Diffuse idiopathic skeletal hyperostosis (DISH) is a non-inflammatory disease characterized by calcification and ossification of soft tissues, mainly enthesis and spinal ligaments. The clinical presentation primarily includes spinal involvement-induced pain and range of motion. Although rare, life-threatening gastrointestinal, respiratory or neurological events or severe morbidity due to bone compression on the adjacent structures may develop. There is a limited amount of data on DISH-related events in the literature. In recent years, comorbid metabolic disorders are of great interest in patients with DISH. The early diagnosis of these conditions as well as rare entities allows an effective multidisciplinary approach for the treatment of DISH. In this article, we review extraskeletal symptoms and associated comorbidities in patients with DISH.
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http://dx.doi.org/10.12998/wjcc.v2.i9.422 | DOI Listing |
Calcif Tissue Int
January 2025
Department of Medicine, Surgery and Neurosciences, University of Siena, Policlinico Santa Maria Alle Scotte, Siena, Italy.
Aromatase deficiency (ORPHA:91; OMIM: 613,546) is a rare, autosomal recessive disorder due to loss of function mutations in the CYP19A1 gene, described in both genders with an estimated incidence below 1/1000000. While in female the clinical manifestations generally occur at birth or in early infancy, and mainly involve sexual characteristics, in men clinical signs of aromatase deficiency mostly occur in puberty and especially in late puberty, so that diagnosis is generally established after the second decade due to tall stature, unfused epiphyses and reduced bone mass. Here we review the available information concerning the skeletal and extraskeletal phenotype and the clinical management of bone health in patients with aromatase CYP19A1 gene mutations.
View Article and Find Full Text PDFCell Biochem Funct
January 2025
Department of Metabolism and Systems Science, School of Medical Sciences, University of Birmingham, Birmingham, UK.
Endometriosis is a prevalent chronic gynaecological disorder, but its cause is still unclear, and both genetic and environmental factors may contribute disease aetiology. Prominent amongst the latter is vitamin D which can be obtained either by the action of sunlight on skin or from dietary sources. Serum levels of the main circulating form of vitamin D, 25-hydroxvitamin D (25(OH)D), have been reported to be inversely correlated with endometriosis, suggesting that vitamin D-deficiency may be a risk factor for the disease.
View Article and Find Full Text PDFVet Sci
December 2024
Department of Anatomic Pathology, Faculty of Veterinary Medicine, 400372 Cluj-Napoca, Romania.
Canine extraskeletal osteosarcomas are mesenchymal, osteoid producing tumors that can arise in soft tissues without initial involvement of the bones. An 8-year-old intact male Beagle dog presented with anorexia, abdominal pain, intermittent vomiting and melena. The patient had a history of recurrent ingestion of cotton based-toy fragments, but no prior surgical procedures involving the abdominal cavity.
View Article and Find Full Text PDFBone
December 2024
Department of Otorhinolaryngology - Head and Neck Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, POBox 263, FI-00029 HUS Helsinki, Finland. Electronic address:
J Pediatr Endocrinol Metab
December 2024
Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
The formation of functional bone requires a delicate interplay between osteogenesis and osteolysis. Disturbances in this subtle balance result in an increased risk for fractures. Besides its mechanical function, bone tissue represents a key player in the regulation of calcium homeostasis.
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