https://orcid.org/0000-0003-4859-9393
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Rimesh Pal, Pinaki Dutta, Sanjay K Bhadada, Tukaram Bolla, Anil Bhansali, Islands of bone within bone, Postgraduate Medical Journal, Volume 95, Issue 1123, May 2019, Page 289, https://doi.org/10.1136/postgradmedj-2019-136414
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A 17-year-old boy presented with a 2-month history of pain in his right wrist. Physical examination did not reveal any local swelling, redness, tenderness or deformity. Radiograph of both wrists and hands revealed multiple symmetric, well-defined, sclerotic lesions involving the carpal bones, metacarpals and phalanges (figure 1A,B). Radiograph of pelvis showed similar lesions (figure 1D). Biochemical profile revealed normocalcaemia, normophosphataemia and age-appropriate serum alkaline phosphatase. Bone scintigraphy did not reveal any increased osteoblastic activity (figure 1C,E). Family screening showed radiologically similar lesions in his father. Accordingly, a diagnosis of osteopoikilosis was made and offered oral analgesics for pain relief.
Osteopoikilosis is a benign sclerotic bone disease. Also known as osteopathia condensans disseminata or spotted bone disease, it is usually transmitted as an autosomal dominant trait. Lesions are typically seen in the epiphysis or metaphysis of long bones. Loss-of-function mutations in LEMD3 have been implicated as the underlying causative mechanism.1 Although the disease is clinically silent in most patients, as many as 20% may present with joint pain.2 Irritation of joint capsule attachment by sclerotic areas, increased intraosseous pressure due to venous stasis and enhanced localised bone turnover at the areas of lesion have been hypothesised as plausible causes of bone and joint pain.3 Radiologically, osteopoikilosis is characterised by homogenous, well-defined, circular/ovoid bone islands typically clustered around joints. Differential diagnoses include osteoblastic metastasis, mastocytosis and tuberous sclerosis.4 Unlike osteoblastic metastasis, bone scintigraphy does not show increased tracer uptake. Treatment involves use of analgesics for pain relief. Bisphosphonates have been tried with conflicting results.
