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Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.
Mol Genet Genomic Med
May 2024
Instituto de Investigación Valdecilla (IDIVAL), Santander, Spain.
Background: Bone tissue homeostasis relies on the coordinated activity of the bone-forming osteoblasts and bone-resorbing osteoclasts. Osteomesopyknosis is considered a distinctive rare sclerosing skeletal disorder of unelucidated pathophysiology and presumably autosomal dominant transmission. However, the causal genes are unknown.
View Article and Find Full Text PDFPeriarticular calcifications containing giant pseudo-crystals of francolite in skeletal fluorosis from 1,1-difluoroethane "huffing".
Bone
July 2022
Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO 63110, USA. Electronic address:
Inhalant use disorder is a psychiatric condition characterized by repeated deliberate inhalation from among a broad range of household and industrial chemical products with the intention of producing psychoactive effects. In addition to acute intoxication, prolonged inhalation of fluorinated compounds can cause skeletal fluorosis (SF). We report a young woman referred for hypophosphatasemia and carrying a heterozygous ALPL gene variant (c.
View Article and Find Full Text PDFPartial Claviculectomy to Relieve Tracheal Compression in an Adult Male with Osteomesopyknosis.
Ann Vasc Surg
April 2022
University of Pittsburgh Medical Center, Division of Vascular Surgery, Pittsburgh, PA. Electronic address:
Background: The clavicle is a long bone that forms the anterior border of the thoracic inlet. Anatomic abnormalities of the clavicle can lead to compression of the innominate artery and trachea due to mass effect. These anatomic abnormalities can be amenable to surgical resection, which can provide complete resolution of symptoms.
View Article and Find Full Text PDFOsteomesopyknosis--a benign axial hyperostosis that can mimic metastatic disease.
Skeletal Radiol
January 2016
Radiology Department of the University Hospital, Hospital Universitario Puerta del Mar, Cádiz, Spain.
We report two cases of an axial osteosclerosis with histopathologic findings of osteomesopyknosis in siblings. Osteomesopyknosis is a benign hereditary osteosclerosis that can show a radiologic pattern similar to blastic metastatic disease. The aim of this article is to inform radiologists about the existence of this benign condition and its various radiologic manifestations.
View Article and Find Full Text PDFA First Case of Osteomesopyknosis in Korea.
J Bone Metab
May 2015
Department of Internal Medicine, Daegu Fatima Hospital, Daegu, Korea.
Osteomesopyknosis is a rare sclerosing bone disorder of autosomal dominant inheritance. We report a first case of osteomesopyknosis in Korea. A 16-year old girl complained of diffuse back pain for 1 year.
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