Osteopoikilosis: a case report and literature review
Journal Title: Scholars Journal of Medical Case Reports - Year 2017, Vol 5, Issue 4
Abstract
Abstract: Osteopoikilosis (OPK) is a rare, benign, autosomal dominant disorder, in which sclerotic bone lesions could be found all over the skeleton. Patients are usually asymptomatic; lots of them are discovered incidentally on radiographic images. Loss of-function mutations in LEMD3 gene may be responsible for the lesions. The main differential diagnosis in OPK are mastocytosis, tuberous sclerosis and, osteoblastic metastasis. Bone scintigraphy plays a crucial role in distinguishing OPK from malignant diseases. Since there might be an association between osteopoikilosis and osteosarcoma, clinical follow-up is necessary. Keywords: Osteopoikilosis; autosomal dominant; sclerotic; skeleton
Authors and Affiliations
Yangliang Huang, Houqing Long
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