Endocrine Abstracts

17 years lady presented with a fall onto her left knee, following which she continued to have severe persistent pain and occasionally her knee gave away with intermittent “locking”. A referral to metabolic bone disease clinic was made as the left knee X-ray showed discreet spherical areas of increased radiological density with normal CT and MRI scans of the left knee. Physical examination was unremarkable. Her brother was under investigation for lumps under skin. Morphology of the spots noticed on X-ray was identical to those seen in osteopoikilosis. Moreover, the relative clinical and laboratory tests such as FBC, ESR, CRP, rheumatoid factor, serum electrolytes, LFT, TFT, Vitamin D, tumour markers, alkaline phosphatase, ANA, and anti-DS-DNA were negative for any type of arthritis, infection or osteoblastic bone metastases which were in the differential diagnosis. Bone densitometry was normal and skeletal survey to determine the extent of this generalised bone disorder revealed extensive changes representing osteopoikilosis throughout the skeleton involving the hands, feet, humerus, ulna and radius, femur, tibia and fibula, changes also present within the pelvis and in the sacrum. LEMD3 heterozygous gene mutation was positive. Subsequently she developed a lump over the lateral aspect of right scapula which increased in size and causing discomfort particularly at night. MRI and CT scans of the right scapula were unremarkable apart from a bony mass. She underwent surgical removal of the bone lump (Although the risk of malignant transformation of osteopoikilosis is rare) which confirmed to be osteochondroma. Her brother has been diagnosed to be suffering from Buschke-Ollendorff syndrome, which can be associated with both osteopoikilosis and melorheostosis. Despite the fact that osteopoikilosis is a very rare asymptomatic condition that most physicians are not familiar with, it is valuable to take it into consideration, particularly when diagnostic issues on bone radiography occur and severe pain at the adjacent joints co-exists.