Oncogenic osteomalacia presenting as a crippling illness in a young man

• Published in: The Lancet (British edition) Vol. 384; no. 9949; p. 1236
• Main Authors: Leow, Melvin Khee-Shing, Prof, Hamijoyo, Laniyati, MSc, Liew, Huiling, MRCP, Thirugnanam, Umapathi, FRCP, Cheng, Mathew Hern Wang, FRCS, Loke, Kelvin S H, MRCP, Teo, Michael Song Kim, FRCR, Chuah, Khoon Leong, FRCPA, Chng, Hiok Hee, FRCP
• Format: Journal Article
• Language: English
• Published: Kidlington Elsevier Ltd 27.09.2014; Elsevier; Elsevier Limited
• Subjects: Adult; Anti-inflammatory agents; Biological and medical sciences; Bone density; Diseases of the osteoarticular system; Foot Diseases - complications; Foot Diseases - diagnosis; General aspects; Genetics; Humans; Illnesses; Internal Medicine; Magnetic Resonance Imaging; Male; Medical imaging; Medical sciences; Medical treatment; Metabolic diseases; Muscle Weakness - etiology; Musculoskeletal Pain - etiology; Neoplasms, Connective Tissue - complications; Neoplasms, Connective Tissue - diagnosis; Nonsteroidal anti-inflammatory drugs; Osteoporosis. Osteomalacia. Paget disease; Other nutritional diseases (malnutrition, nutritional and vitamin deficiencies...); Positron-Emission Tomography; Skin Neoplasms - complications; Skin Neoplasms - diagnosis; Spine; Tumors; Human; Diseases of the osteoarticular system; Nutrition disorder; Vitamin deficiency; Male; Carcinogenesis; Medicine; Carcinogen; Metabolic disorder; Vitamin D; Young adult; Malnutrition; Osteomalacia; Inaugural sign; Nutritional status
• ISSN: 0140-6736; 1474-547X
• DOI: 10.1016/S0140-6736(14)61186-7

Lumbosacral spine MRI in June, 2010, showed ankylosed sacroiliac joints and hip arthritis that were suggestive of ankylosing spondylitis, but non-steroidal anti-inflammatory drugs and disease-modifying antirheumatic drugs gave only modest relief. Oncogenic osteomalacia, an unusual disorder characterised by hypophosphataemia with normal blood calcium, and phosphaturia with normal serum parathyroid hormone from excessive paraneoplastic phosphatonins, was first described by McCance in 1947.2 Most cases are attributable to benign mesenchymal tumours, although giant cell tumours, osteosarcoma, and prostate carcinoma have caused oncogenic osteomalacia.3-5 The disorder is biochemically indistinguishable from inherited forms of hypophosphataemic rickets, so careful family history is essential.