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

  • Homozygous Familial Hypercholesterolemia

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

  • Familial Partial Lipodystrophy

    Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertriglyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syndrome[ncbi.nlm.nih.gov] Autosomal dominant familial partial lipodystrophy (FPLD) due to mutant LMNA encoding nuclear lamin A/C is characterized by adipose tissue repartitioning together with multiple[ncbi.nlm.nih.gov] 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[neuromuscular.wustl.edu]

  • Hyperlipoproteinemia Type 2b

    IIb or III hyperlipoproteinemia Hypercholesterolemia with endogenous hyperglyceridemia Hyperbetalipoproteinemia with prebetalipoproteinemia Tubo-eruptive xanthoma Xanthoma[icd9data.com] Dominant, Type B EnglishOMIM 144010 L6506378no S7518660 Y HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B EnglishMEDCIN 38631 L7070148no S8277886 Y familial defective apolipoprotein[doctor.am] 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[neuromuscular.wustl.edu]

  • Hereditary Multiple Exostoses

    […] obstruction / arteriovenous fistula: giant cell tumor (39%), osteoblastoma, chondroblastoma, angioma, telangiectatic osteosarcoma, solitary bone cyst, fibrous dysplasia, xanthoma[dogdance-turnier-oestringen.larissafuchs.com] MATERIALS AND METHODS: We analyzed two autosomal dominant HME families of Indian origin.[ncbi.nlm.nih.gov] range of motion at the joints upon which they encroach.[en.wikipedia.org]

  • Osteoporosis

    Tendon xanthomas were regarded as very strong indicators, as was an affected sibling. A total score   100 warranted serum cholestanol assessment.[doi.org] Risk to Family Members — Autosomal Dominant Inheritance Parents of a proband To date, all reported individuals diagnosed with the autosomal dominant form of hypophosphatasia[web.archive.org] 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.[emedicine.medscape.com]

  • Gouty Arthritis

    Mimickers of the gouty tophi are rheumatoid nodules and xanthomas.[radsource.us] This disease is inherited as an autosomal dominant.[pedsinreview.aappublications.org] […] 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[belmarrahealth.com]

  • Hereditary Hyperekplexia

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

  • Hepatoerythropoietic Porphyria

    […] xanthomatosis - Cholesteryl ester storage disease ( Wolman disease ) Other lipid Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma[wikidoc.org] […] in liver, erythrocytes, and fibroblasts is virtually absent. porphyria variega ta ( variegate porphyria (VP)) a hereditary, autosomal dominant, type of hepatic porphyria[medical-dictionary.thefreedictionary.com] 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[dx.doi.org]

  • Muckle-Wells Syndrome

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

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