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

## TL;DR

A rare bone condition called osteopoikilosis was found in a mother and her son, suggesting a possible genetic link.

## Contribution

This paper reports a rare familial case of osteopoikilosis, highlighting its possible genetic inheritance.

## Key findings

- Osteopoikilosis was diagnosed in a 35-year-old woman after an ankle injury revealed sclerotic bone lesions.
- Her 14-year-old son also showed similar bone lesions, indicating a familial occurrence of the condition.
- The cases suggest a possible genetic basis for osteopoikilosis, potentially linked to the LEM domain-containing gene 3.

## Abstract

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.