Fibroblast Growth Factor-23 Mutants Causing Familial Tumoral Calcinosis Are Differentially Processed
نویسندگان
چکیده
منابع مشابه
Tumoral Calcinosis Causing Bilateral Thigh Pain
We report a case of a 75-year-old female with bilateral thigh pain for several years secondary to soft tissue calcification. Massive calcinosis of the soft tissues is a unique, but not uncommon, radiographic finding. On the contrary, tumoral calcinosis is a rare familial disease. The term tumoral calcinosis has been overly used to describe any massive collection of periarticular calcification. ...
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...
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...
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 کاملFamilial tumoral calcinosis in two Chinese patients: a case series
INTRODUCTION Tumoral calcinosis is a rare and benign condition characterized by massive subcutaneous soft tissue deposits of calcium phosphate predominantly around large joints. CASE PRESENTATION Familial tumoral calcinosis was present in two members of a Han Chinese family, namely, the son and daughter. The 14-year-old son had the first operation on his right sole of the foot at the age of s...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Endocrinology
سال: 2005
ISSN: 0013-7227,1945-7170
DOI: 10.1210/en.2005-0431