Hyperostosis corticalis deformans juvenilis

A juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Symptoms are variable and may appear in infancy or later childhood, they include short stature, progressive long bone deformities, fractures, vertebral collapse, enlarged skull, and HYPEROSTOSIS; and SENSORINEURAL HEARING LOSS. It is caused by mutations in the OSTEOPROTEGERIN (TNFRSF11B) gene. OMIM: 239000

Also Known As:

Chronic Congenital Idiopathic Hyperphosphatasemia; Familial Idiopathic Hyperphosphatasemia; Familial Osteoectasia; Hyperphosphatasemia with Bone Disease; Hyperphosphatasemia, chronic congenital idiopathic; Hyperphosphatasia, familial idiopathic; Idiopathic Hyperphosphatasia; Juvenile Paget Disease; Juvenile Paget's Disease; Osteochalasia Desmalis Familiaris; Osteoectasia with Hyperphosphatasia; Osteoectasia, familial; Paget disease of bone 5, juvenile-onset

Networked: 49 relevant articles (2 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Osteitis Deformans: 838
    - Hyperostosis corticalis deformans juvenilis: 49

Related Diseases

1.	Osteoporosis
2.	Bone Resorption
3.	Rheumatoid Arthritis
4.	type 6 Osteogenesis imperfecta
5.	Hyperostosis corticalis deformans juvenilis

Experts

1.	Cundy, Tim: 7 articles (01/2018 - 09/2002)
2.	Mumm, Steven: 5 articles (01/2020 - 07/2002)
3.	Whyte, Michael P: 5 articles (01/2020 - 07/2002)
4.	Polyzos, Stergios A: 5 articles (12/2019 - 11/2010)
5.	Grasemann, Corinna: 4 articles (06/2021 - 08/2013)
6.	McAlister, William H: 4 articles (01/2020 - 07/2002)
7.	Anastasilakis, Athanasios D: 4 articles (12/2019 - 11/2010)
8.	Naot, Dorit: 4 articles (11/2014 - 09/2002)
9.	Ralston, Stuart H: 4 articles (03/2008 - 09/2004)
10.	Hövel, Matthias: 3 articles (06/2021 - 08/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hyperostosis corticalis deformans juvenilis:

1.	Diphosphonates (Bisphosphonates)IBA 05/01/2004 - "Treatment of idiopathic hyperphosphatasia with intensive bisphosphonate therapy." 08/01/2010 - "In the present study, we examined the effect of an osteoclast inhibitor, a bisphosphonate (BP), on the response of maxillary bone to mechanical stress in a high-turnover osteoporosis model (OPG(-/-) mice, a model of juvenile Paget disease). " 06/01/2021 - "Clinical course in two children with Juvenile Paget's disease during long-term treatment with intravenous bisphosphonates." 03/31/2023 - "In children with type 6 osteogenesis imperfecta (OI), juvenile Paget disease (JPD), and secondary osteoporosis who show poor response to bisphosphonate, the use of denosumab has been reported to improve osteoporosis and increase bone mineral density (BMD). " 08/01/2011 - "The previous clinical trials showed that denosumab resulted in a quicker decrease in markers of bone resorption than bisphosphonate, that denosumab has beneficial effect against the prevention of fracture in postmenopausal women and bone erosion in patients with rheumatoid arthritis and that recombinant osteoprotegerin provided the therapeutic efficacy in two adult siblings with juvenile Paget's disease. "
2.	Denosumab FDA Link 03/01/2014 - "Denosumab treatment for juvenile Paget's disease: results from two adult patients with osteoprotegerin deficiency ("Balkan" mutation in the TNFRSF11B gene)." 08/01/2013 - "Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease." 03/31/2023 - "In children with type 6 osteogenesis imperfecta (OI), juvenile Paget disease (JPD), and secondary osteoporosis who show poor response to bisphosphonate, the use of denosumab has been reported to improve osteoporosis and increase bone mineral density (BMD). " 08/01/2011 - "The previous clinical trials showed that denosumab resulted in a quicker decrease in markers of bone resorption than bisphosphonate, that denosumab has beneficial effect against the prevention of fracture in postmenopausal women and bone erosion in patients with rheumatoid arthritis and that recombinant osteoprotegerin provided the therapeutic efficacy in two adult siblings with juvenile Paget's disease. "
3.	OsteoprotegerinIBA 09/01/2013 - "In this study, mechanical stress in the form of tooth movement was applied to osteoprotegerin-deficient knockout mice, which served as an animal model for juvenile Paget's disease. " 09/01/2004 - "Genetic factors are important in the pathogenesis of PDB, and studies have shown that inactivating mutations of the TNFRSF11B gene, encoding osteoprotegerin (OPG), cause the rare syndrome of juvenile Paget's disease. " 09/15/2019 - "Juvenile Paget disease (JPD1), an autosomal-recessive disorder, is characterized by extremely rapid bone turnover due to osteoprotegerin deficiency. " 01/01/2018 - "Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene TNFRSF11B that encodes osteoprotegerin (OPG). " 04/01/2016 - "We report auricular ossification (AO) affecting the elastic cartilage of the ear as a newly recognized feature of osteoprotegerin (OPG)-deficiency juvenile Paget disease (JPD). "
4.	Calcitonin (Calcitonin, Eel)FDA LinkGeneric 11/01/1977 - "Familial idiopathic hyperphosphatasia: a study of two young siblings treated with porcine calcitonin." 01/01/1974 - "Healing of the bones in juvenile Paget's disease treated by human calcitonin." 07/01/1977 - "Two children with bone dysplasia with hyperphosphatasemia (juvenile Paget's disease) were treated with synthetic human calcitonin. " 11/01/1999 - "Calcitonin treatment in osteoectasia with hyperphosphatasia (juvenile Paget's disease): radiographic changes after treatment."
5.	Alkaline PhosphataseIBA 05/01/2017 - "Juvenile Paget's disease (JPD) is a rare, autosomal recessive disorder featuring markedly increased serum alkaline phosphatase activity, indicative of greatly accelerated bone turnover throughout the skeleton. " 01/01/2017 - "Juvenile Paget's disease (JPD), a rare genetic skeletal disorder characterized by accelerated bone turnover with elevated levels of serum alkaline phosphatase, presents in early childhood. " 06/01/2013 - "Juvenile Paget's disease (JPD) is a rare heritable osteopathy characterized biochemically by markedly increased serum alkaline phosphatase (ALP) activity emanating from generalized acceleration of skeletal turnover. " 12/01/2008 - "Juvenile Paget's disease (JPD) is a rare skeletal disorder that's characterized by bone demineralization and elevated levels of serum alkaline phosphatase. " 11/01/1999 - "Osteoectasia with hyperphosphatasia is a rare skeletal disorder, characterised by demineralisation and expansion of tubular bones and elevated serum alkaline phosphatase. "
6.	RANK LigandIBA 08/01/2013 - "Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease." 05/01/2006 - "Inactivating mutations in TNFRSF11B, which encodes osteoprotegerin (a decoy receptor for RANK ligand) cause idiopathic hyperphosphatasia, and polymorphisms in this gene seem to increase the risk for classical PDB. " 07/18/2002 - "Osteoprotegerin deficiency could explain juvenile Paget's disease because osteoprotegerin suppresses bone turnover by functioning as a decoy receptor for osteoclast differentiation factor (also called RANK ligand). "
7.	Pamidronate (Aredia)FDA LinkGeneric 11/01/1992 - "Familial idiopathic hyperphosphatasia (FIH): response to long-term treatment with pamidronate (APD)." 07/01/2004 - "Chronic idiopathic hyperphosphatasia: normalization of bone turnover with cyclical intravenous pamidronate therapy." 01/01/2018 - "Acquired resistance to pamidronate treated effectively with zoledronate in juvenile Paget's disease." 11/01/1992 - "A 5-year-old child suffering from familial idiopathic hyperphosphatasia (FIH) was treated by: (1) intravenous infusion of pamidronate (APD) (3 h) (0.75 mg/kg/day) for 5 days; and (2) oral administration of APD (8 mg/kg/day) for 1 year, in association with calcium (1 g/day) as calcium gluconate. "
8.	Proteins (Proteins, Gene)FDA Link 01/01/2020 - "Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7)." 03/01/2006 - "Deletion of aspartate 182 in OPG causes juvenile Paget's disease by impairing both protein secretion and binding to RANKL."
9.	Zoledronic Acid (Zometa)FDA Link 11/01/2010 - "Profound hypocalcemia following effective response to zoledronic acid treatment in a patient with juvenile Paget's disease." 01/01/2018 - "Acquired resistance to pamidronate treated effectively with zoledronate in juvenile Paget's disease."
10.	Receptor Activator of Nuclear Factor-kappa B (TRANCE-R)IBA 01/01/2023 - "Ultra-rare mendelian osteolytic disorders caused by different length in-frame activating duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) comprise familial expansile osteolysis (FEO), expansile skeletal hyperphosphatasia (ESH), early-onset familial Paget's disease of bone (PDB2), juvenile Paget's disease 2 (JPD2), and panostotic expansile bone disease (PEBD). "

Therapies and Procedures

1.	Therapeutics 07/01/2004 - "Chronic idiopathic hyperphosphatasia: normalization of bone turnover with cyclical intravenous pamidronate therapy." 05/01/2004 - "Treatment of idiopathic hyperphosphatasia with intensive bisphosphonate therapy."
2.	Radiotherapy 10/01/2009 - "They have been reported following radiation therapy and in association with fibromuscular dysplasia and juvenile Paget disease. "
3.	Intravenous Infusions 11/01/1992 - "A 5-year-old child suffering from familial idiopathic hyperphosphatasia (FIH) was treated by: (1) intravenous infusion of pamidronate (APD) (3 h) (0.75 mg/kg/day) for 5 days; and (2) oral administration of APD (8 mg/kg/day) for 1 year, in association with calcium (1 g/day) as calcium gluconate. "
4.	Aftercare (After-Treatment) 11/01/1999 - "Calcitonin treatment in osteoectasia with hyperphosphatasia (juvenile Paget's disease): radiographic changes after treatment."
5.	Oral Administration 11/01/1992 - "A 5-year-old child suffering from familial idiopathic hyperphosphatasia (FIH) was treated by: (1) intravenous infusion of pamidronate (APD) (3 h) (0.75 mg/kg/day) for 5 days; and (2) oral administration of APD (8 mg/kg/day) for 1 year, in association with calcium (1 g/day) as calcium gluconate. "