A Rare Case of Hereditary Bone Dysplasia: Osteopoikilosis in a Mother and Her Son.

Osteopoikilosis (OP) is a rare genetic bone dysplasia that causes dense patches in the trabecular bone and occurs in one in 50,000 people. The exact cause is unknown, but it could be due to mutations in the LEM domain-containing gene 3. Two cases were discovered incidentally in a clinic. The first case involved the mother, a 35-year-old woman with type 2 diabetes and dyslipidemia who presented with left ankle and right forearm pain after falling downstairs. Physical examination revealed mild swelling and tenderness at the left ankle, and X-ray examination revealed multiple small sclerotic lesions. The patient was diagnosed with OP. Analgesics, ankle support, and follow-up care were provided. The second case involved the son, a 14-year-old boy who had occasional pain in his right foot. A physical examination was normal. An X-ray of the right foot showed multiple homogeneous sclerotic lesions. He was diagnosed with familial OP and given analgesics for his pain.