Case Study Swelling

Case Presentation: A 27-year-old man presented with large swelling around both elbow and right hip (Fig-1) for the duration of two years, which caused dull aching pain with mild restriction of joint movement. There was history of local trauma to the affected areas preceding the development of the swelling. Swellings were round with bosselated surface. Overlying skin was stretched and shining with few dilated veins and areas of hyper pigmentation. On palpation swellings were warm, non-tender with consistency varying from firm to hard with few cystic areas. Serum biochemistry was normal except hyperphosphatemia (6.9mg/dl). Plain radiography (Fig-2) showed large soft tissue masses with fluffy calcification around both elbows and right hip. USG
Patient underwent complete excision of all the masses. Postoperatively phosphate levels were still on the higher side. He was advised low phosphorous diet, acetazolamide and phosphate binder (calcium acetate). Histopathology showed giant cell reaction, xanthomatous and focal mononuclear infiltrate suggestive of tumoral calcinosis (TC). He was reevaluated after 6 months. Since patient had persistently elevated phosphorus levels, calcium acetate was replaced with Sevelamer on which phosphorous levels progressively decreased to
Onset of disease can vary from age of 3 months to 70 years, peak incidence in the second decade without significant gender preponderance. Two third involves blacks especially African or North American descent. Family history is apparent in 30 -40 % cases. Biochemical hallmark of this condition is hyperphosphatemia due to increased renal tubular reabsorption of phosphate. Hyperphospatemic familial tumoral calcinosis (HFTC) is an autosomal recessive disorder. HFTC can arise from either biallelic loss-of-function mutations in FGF23 that result in altered maturation and reduced secretion or biallelic loss-of-function mutations in GALNT3, an enzyme important in O-glycosylation of proteins that may include FGF23. Recently loss-of-function mutations in KLOTHO gene has also been reported. Clinically mineral deposition manifests as soft tissue masses around major joints. They are usually painless and can progressively grow in size. They can compress adjacent neurovascular structure and may also cause ulceration of overlying skin with discharge of chalky white material. Surgical excision is required if the mass is painful, or cosmetic reason. Medical treatment include dietary calcium and phosphate restriction, phosphate binder with acetazolamide. Recently bisphosphonate therapy has been reported to alleviate