Recessive mutation in galnt3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis
نویسندگان
چکیده
منابع مشابه
Chronic recurrent multifocal osteomyelitis associated with tumoral calcinosis.
VOL. 76-B, No. 2, MARCH 1994 is often a family history of similar masses. Radiographicatty, the lesion appears as a welt-demarcated mass of lobutated, round or oval catcifications in the periarticular soft tissues. No bony abnormalities are seen and the joint space is not involved. Hyperphosphataemia is the only biochemical abnormality which has been detected (Reddy and Rao 1964; Lafferty, Reyn...
متن کاملAn FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels. Recently, mutations in the GALNT3 gene have been described to cause FTC. The FTC phenotype is regarded as the metabolic mirror image of hypophosphatemic conditions, where causal mutations are known in genes FGF23 or PHEX. We investigated an individual...
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Introduction: SAPHO syndrome is defined as the association of a group of rare sterile osteoarticular disorders and inflammatory skin diseases whose etiology, although not yet determined, probably involves genetic, immunological and infectious mechanisms. The recurrent multifocal osteomyelitis, an inflammatory disease, can be associated with this syndrome even as a single event. Case Report:...
متن کاملHyperphosphatemic Familial Tumoral Calcinosis: Odontostomatologic Management and Pathological Features
BACKGROUND Hyperphosphatemic familial tumoral calcinosis (HFTC) is to a rare autosomal recessive disorder characterized by cutaneous and sub-cutaneous calcified masses, usually adjacent to large joints. The aim of the current study was to report on the clinico-pathological features of a patient with HFCT, with emphasis on alterations in the jawbones and teeth and the subsequent therapeutic inte...
متن کاملA deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
Familial tumoral calcinosis (FTC) is a rare autosomal recessive disorder characterized by the progressive deposition of calcified masses in cutaneous and subcutaneous tissues, which results in painful ulcerative lesions and severe skin and bone infections. Two major types of FTC have been recognized: hyperphosphatemic FTC (HFTC) and normophosphatemic FTC (NFTC). HFTC was recently shown to resul...
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ژورنال
عنوان ژورنال: The Turkish Journal of Pediatrics
سال: 2019
ISSN: 0041-4301
DOI: 10.24953/turkjped.2019.01.022