However some SLE patients may present a more severe joint involvement requiring aggressive therapy. [biomedsearch.com]

Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. [diseaseinfosearch.org]

Abstract André Mégarbané, Agnès Sanders, Eliane Chouery, Valérie Delague, Myrna Medlej-Hashim and Paul-Henri Torbey The Journal of Rheumatology May 2002, 29 (5) 1084-1087; Abstract A young boy from nonconsanguineous Palestinian parents presented with [jrheum.org]

Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.com]

He initially presented in clinic only as part of follow-up with the other two siblings. Initial x-ray screening for disease did not find any hip or lower limb bone disease. [ped-rheum.biomedcentral.com]

• Hodgkin Lymphoma

  All our patients were African-American males, and their skin disease present before the onset of ... 47 Pneumocystis jiroveci pneumonia in patients with non-Hodgkin's lymphoma after Rituximab-containing regimen: two ... [biomedsearch.com]

• Atrial Septal Defect

  […] myxoma, familial PRKAR1A+del Atrial septal defect (ASD) GATA4+del, NKX2-5 Atriodigital dysplasia TBX5+del+dup Atrioventricular septal defect (AVSD) GATA4+del, CRELD ATR-X syndrome ATRX+del+dup Atypical mycobacterial infection, disseminated, X-linked [uniklinik-freiburg.de]

• Weight Loss

  Associated systemic symptoms included fever, weight loss, and lymphadenopathy. Serologic workup revealed positive rheumatoid factor (RF) and anti-cyclic citrullinated protein (anti-CCP) antibodies. [biomedsearch.com]

• Hypertrichosis

  Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse." [ncbi.nlm.nih.gov]

  Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy. [malacards.org]

  Familial partial lipodystrophy, Dunnigan type Refsum disease Dentatorubral pallidoluysian atrophy Multicentric osteolysis-nodulosis-arthropathy spectrum Faisalabad histiocytosis Familial sinus histiocytosis with massive lymphadenopathy H syndrome Pigmented hypertrichosis [doczz.fr]

  Newsletter of Genetics Chapter of Indian Academy of Pediatrics, Vol 2, Issue 1 (Jan-Mar 2009) Hypertrichosis, hyperkeratosis and mental retardation syndrome: further delineation of phenotype.Link. Dalal A, Mehrotra RN. [cdfd.org.in]

• Hirsutism

  Coarse face and body hirsutism are additional features. Source: Online Mendelian Inheritance in Man [diseaseinfosearch.org]

  Coarse face and body hirsutism are additional features. (259600) MalaCards based summary : Multicentric Osteolysis, Nodulosis, and Arthropathy, also known as torg-winchester syndrome, is related to winchester syndrome and multicentric carpotarsal osteolysis [malacards.org]

  Hirsutism MedGen UID: 42461 • Concept ID: C0019572 • Finding A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. [ncbi.nlm.nih.gov]

• Erythema

  […] autonomic neuropathy type II congenital sensory neuropathy with selective loss of small myelinated fibers see hereditary sensory and autonomic neuropathy type V congenital synspondylism see spondylocarpotarsal synostosis syndrome congenital telangiectatic erythema [herenciageneticayenfermedad.blogspot.com]

• Hematuria

  […] autosomal dominant cerebrovascular amyloidosis, see hereditary cerebral amyloid angiopathy autosomal dominant congenital stationary night blindness Autosomal dominant craniometaphyseal dysplasia, see craniometaphyseal dysplasia autosomal dominant familial hematuria [mygenomics.com]

  benign familial (BFH) (Thin-basement-mambrane nephropathy) COL4A4 Alport syndrome, autosomal recessive Hematuria, benign familial (BFH) (=Thin-basement-membrane nephropathy) COL4A5+del Alport syndrome X-linked (APSX) Leiomatosis, diffuse, with Alport [uniklinik-freiburg.de]

  […] syndrome Austin syndrome see multiple sulfatase deficiency autoinflammation, lipodystrophy, and dermatosis syndrome see Nakajo-Nishimura syndrome Autosomal dominant craniometaphyseal dysplasia see craniometaphyseal dysplasia autosomal dominant familial hematuria [herenciageneticayenfermedad.blogspot.com]

Serologic workup revealed positive rheumatoid factor (RF) and anti-cyclic citrullinated protein (anti-CCP) antibodies. [biomedsearch.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [resourcerepository.org]

It is also used for the treatment and prevention of BACTERIAL VAGINOSIS. [bioportfolio.com]

All neurocutaneous syndromes are incurable; therefore, treatment is aimed at prolonging survival and improving quality of life. [news-medical.net]

Given that the treatment options for conditions such as IMO are limited, we conclude that bisphosphonate therapy could be considered for treatment of IMO as it appears safe and has potential benefits as described above. [ped-rheum.biomedcentral.com]

Using standardized diagnostic ... 45 Infliximab-induced psoriasis in treatment of Crohn's disease-associated ankylosing spondylitis: case report and ... [biomedsearch.com]

A functional role for KLF6-SV1 in lung adenocarcinoma prognosis and chemotherapy response. Cancer Research. 68: 965-70. [academictree.org]

Prognosis Azzollini J, Rovina D, Gervasini C, Parenti I, Fratoni A, Cubellis MV, Cerri A, Pietrogrande L, Larizza L J Hum Genet 2014 Nov;59(11):631-7. Epub 2014 Oct 2 doi: 10.1038/jhg.2014.84. PMID: 25273674 Saudi Med J 2005 Jan;26(1):24-30. [ncbi.nlm.nih.gov]

In: Treatment & Prognosis in Pediatrics. Jaypee Brothers, New Delhi, pp. 402-403. Girisha, KM Gaucher Disease. In: Treatment & Prognosis in Pediatrics. Jaypee Brothers, New Delhi, pp. 404-405. This list was generated on Mon May 13 06:36:38 2019 UTC . [eprints.manipal.edu]

[…] abstract structured in up to 10 sections: Definition of the disease – Epidemiology – Clinical description – Aetiology – Diagnostic methods – Differential diagnosis - Genetic counseling (if relevant) – Antenatal diagnosis (if relevant) – Management – Prognosis [doczz.fr]

Electronic address: - - 2014 Infectious arthritis is a medical emergency whose prognosis, in terms of general morbidity and the final functionality of the joint, depends on rapid diagnosis and treatment. [biomedsearch.com]

- - 2014 Dysplasia epiphysealis hemimelica is a rare developmental disorder with unknown etiology affecting epiphysis mostly in childhood. [biomedsearch.com]

History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey", JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.101, pp.2759-2767, 2016 Bayram Y., Karaca E., Akdemir Z.C., Yilmaz E.O., Tayfun G.A., Aydin H., et al., "Molecular etiology [aves.istanbul.edu.tr]

Epidemiology rare Pathology destruction & resorption of affected bones Genetics autosomal recessive associated with defects in MMP2 Clinical-manifestations osteolysis with multicentric involvement carpal & tarsal resorption crippling arthritic changes [anvita.info]

In some cases, the experts are contacted to answer a specific question (on nomenclature, on genetics or on epidemiological data) in order to update the Orphanet content. [doczz.fr]

Relevant External Links for MMP14 Genetic Association Database (GAD) MMP14 Human Genome Epidemiology (HuGE) Navigator MMP14 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MMP14 No data available for Genatlas for MMP14 Gene Regulation [genecards.org]

As the pathophysiology is unknown, differential diagnoses of IMO must include conditions which cause avascular necrosis. [ped-rheum.biomedcentral.com]

It is also used for the treatment and prevention of BACTERIAL VAGINOSIS. [bioportfolio.com]

Management is typically focused on preventing or limiting the development of deformities and helping the patient to achieve independence at home and in the community. [news-medical.net]

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. [chcrr.org]

Ankle contracture MedGen UID: 332440 • Concept ID: C1837407 • Finding A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. [ncbi.nlm.nih.gov]

International Journal of Preventive Medicine, 7 (1). pp. 81-83. [cdfd.sciencecentral.in]