Three cases of multicentric carpotarsal osteolysis syndrome: a case series
نویسندگان
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 کاملTrio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans
Citation: Stajkovska A, Mehandziska S, Stavrevska M, Jakovleva K, Nikchevska N, Mitrev Z, Kungulovski I, Zafiroski G, Tasic V and Kungulovski G (2018) Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans. Front. Genet. 9:113. doi: 10.3389/fgene.2018.00113 Trio Clinical Exome Sequencing in a Patient With Multicentric Carp...
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...
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...
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...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2018
ISSN: 1471-2350
DOI: 10.1186/s12881-018-0682-x