Endocrine Abstracts

JOINT3336

Introduction: Buschke–Ollendorff syndrome (BOS) is a rare, autosomal dominant skeletal dysplasia caused by LEMD3 gene mutations. It is characterized by osteopoikilosis (OPK), benign sclerotic bone lesions, and connective tissue nevi. Although often asymptomatic, BOS may be mistaken for malignant or metabolic bone diseases, leading to misdiagnosis. Short stature, scoliosis, and other skeletal anomalies have been associated with BOS. We present a mother and child diagnosed with BOS after evaluation for bone pain and short stature.

Case report: A 40-year-old woman presented to the orthopedic clinic with progressive bone pain, particularly in both shoulders and arms, for one year. Radiographs revealed multiple, well-defined, symmetrical sclerotic lesions in the epiphyses and metaphyses of both shoulders. These points were located in the cancellous bone tissue and the inner bone cortex bilaterally located in the epiphyses and metaphyses. She has been consulted the radiology department and diagnosed osteopoikilosis. Due to her history of short stature (146 cm, -2.66 SD), and skeletal findings, her 7-year-old son was referred for endocrinological evaluation. The child presented with short stature and intermittent right knee pain. He was born at 37 weeks gestation, weighing 2650 g. His height was 107 cm (-3 SD), weight 19 kg (-1.67 SD), and BMI 16.6 kg/m² (+0.62 SD) with a target height of 167 cm (-1.37 SD). There was a proportional short stature. He was prepubertal. His father’s height was within the normal range His neurodevelopment and dentition were normal. His physical examination revealed multiple connective tissue nevi on the anterior abdominal wall and left gluteal region. Radiographs of the child’s right knee showed multiple sclerotic lesions resembling the "dripping wax" pattern of melorheostosis, consistent with OPK. Whole-body imaging confirmed widespread poikilotic bone lesions. Laboratory tests, including calcium, phosphorus, alkaline phosphatase, inflammatory markers, and IGF-1 and GH test, were normal. Bone age corresponded with chronological age. Genetic testing was cofirmed an LEMD3 mutation leading to a BOS diagnosis. Mother also presented with the same LEMD3 mutation.

Conclusion: BOS is a rare disorder that can present with skeletal dysplasia, short stature, and unexplained bone pain. In cases of familial OPK or unexplained short stature, genetic testing is crucial for accurate diagnosis and appropriate management. Due to the broad spectrum of clinical manifestations, establishing a strong pediatric-adult transition in care a multidisciplinary approach is vital for long-term monitoring and preventing complications associated with BOS.