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63 Possible Causes for Autosomal Dominant, Joint Range of Motion Limitation, Xanthoma

  • Hypercholesterolemia

    The xanthomas also regressed and disappeared by 3 years of age.[] RATIONALE: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease[] Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive[]

  • Homozygous Familial Hypercholesterolemia

    Physical examination revealed tuberous xanthomas on the processus olecrani, as well as smaller tendinous and tuberous xanthomas on the hands.[] Homozygous familial hypercholesterolemia (FH) is an autosomal dominant disease caused by a mutation in the low-density lipoprotein (LDL) receptor.[] Familial hypercholesterolemia is an autosomal dominant disease in which the gene encoding the low density lipoprotein receptor is defective.[]

  • Familial Partial Lipodystrophy

    Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertriglyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syndrome[] Autosomal dominant familial partial lipodystrophy (FPLD) due to mutant LMNA encoding nuclear lamin A/C is characterized by adipose tissue repartitioning together with multiple[] range of motion Treatment Initial: Observation Excision Some patients: For joint limitation or pain After maturation: No bone scan uptake; 6 to 12 months Recurrence: Rare[]

  • Hyperlipoproteinemia Type 2b

    IIb or III hyperlipoproteinemia Hypercholesterolemia with endogenous hyperglyceridemia Hyperbetalipoproteinemia with prebetalipoproteinemia Tubo-eruptive xanthoma Xanthoma[] Dominant, Type B EnglishOMIM 144010 L6506378no S7518660 Y HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B EnglishMEDCIN 38631 L7070148no S8277886 Y familial defective apolipoprotein[] range of motion Treatment Initial: Observation Excision Some patients: For joint limitation or pain After maturation: No bone scan uptake; 6 to 12 months Recurrence: Rare[]

  • Hereditary Multiple Exostoses

    […] obstruction / arteriovenous fistula: giant cell tumor (39%), osteoblastoma, chondroblastoma, angioma, telangiectatic osteosarcoma, solitary bone cyst, fibrous dysplasia, xanthoma[] MATERIALS AND METHODS: We analyzed two autosomal dominant HME families of Indian origin.[] range of motion at the joints upon which they encroach.[]

  • Osteoporosis

    Tendon xanthomas were regarded as very strong indicators, as was an affected sibling. A total score   100 warranted serum cholestanol assessment.[] Risk to Family Members — Autosomal Dominant Inheritance Parents of a proband To date, all reported individuals diagnosed with the autosomal dominant form of hypophosphatasia[] Fractures in other parts of the body, including the distal radius and humerus, are typically painful and result in limited range of motion of the involved joint.[]

  • Gouty Arthritis

    Mimickers of the gouty tophi are rheumatoid nodules and xanthomas.[] This disease is inherited as an autosomal dominant.[] […] pain, especially in the large toe Lingering discomfort even after the intense pain has subsided Inflammation and redness of the affected joint Limited range of motion If[]

  • Hereditary Hyperekplexia

    Xanthomatosis refers to the formation of fatty yellow nodules known as xanthomas.[] We have confirmed the finding of Arg271 mutations in individuals with startle disease in a UK family showing autosomal dominant transmission.[] […] of range of motion that can involve all large joints.[]

  • Hepatoerythropoietic Porphyria

    […] xanthomatosis - Cholesteryl ester storage disease ( Wolman disease ) Other lipid Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma[] […] in liver, erythrocytes, and fibroblasts is virtually absent. porphyria variega ta ( variegate porphyria (VP)) a hereditary, autosomal dominant, type of hepatic porphyria[] A year after diagnosis, the proband and her older affected sister simultaneously developed pain, swelling, and limited range of motion in the interphalangeal and metacarpophalangeal[]

  • Muckle-Wells Syndrome

    Churg-Strauss syndrome (EOSOINPHILIC granulomatosis w/ polyangiitis) Wegner (granulomatous, necrotizing vasculitis) -- but w/ EOSINOPHILS ASTHMA biopsy leukocytoclastic vasculitis xanthomas[] Muckle-Wells syndrome is a rare autosomal dominant disorder characterized by chronic recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation[] These overgrowth arthropathies can cause gross deformity of the joints, with pain and limited range of motion.[]

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