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Tumoral calcinosis is a rare condition in which there is calcium deposition in the soft tissue in periarticular location, around joints, outside the joint capsule. [1] They are frequently (0.5–3%) seen in patients undergoing renal dialysis .
Calcinosis is the formation of calcium deposits in any soft tissue. [1] It is a rare condition that has many different causes. These range from infection and injury to systemic diseases like kidney failure .
Normophosphatemic familial tumoral calcinosis is a cutaneous disorder characterized by cutaneous calcification or ossification. [1] See also
Calcinosis cutis is an uncommon condition marked by calcium buildup in the skin and subcutaneous tissues. Calcinosis cutis can range in intensity from little nodules in one area of the body to huge, crippling lesions affecting a vast portion of the body. [ 1 ]
Deleterious mutations of this gene cause normophosphatemic familial tumoral calcinosis (NFTC). [4] On the other hand, mutations that increase the activity of SAMD9 cause myelodysplasia, infection, restriction of growth, adrenal hypoplasia (small adrenal glands with diminished function), genital phenotypes, and enteropathy (MIRAGE) syndrome. [5]
Calcinosis – Raynaud phenomenon – esophageal dysmotility – sclerodactyly – telangiectasia syndrome; ... Normophosphatemic familial tumoral calcinosis; P.
Familial tumoral calcinosis: KIT (CD117) Mastocytosis Mast cell leukemia Mucosal melanoma Piebaldism: KRT1: Epidermolytic hyperkeratosis Ichthyosis hystrix of Curth–Macklin Diffuse nonepidermolytic palmoplantar keratoderma (Unna–Thost keratoderma) Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma) KRT2: Ichthyosis bullosa ...
Identification of Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcifications and elevated serum phosphate levels and it is because of aberrant splicing.