A generalized skeletal dysplasia with features of chronic idiopathic hyperphosphatasia and fibrous dysplasia of the mandible were observed in a 6-year-old child. The abnormal development of the bones resulted from enhanced remodeling and the failure of mature bone to form. The occurrence of the two lesions in the same child and a review of the literature support the hypothesis that pathogenesis of fibrous dysplasia and idiopathic hyperphosphatasia reflect an underlying common defect in the control of bone cell activity.
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http://dx.doi.org/10.1097/01241398-198911000-00015 | DOI Listing |
J Inherit Metab Dis
November 2022
Department of Radiology, Musculoskeletal Imaging Section and Bone Metabolism Unit, General Hospital of Ioannina, Ioannina, Greece.
Horm Res Paediatr
January 2022
Center for Rare Diseases Ruhr CeSER, Ruhr-University Bochum and Witten/Herdecke University, Bochum, Germany.
In ultra-rare bone diseases, information on growth during childhood is sparse. Juvenile Paget disease (JPD) is an ultra-rare disease, characterized by loss of function of osteoprotegerin (OPG). OPG inhibits osteoclast activation via the receptor activator of nuclear factor-κB (RANK) pathway.
View Article and Find Full Text PDFJoint Bone Spine
December 2021
Pediatric Rheumatology Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Avenida Afonso Romão, 3000-602 Coimbra, Portugal.
Introduction: Juvenile Paget's Disease (JPD) is an ultra-rare inherited osteopathy featuring markedly accelerated bone turnover. Several clinical characteristics have been reported, including bone deformities developing in childhood and hearing loss.
Case Report: We report the case of a 2 ¾-year-old girl that presented with progressive bowing of both legs since the age of 2, lower limb pain and frequent falls with one consequent femur fracture.
Clin Biochem
May 2021
Clinical Laboratory, Biochemistry Department, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Sabadell, Spain.
Bone
August 2020
Center For Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:
Juvenile Paget's disease (JPD) became in 1974 the commonly used name for ultra-rare heritable occurrences of rapid bone remodeling throughout of the skeleton that present in infancy or early childhood as fractures and deformity hallmarked biochemically by marked elevation of serum alkaline phosphatase (ALP) activity (hyperphosphatasemia). Untreated, JPD can kill during childhood or young adult life. In 2002, we reported that homozygous deletion of the gene called tumor necrosis factor receptor superfamily, member 11B (TNFRSF11B) encoding osteoprotegerin (OPG) explained JPD in Navajos.
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