adefovir-induced renal proximal tubular dysfunction. Radiologists and clinicians should be aware of the possibility of insufficiency fractures in patients receiving ADV therapy to avoid delayed diagnosis and progression of high-risk proximal femoral fractures.

Matched MeSH terms: Osteomalacia
Fulltext Disputes on escalating proof of vitamin D’s supplementation

Usha, K., Muthuukaruppan, M., Dhanalekshmi, U. M.

International Food Research Journal, 2014;21(6):2075-2081.
MyJurnal

Vitamin D supplementation appears to be potential for reducing risks of cancer, cardiovascular disease, and other chronic diseases, existing evidence on its benefits and risks is inadequate and debatable. Questions remain as to whether supplementation of Vitamin D playing any role in the above mentioned diseases. In the absence of compelling evidence for benefit, taking supplement is producing any risk or not. While sorting the various positive and negative claims for Vitamin D, it attracts an urgent need for further research and review on reports to answer fundamental questions about the risks and benefits of supplementation. There still remains a great need to advance our understanding regarding the effectiveness of Vitamin D. This review gives an overview on disputes of Vitamin D supplementation that is convincing and interventional regarding burning issues of Vitamin D therapy. Beyond its use to prevent osteomalacia or rickets, the evidence for other health effects of vitamin D supplementation in the general inhabitants is conflicting. It is a well known predictability that any effective substance also has unwanted side effects, so clear cut evidence regarding the safety is required before supplementing Vitamin D for pathological conditions and other health benefits.

Matched MeSH terms: Osteomalacia
Fulltext Debilitating Pain and Fractures: a Rare Case of Hypophosphatemic Osteomalacia with Concomitant Vitamin D Deficiency in Neurofibromatosis Type 1

Nagaratnam S, Karupiah M, Mustafa N

J ASEAN Fed Endocr Soc, 2020;35(1):105-108.
PMID: 33442176 DOI: 10.15605/jafes.035.01.17

Hypophosphatemic osteomalacia is a rare form of metabolic bone disorder in neurofibromatosis type 1 (NF1). The exact disease mechanism of this disorder in NF1 is yet to be established. We present a 44-year-old female known to have NF1, who presents with debilitating bone pain, weakness and multiple fractures. Laboratory investigations showed persistent hypophosphatemia with renal phosphate wasting suggestive of hypophosphatemic osteomalacia. She also had concomitant vitamin D deficiency which contributed to the disease severity. Medical therapy with oral phosphate and vitamin D improved her symptoms without significant changes in fracture healing or phosphate levels.

Matched MeSH terms: Osteomalacia