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    Glossary Lipoid 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: Tamoxifen Optic Neuropathy

      research Clinical Case Notes. Tamoxifen optic neuropathy

      23 citations , February 2004 in “Clinical and Experimental Ophthalmology”
      This case report describes a 68-year-old woman with metastatic breast cancer who experienced significant improvement in visual acuity after stopping tamoxifen, which was associated with bilateral optic neuropathies.
      Clinical Case Notes: Intraorbital Ophthalmic Artery Aneurysms

      research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms

      20 citations , February 2004 in “Clinical and Experimental Ophthalmology”
      This paper presents two cases of rare intraorbital ophthalmic artery aneurysms associated with arteriovenous malformations and discusses their clinical presentation, pathogenesis, and management, but reports no new clinical outcomes.

      research Multiple facial atrophic scars in childhood

      February 2024 in “Pediatric Dermatology”
      In this case report, the researchers identified pathogenic compound heterozygous mutations in a young girl with lipoid proteinosis, noting her relatively mild symptoms and recommending genetic testing for early diagnosis and management of this rare condition.