Multiple spots on bone: Diagnostic challenge or spot diagnosis?

摘要

A 25-year-old female presented to us with complaints of pain over her right hip for one day following a fall from standing height. On examination there was no swelling/ effusion/tenderness over the hip joint. Range of motion was full and painless. Radiographs showed no evidence of fracture or joint effusion, but multiple scattered lesions of variable size were seen over the whole pelvis and proximal femur (figure 1). Osteopoikilosis was first described in 1915 by Albers-Schonberg as a sclerosing bone dysplasia of unknown cause.1 It is also referred to as spotted bones or osteopathia condensans disseminata. A diagnosis of exclusion, cases may be under-reported. Prevalence in the general population is unknown, but an older retrospective review reported an estimated prevalence of 1 in 50,000/ The lesions have been described in all age groups, and although prevalence studies have shown a higher frequency among men, the apparently unequal sex distribution may be a result of referral bias in the literature (men are more likely than women to present to hospital with traumatic injuries requiring radiological investigation).2 Osteopoikilosis exists in hereditary (autosomal dominant transmission) and sporadic forms and is characterised by defective endochondral bone formation. It is associated with a heterozygous mutation in LEMD3 that encodes an inner nuclear membrane protein; the precise function of this protein remains to be elucidated.