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
Keywords
Related Articles
- EP ID EP380588
- DOI -
- Views 72
- Downloads 0
A Clinical Dilemma in the Diagnosis of Primary Synovial Osteochondromatosis of Knee
Primary synovial osteochondromatosis is an uncommon benign condition involving mostly the large joints such as the knee, hip, and elbow characterized by proliferation of the synovium with cartilaginous metaplasia within...
Giant Cystic Leiomyoma Masquerading As Ovarian Tumour- Case Report
Cystic degeneration of uterine leiomyoma is a rare complication of leiomyoma that may present with clinical and imaging findings resembling ovarian mass and the final diagnosis is based on the operative and histologic...
Hoffmann’s Syndrome “Hypothyroid Muscular Pseudohypertrophy”: A Case Report
We report a case of Hoffmann’s syndrome with muscle hypertrophy complicating hypothyroidism, in an adult patient. Clinical manifestations, laboratory investigations and electromyography findings were documented. This cas...
AcanthomatousAmeloblastoma: A Rare Case Report
Abstract:Ameloblastoma is the most common clinically significant odontogenic tumor of the gnathic arches. Ameloblastomas show wide morphological spectra and may pose diagnostic difficulties. Ameloblastomas are locally ag...
Penetrating Thoracic Injury with an Iron Rod: An Emergency Service Experience
Abstract: Penetrating thoracic injury by a foreign body is a potential cause of high morbidity and mortality. We report a 10-years-old male having impalement injury on the right inferior thoracic region with a metallic...