A rare case of Hyperphosphatemic Tumoral Calcinosis in a 13 year old Nigerian boy
Ifeyinwa Dorothy Nnakenyi, C. O. Edoga, Emeka Nnakenyi, Nneka Iloanusi, Chika J. Okwor
Abstract
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Ifeyinwa Dorothy Nnakenyi, C. O. Edoga, Emeka Nnakenyi, Nneka Iloanusi, Chika J. Okwor
Abstract
Open-access reader
Tumoral calcinosis is a rare disorder that presents with ectopic calcifications deposited at different periarticular soft tissue regions of the body- mostly hips, elbows and shoulders. It results from a relative deficiency of, or resistance to, the phosphate-regulating hormone - Fibroblast Growth Factor 23 (FGF23), due to gene mutations, causing hyperphosphatemia. We describe this condition in a 13 year old, Nigerian boy who presented with a 7 year history of multiple body swellings of firm to hard consistency. Laboratory investigations showed hyperphosphatemia with normal serum calcium, vitamin D and parathyroid hormone levels. Radiological and histological findings were consistent with tumoral calcinosis. Having had two previous surgeries to remove the lesions, he was now commenced on low phosphate diet and phosphate binders. It is important to differentiate tumoral calcinosis from other causes of pathological calcification using clinical and laboratory findings especially in environments where molecular genetic testing is not readily available.
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Tumoral calcinosis is a rare disorder that presents with ectopic calcifications deposited at different periarticular soft tissue regions of the body- mostly hips, elbows and shoulders. It results from a relative deficiency of, or resistance to, the phosphate-regulating hormone - Fibroblast Growth Factor 23 (FGF23), due to gene mutations, causing hyperphosphatemia. We describe this condition in a 13 year old, Nigerian boy who presented with a 7 year history of multiple body swellings of firm to hard consistency. Laboratory investigations showed hyperphosphatemia with normal serum calcium, vitamin D and parathyroid hormone levels. Radiological and histological findings were consistent with tumoral calcinosis. Having had two previous surgeries to remove the lesions, he was now commenced on low phosphate diet and phosphate binders. It is important to differentiate tumoral calcinosis from other causes of pathological calcification using clinical and laboratory findings especially in environments where molecular genetic testing is not readily available.
Key concepts: Tumoral calcinosis, Hyperphosphatemia, Medicine, Ectopic calcification, Calcification, Fibroblast growth factor 23, Shoulders, Pathological