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    GlossaryLipoid Proteinosis

    rare genetic disorder causing waxy deposits in skin and organs

    Lipoid Proteinosis, also known as Urbach-Wiethe disease, is a rare genetic disorder characterized by the abnormal deposition of a waxy, protein-rich material in the skin, mucous membranes, and various internal organs. This can lead to symptoms such as thickened skin, hoarseness, and in some cases, neurological issues due to calcifications in the brain, particularly in the medial temporal lobes.

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      Clinical Case Notes: Lipoid Proteinosis - A Rare Disorder with Pathognomonic Lid Lesions

      research Clinical Case Notes: Lipoid Proteinosis - A Rare Disorder with Pathognomonic Lid Lesions

      13 citations, February 2004 in “Clinical and Experimental Ophthalmology”
      A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
      Clinical Case Notes: Intraorbital Ophthalmic Artery Aneurysms

      research Clinical Case Notes: Intraorbital Ophthalmic Artery Aneurysms

      20 citations, February 2004 in “Clinical and Experimental Ophthalmology”
      Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
      Clinical Case Notes: Tamoxifen Optic Neuropathy

      research Clinical Case Notes: Tamoxifen Optic Neuropathy

      23 citations, February 2004 in “Clinical and Experimental Ophthalmology”
      A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.

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