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39 Possible Causes for Autosomal Dominant, Planar Xanthomas, Xanthoma

  • Familial Hypercholesterolemia

    xanthomas, and rapidly progressive coronary vascular disease that usually results in death before age 30 years.[] The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX.[] Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[]

  • Homozygous Familial Hypercholesterolemia

    On examination, he was found to have multiple planar and tendinous xanthomas, an (LDL) cholesterol level of 24.6 mmol/l and family history of 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.[]

  • Hypercholesterolemia

    Planar xanthomas affecting the skin on the hands, elbows, buttocks and knees in a young child are diagnostic for this condition.[] 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[]

  • Heterozygous Familial Hypercholesterolemia

    Corneal arcus and planar, tendon, and tuberous xanthomas are present early in childhood and sometimes at birth.[] Sixty-two patients had positive physical examination findings for Achilles tendon xanthomas.[] HeFH is an autosomal dominant disorder; if one inherits the mutated gene that causes high cholesterol levels from only one parent, HeFH will be inherited.[]

  • Hypoalphalipoproteinemia

    […] may present from adolescence with a combination of the following symptoms: blurred vision due to corneal opacities or cataract tubero-eruptive, tendinous, palmar and/or planar[] One patient actually showed complete regression of xanthelasma and extensor tendon xanthomas of the finger on the combination.[] The data suggest that a part of familial hypoalphalipoproteinemia might be an autosomal dominant trait due to a completely defective apolipoprotein A-I gene.[]

  • Hyperlipoproteinemia Type 5

    , tendinous xanthoma and planar xanthoma (intertriginous and xanthelesma-like lesions).[] […] common of the xanthomas.[] Showing of 6 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Decreased HDL cholesterol concentration Decreased[]

  • Hyperlipoproteinemia Type 4

    , tendinous xanthoma and planar xanthoma (intertriginous and xanthelesma-like lesions).[] Type IV hyperlipoproteinemia occurred in 33.3 per cent, and the mode of inheritance was autosomal dominant with incomplete penetrance.[] The defect is called autosomal dominant. This means that if one or both of your parents has the defective gene, you will likely develop the condition.[]

  • Familial Hyperlipidemia

    Planar xanthomas affecting the skin on the hands, elbows, buttocks and knees in a young child are diagnostic for this condition.[] Hyperchylomicronemia LPL or Apo-CII deficiency (Can't breakdown TGs and Chylomicrons) Elevations in TGs and chylomicrons Decreased levels of LDL and HDL Risk of pancreatitis and xanthomas[] […] with FCH Chromosome locus (specific region) 1q21-q23 has been linked to FCH APOA5 gene association with APOA1/CIII/AIV has also been linked to FCH Autosomal dominant: Autosomal[]

  • Hyperlipoproteinemia Type 2b

    A biopsy of cutaneous lesions suspected to be either planar or tuberous xanthomas will reveal cholesterol deposition. See Workup for more detail.[] 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[]

  • Hyperlipoproteinemia

    Planar xanthomas can be associated with myelomas, but usually in the setting of normal lipids.[] Initial radiographs suggested a primary bone neoplasm; however, an open biopsy established a diagnosis of intraosseous xanthoma.[] Hyperlipoproteinemia Type IV A hypertriglyceridemia disorder, often with autosomal dominant inheritance.[]

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