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Acroosteolysis

Hajdu-Cheney Syndrome


Presentation

  • The purpose of this study is to present an unusual case of cervical instability in a girl with Hajdu-Cheney syndrome.[ncbi.nlm.nih.gov]
  • Here, we present a case of acroosteolysis associated with brachyonychia following exposure to severe cold not mounting to frostbite.[ncbi.nlm.nih.gov]
  • The findings of the present case overlapped those of familial or idiopathic acroosteolysis previously reported by others.[ncbi.nlm.nih.gov]
  • A case of exuberant acroosteolysis and subcutaneous tissue calcinosis in the absence of skin involvement is presented. Different hypotheses are discussed following the clinical unfolding of the case in practice.[ncbi.nlm.nih.gov]
  • We report a consanguineous family in which the index presented with an apparently unique constellation of poikiloderma, joint motion restriction and distal acroosteolysis but lacks features of muscle weakness, lipodystrophy, or cardiac or craniofacial[ncbi.nlm.nih.gov]
Rapidly Progressive Glomerulonephritis
  • The manifestations were: 1. isiopathic progressive acro-osteotions; 2. mutiple cranio-skeletal abnormalities; and 3. polycystic kidneys complicated by a rapidly progressive glomerulonephritis.[ncbi.nlm.nih.gov]
Disorder of Digit
  • A Raynaud phenomenon-like disorder, with digital pain, numbness, and itching, is usually a premonitory sign indi cating that alterations in bone will probably ensue. Changes in the fingers and nails are usually apparent.[rrnursingschool.biz]
Muscle Weakness
  • We report a consanguineous family in which the index presented with an apparently unique constellation of poikiloderma, joint motion restriction and distal acroosteolysis but lacks features of muscle weakness, lipodystrophy, or cardiac or craniofacial[ncbi.nlm.nih.gov]

Treatment

  • Neutrophilic chemotaxis, evaluated before starting the treatment and after 15 and 30 days of therapy, showed a progressive decrease of the initial very high index.[ncbi.nlm.nih.gov]
  • These treatments include drugs that act to strengthen the bones and prevent the loss of bone mass.[diseaseinfosearch.org]
  • Management and treatment No treatment exists for AOD, but early osteoporosis might be treated by bisphosphonates, alone or in combination with teriparatide. Prognosis Patients have a normal life expectancy.[orpha.net]
  • In case of severe symptoms, the outlook may be guarded Please find comprehensive information on Gorham-Stout Disease regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis[dovemed.com]

Prognosis

  • In case of severe symptoms, the outlook may be guarded Please find comprehensive information on Gorham-Stout Disease regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis[dovemed.com]
  • Prognosis Patients have a normal life expectancy. However, osteoporosis and respiratory dysfunction are factors for severe morbidity. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Chronic osseous involvement is usually associated with diseases of other organs and has a poor prognosis Sarcoid of feet.[learningradiology.com]
  • Prognosis [ edit ] Depends on the type and degree of systemic sclerosis. There is no cure for scleroderma and most people die from involvement of the heart, lungs and/or kidney.[en.wikibooks.org]

Etiology

  • Idiopathic non-familial variant is of unknown etiology and usually affects fingers and is progressive. Hereditary causes of acroosteolysis follow an autosomal dominant or recessive pattern of inheritance and distal phalanges are primarily affected.[bone-abstracts.org]
  • Etiology AOD is caused by truncating mutations in the NOTCH2 gene (1p13-p11). All mutations lie within the last coding exon of NOTCH2 resulting in a gain of function due to the loss of the protein-destabilizing PEST domain.[orpha.net]
  • (de Quervain’s thyroiditis), 6 Definition and epidemiology, 6 Etiology and pathogenesis, 6 Signs and symptoms, 6 Diagnosis, 6 Treatment, 6 Illustration (Fig. 1.7), 7 Benign thyroid nodules, 8 Definition and epidemiology, 8 Etiology and pathogenesis,[euro-libris.ro]
  • Depending on the etiology, the serum calcium may be elevated and phosphate may be decreased.[uwmsk.org]

Epidemiology

  • Epidemiologic, pathogenetic and radiological aspects of occupational acroosteolysis are briefly reviewed.[ncbi.nlm.nih.gov]
  • From: acroosteolysis in A Dictionary of Public Health » Subjects: Medicine and health — Public Health and Epidemiology Related content in Oxford Reference Reference entries acroosteolysis in A Dictionary of Public Health Length: 33 words View all related[oxfordreference.com]
  • Summary Epidemiology Prevalence is unknown; over 80 cases have been described to date. Clinical description AOD has a variable, broad and evolving clinical spectrum.[orpha.net]
  • Scleroderma epidemiology. Rheum Dis Clin North Am, 29(2):239-54. Mayes MD, Lacey JV Jr, Beebe-Dimmer J, Gillespie BW, Cooper B, Laing TJ, et al (2003).[ijph.tums.ac.ir]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology of the disease is unknown, but obstructive lesions of small peripheral arteries are thought to cause osteolysis of the distal phalanges of the fingers. Copyright 1978 by The Journal of Bone and Joint Surgery, Incorporated[journals.lww.com]
  • The pathophysiology of the disease is not known.[rrnursingschool.biz]
  • Clarke LA, Hollak CE (2015) The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. Best Pract Res Clin Endocrinol Metab 29(2):219–235 PubMed CrossRef Google Scholar 50.[link.springer.com]
  • Diagnosis, 77 Treatment, 77 Illustrations (Figs 4.1–4.5), 77–79 Skin diseases associated with diabetes, 80 Definition, 80 Etiology, 80 Signs and symptoms, 80 Diagnosis, 80 Treatment, 80 Illustrations (Figs 4.6 & 4.7), 80–81 Diabetic foot, 81 Definition, 81 Pathophysiology[euro-libris.ro]

Prevention

  • These treatments include drugs that act to strengthen the bones and prevent the loss of bone mass.[diseaseinfosearch.org]
  • In case of severe symptoms, the outlook may be guarded Please find comprehensive information on Gorham-Stout Disease regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis[dovemed.com]
  • When the condition is discovered, amputation may need to be performed in order to prevent the spread of tissue necrosis and painful ulceration on the affected digits.[wisegeek.com]
  • The rare association may be attributed to the vascular pattern of the tongue which may prevent the lodging of megakaryocytes as opposed to their preferential lodging in the digits which has been proposed as a plausible theory for skin thickening in HOA[ispub.com]
  • All factors for inclusion (listed in Table 1 ) were determined in advance and were retained in the model regardless of statistical significance to prevent complications of multiplicity or conditionality in the selection of factors.[academic.oup.com]

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