Symptoma

Paget Disease of the Bone Type 5

JPD5

The patients affected with JPD present an altered bone turnover, therefore, show a phenotype characterized by progressive bone deformities, fractures, and short stature. [ncbi.nlm.nih.gov]

An 11-year-old boy presented with the chief complaint of difficulty looking straight with both eyes. [ajnr.org]

Discussion: A 25 year old male, presented in OPD with complain of pain at the middle of the front of both legs about 10 years. [ecommons.aku.edu]

Bullough, MB, ChB, presents a unique, lavishly illustrated account of the pathology of arthritic disorders, metabolic disturbances, and soft tissue and bone tumors. [books.google.com]

Reddy is presently an Academic Editor for PLOS ONE online journal and has served on the Editorial Board of the Journal of Bone and Mineral Research (JBMR). [elsevier.com]

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  • Failure to Thrive

    Clinical manifestations present from early infancy and include: skeletal deformity and failure to thrive followed by skull enlargement, difficulty in walking, progressive sensorineural deafness (due to cochlear involvement), kyphosis and acetabular protrusion [iofbonehealth.org]

    She presented with fractures during the first year‐of‐life followed by bone deformities, delayed development, failure‐to‐thrive, and pneumonias. [ingentaconnect.com]

    Presentation The patient with Juvenile Paget disease present in early childhood Bone pain and bone deformities [Bowed limbs] Failure to thrive. Dwarfism. Progressive enlargement of the head. Difficulty walking. Pigeon chest deformity. [boneandspine.com]

    Failure to thrive. Dwarfism. Progressive enlargement of the head. Bowed limbs. Difficulty walking. Pigeon breast deformity. Muscular weakness. Premature shedding of the teeth. [ 3 ] Associated diseases Retinal degeneration ( angioid streaks). [patient.info]

  • Colic

    Recurrent renal colic from calcium-containing stones. Internal carotid aneurysms (one case report). [ 6 ] Investigations Blood tests - reveal raised alkaline phosphatase (ALP). Urine - raised hydroxyproline. [patient.info]

  • Retinal Lesion

    The loss of hearing and the retinal lesions remained unchanged; however, although the patient had bilateral cataract for approximately 10 years, after denosumab treatment a rapidly progressing cataract developed in the right eye (posterior subcapsular [academic.oup.com]

  • Hearing Impairment

    Hunched back Round back [ more ] 0002808 Muscle weakness Muscular weakness 0001324 Premature loss of teeth Early tooth loss Loss of teeth Premature teeth loss Premature tooth loss [ more ] 0006480 Progressive Worsens with time 0003676 Sensorineural hearing [rarediseases.info.nih.gov]

    Hearing impairment and tooth loss is common. Apart from juvenile-onset Paget's disease (PDB5), the condition is inherited as an autosomal dominant trait. [genome.jp]

  • Progressive Sensorineural Deafness

    Clinical manifestations present from early infancy and include: skeletal deformity and failure to thrive followed by skull enlargement, difficulty in walking, progressive sensorineural deafness (due to cochlear involvement), kyphosis and acetabular protrusion [iofbonehealth.org]

  • Arthralgia

    […] diagnosis of the disease; essentially Behçet's disease does not always follow the International Study Group guidelines and so a high degree of suspicion for a patient who presents having any number of the following findings is necessary: arthritis / arthralgia [en.wikipedia.org]

  • Chest Deformity

    Pigeon chest deformity. Muscular weakness. Premature shedding of the teeth. These abnormalities become more severe during the adolescent growth spurt, when bones grow very quickly. Thickening of the skull bones can lead to hearing loss. [boneandspine.com]

  • Headache

    Headaches In addition there may be headaches if the skull is involved due to pressure on nerves and blood vessels. Some patients also develop a larger size of the head. [news-medical.net]

    Headaches and hearing loss may occur when Paget’ disease affects the skull. The diagnosis is made by correlating the clinical findings with the blood level of alkaline phosphatase and in many cases the X-ray findings. [rheum-care.com]

    Headache, loss of vision, and hearing loss can occur when bones of the skull are affected. With very widespread Paget's disease, it is possible to develop congestive heart failure due to an increased workload on the heart. [medicinenet.com]

    An overgrowth of bone in the skull can cause hearing loss or headaches. Spine. If your spine is affected, nerve roots can become compressed. This can cause pain, tingling and numbness in an arm or leg. Leg. [mayoclinic.org]

    Having Paget’s in the skull may cause an enlarged head, headaches and hearing loss. In severe Paget’s, heart, kidney and nervous systems may occur. [arthritis.org]

(See Workup .) Medical therapy is principally with bisphosphonates; surgical therapy may be indicated. (See Treatment and Medication .) Pathophysiology Three phases of Paget disease have been described: lytic, mixed lytic and blastic, and sclerotic. [emedicine.medscape.com]

Recombinant OPG would represent a replacement treatment, but it is unavailable for clinical use. It seems that life-long treatment with anti-resorptives is required, since the disease is reactivated after treatment discontinuation. [ncbi.nlm.nih.gov]

Her bone disease remained active despite treatment. [academic.oup.com]

This book serves as a useful volume for basic scientists, graduate students, and practicing clinicians in understanding the pathobiology, etiology, and treatment of this disease. [elsevier.com]

Tuysuz B, Mercimek S, Ungur S, et al ; Calcitonin treatment in osteoectasia with hyperphosphatasia (juvenile Paget's disease): radiographic changes after treatment. Pediatr Radiol. 1999 Nov29(11):838-41. [patient.info]

Paget’s Disease of Bone: Prognosis and Complications Abstract Introduction Prognosis of Paget’s Disease of Bone Bone Complications Secondary Osteoarthritis Neoplastic Degeneration Neurological Complications Cardiovascular Complications Other Complications [elsevier.com]

Treatment and prognosis Traditionally, treatment has been a mastectomy with nodal dissection. However, with MR, breast-conserving therapy is more frequently being used. [radiopaedia.org]

Deafness Osteoporosis Delayed motor development Prognosis Severity of the disease increases as the child progresses towards adolescence. Some patients will survive beyond the age of 50 years. [boneandspine.com]

Prognosis - Juvenile Paget disease Not supplied. [checkorphan.org]

[…] lead to osteopetrosis. [ 5, 9 ] Recombinant versions of osteoprotegerin are under research. [ 10 ] Complications Bone pain Pathological fractures Kyphoscoliosis Acetabular protrusion Sensorineural deafness Osteoporosis Delayed motor development [ 11 ] Prognosis [patient.info]

AO and auricular calcification refer interchangeably to rigid pinnae, sparing the ear lobe, from various etiologies. [ncbi.nlm.nih.gov]

Viral Etiology of Paget’s Disease of Bone Abstract Introduction Paramyxo-Viral Etiology Viral and Genetic Interactions References Chapter 3. [elsevier.com]

Other etiologies have also been proposed, such as neoplastic, vascular, endocrinologic, immunologic, traumatic, and hereditary. [radiologykey.com]

The condition was initially named by Paget "osteitis deformans", implying an inflammatory etiology. The term "osteodystrophica deformans" is now preferred. [radiopaedia.org]

Skowronska-Jozwiak E, Lorenc RS ; Metabolic bone disease in children : etiology and treatment options. Treat Endocrinol. 20065(5):297-318. [patient.info]

Clinical Perspectives of Paget’s Disease of Bone Abstract Introduction Natural History Clinical Features and Complications Diagnosis Pathology Biochemistry Epidemiology Secular Change in Paget’s Disease References Chapter 2. [elsevier.com]

[…] locus 8q24 and results from mutations or deletions in the TNFRSF11B gene. [ 3 ] These lead to a deficiency of osteoprotegerin, a member of the TNF-receptor superfamily. [ 4 ] Osteoprotegerin inhibits osteoclast differentiation and bone resorption. [ 5 ] Epidemiology [patient.info]

Epidemiology of Paget's disease of bone: a systematic review and meta-analysis of secular changes. Bone. 2... [5minuteconsult.com]

Synonym(s): Paget disease of bone; osteodystrophia deformans Epidemiology Predominant age: 50 years Less common in patients from ages 20 to 50 years Does not occur in children (Juvenile Paget disease is unrelated to the adult disease.) [unboundmedicine.com]

[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.com]

Rare in African Americans and Asians Incidence and prevalence have decreased in recent years; likely due to genetic and environmental factors Etiology and Pathophysiology Unknown, although several theories proposed: Slow viral infection (controversial [unboundmedicine.com]

Advances in Pathobiology and Management of Paget’s Disease of Bone presents an essential collection of up-to-date knowledge about the pathophysiology, genetics, and treatment of Paget’s disease. [elsevier.com]

Relative or absolute secondary increases in PTH may occur in 12–18% of moderately active PDB in the setting of a skeletal metabolic balance favoring bone formation. (32,33) This may be of pathophysiological importance, because higher concentrations of [onlinelibrary.wiley.com]

Bisphosphonate associated osteonecrosis of the jaw: an update on pathophysiology, risk factors, and treatment. Int J Dent. 2014. 2014:471035. [Medline]. [Full Text]. [emedicine.medscape.com]

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Calcitonin did not prevent the occurrence or progression of angioid streaks, and Argon laser photocoagulation of complicating subretinal neovascular membranes failed to prevent visual loss. [healio.com]

Prevention - Juvenile Paget disease Not supplied. Diagnosis - Juvenile Paget disease Not supplied. Prognosis - Juvenile Paget disease Not supplied. [checkorphan.org]

To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. [medlineplus.gov]

Centers for Disease Control and Prevention. Improving the Clinical Use of Biochemical Bone Marker in Metabolic Bone Diseases. Available online at . Accessed March 2009. Hubert W. Vesper, PhD. [labtestsonline.it]