Create issue ticket

727 Possible Causes for Autosomal Dominant, Xanthelasma

  • Heterozygous Familial Hypercholesterolemia

    Tendon xanthomas are seen in 20-40% of individuals with FH and are pathognomonic for the condition. [7] A xanthelasma or corneal arcus may also be seen.[en.wikipedia.org] 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.[patientworthy.com] In this autosomal dominant disease, the concentration of plasma low-density lipoprotein cholesterol (LDL-C) is strongly elevated since birth.[mdpi.com]

  • Familial Hypercholesterolemia

    He had tendinous xanthomas, xanthelasmas and elevated levels of total and LDL cholesterol, at 11.2 and 9.69 mmol/L, respectively, with normal levels of HDL cholesterol and[ncbi.nlm.nih.gov] Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[ncbi.nlm.nih.gov] Tendon xanthomas are seen in 20-40% of individuals with FH and are pathognomonic for the condition. A xanthelasma or corneal arcus may also be seen.[en.wikipedia.org]

  • Hypercholesterolemia

    Distinct, histology-proven xanthelasma palpebrarum and orbital xanthogranuloma rarely occur together in the literature.[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]

  • Alagille Syndrome

    Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol.[ncbi.nlm.nih.gov] Autosomal Dominant Genetic Disorders Recently Answered 4 Answers A Marfan’s (a condition that affects the body’s connective tissue) affects approximately 1 in 5,000 people[sharecare.com] It can rarely develop into cirrhosis, but be responsible for a disabling pruritus and xanthomas.[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] Xanthoma and nail changes may occur. Type 3 is due to mutations in the PPARG gene. It is rare with approximately 30 cases reported to date.[en.wikipedia.org]

  • Homozygous Familial Hypercholesterolemia

    She was then incidentally found to have severe xanthelasma and hypercholesterolemia (serum TC 15.3 mmol/L and LDL-C 13.9 mmol/L).[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] Blood tests- Cholesterol measurement Physical tests- Xanthoma and xanthelasma detection Studies of heart activity- Stress test Genetic tests- Alteration or mutation of the[ihhub.org]

  • Diabetes Mellitus

    The common skin manifestations of diabetes mellitus are erythrasma, xanthomatosis, xanthelasma, phycomycetes and cutaneous infections like furuncolosis, candidiasis, carbuncle[ncbi.nlm.nih.gov] In autosomal dominant inheritance, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. Autosomal recessive.[web.archive.org] […] weight loss (often masked by being overweight) Other manifestations include: diabetic dermopathy: e.g. granuloma annulare, necrobiosis lipoidica diabeteticorum, eruptive xanthoma[radiopaedia.org]

  • Diabetes Mellitus Type 2

    In autosomal dominant inheritance, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. Autosomal recessive.[web.archive.org] It is inherited in an autosomal dominant pattern.[profil.com] dominant type II Diabetes mellitus in childbirth Diabetes mellitus in mother complicating pregnancy, childbirth AND/OR puerperium Diabetes mellitus in the puerperium - baby[icd9data.com]

  • Hyperlipoproteinemia Type 4

    […] macules or plaques found commonly on the upper eyelids (xanthelasma palpebrum/xanthelasma), palms (xanthoma striatum palmare), intertriginous regions, and diffuse planar[ijdvl.com] Type IV hyperlipoproteinemia occurred in 33.3 per cent, and the mode of inheritance was autosomal dominant with incomplete penetrance.[nejm.org] 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.[healthline.com]

  • Hyperlipoproteinemia Type 2b

    […] left lower eyelid Xanthelasma of left upper eyelid Xanthelasma of right eyelid Xanthelasma of right lower eyelid Xanthelasma of right upper eyelid Xanthoma of eyelid 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] Dominant 1 2 Deafness, Autosomal Dominant 10 3 Deafness, Autosomal Dominant 12 2 Deafness, Autosomal Dominant 13 2 Deafness, Autosomal Dominant 15 2 Deafness, Autosomal Dominant[preventiongenetics.com]

Further symptoms

Similar symptoms