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Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. The clinical presentation usually occurs first in childhood with progressive cholestasis. This usually leads to failure to thrive, cirrhosis, and the need for liver transplantation. [citation ...
Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which affects multiple organs. [ 1 ] [ 2 ] Its hallmarks are widespread progressive calcifications , cysts and abnormalities of the white matter of the brain, usually occurring together with abnormalities of the blood vessels of the retina .
Dystrophic calcinosis cutis is the most prevalent kind of calcification on the skin. [2] The ectopic calcified mass usually consists of amorphous calcium phosphate and hydroxyapatite. [6] Dystrophic calcification is linked to a number of illnesses, such as infections, hereditary diseases, cutaneous neoplasms, and connective tissue diseases. [7]
This is a shortened version of the third chapter of the ICD-9: Endocrine, Nutritional and Metabolic Diseases, and Immunity Disorders.It covers ICD codes 240 to 279.The full chapter can be found on pages 145 to 165 of Volume 1, which contains all (sub)categories of the ICD-9.
The cysts can be removed via excision, though conventional cyst excision techniques have proven impractical, and a specialized regimen is required. [5] Cryotherapy and electrodessication may also be tried, but since it is a genetic disorder all the modalities have very little effect. Individual cysts can be removed surgically.
The first symptoms typically include fever, intermittent abdominal pain, and an enlarged liver.Occasionally, yellow discoloration of the skin occurs. [4] Caroli disease usually occurs in the presence of other diseases, such as autosomal recessive polycystic kidney disease, cholangitis, gallstones, biliary abscess, sepsis, liver cirrhosis, kidney failure, and cholangiocarcinoma (7% affected). [2]
This leads to jaundice and an enlarged liver. If the obstruction is not relieved, permanent damage may occur to the liver - scarring and cirrhosis - with the signs of portal hypertension (obstruction to the flow of blood through the liver) and ascites (fluid accumulation in the abdomen). There is an increased risk of cancer in the wall of the cyst.