Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1.
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چکیده
منابع مشابه
Multicentric Carpotarsal Osteolysis Mimicking Juvenile Idiopathic Arthritis
Background Multicentric carpotarsal osteolysis (MCTO), a skeletal dysplasia presents in early childhood mimicking juvenile idiopathic arthritis (JIA). Recognition of this syndrome is essential to avoid unnecessary treatment with immunosuppressive agents because of different course and treatment. Case Report A 3-year-old boy presented with swelling and restriction of right wrist joint and left ...
متن کاملIdiopathic multicentric osteolysis: a case report and literature review.
Osteolysis is defined as destruction of bone by resorption. Usually this resorption is associated with some underlying disorder and classified as secondary osteolytic syndromes. Primary idiopathic osteolysis is rare. It is characterised by the spontaneous onset of bone resorption without known causative factors. Bones which previously appeared normal begin to undergo partial or complete resorpt...
متن کاملRemarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene.
Introduction Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant disorder, characterized by aggressive osteolysis of the carpal and tarsal bone, and progressive nephropathy leading to end-stage renal disease. Recently, heterozygous mutations in MAFB gene within a short region of the amino-terminal transcriptional activation domain had been reported to cause MCTO. Al...
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Parkinson’s disease (PD) is a prevalent neurodegenerative disease that usually affects individuals over 50 years of age. Age at onset in a small subset of PD cases is considerably lower, and these are considered early-onset PD (EOPD) patients. Most PD cases appear sporadic, but approximately 15% are familial, and some of the familial cases exhibit Mendelian inheritance. Genetic analysis of fami...
متن کاملIdiopathic multicentric osteolysis with acro-osteolysis. A case report.
We report a case of multicentric massive osteolysis. A 52-year-old woman presented with a three-year history of progressive deformities of the hands. She had osteolytic lesions of the metacarpals and metatarsals, and resorption of the terminal phalanges. During follow-up over four years osteolysis spread to affect the ribs, clavicles, mandible, and long bones. There was no family history of any...
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عنوان ژورنال:
- Journal of medical genetics
دوره 37 11 شماره
صفحات -
تاریخ انتشار 2000