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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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    1. Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions Clinical and Experimental Ophthalmology · 2004 · 13 citations
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    6. CENTRAL STATES DERMATOLOGICAL SOCIETY Archives of Dermatology · 1962
    7. Clinical Case Notes. Castleman's disease of the lacrimal gland Clinical and Experimental Ophthalmology · 2004 · 9 citations
    8. Epidermal mammalian target of rapamycin complex 2 controls lipid synthesis and filaggrin processing in epidermal barrier formation Journal of Allergy and Clinical Immunology · 2019 · 34 citations
    9. Potential Use of Spin Traps to Control ROS in Antipollution Cosmetics—A Review Cosmetics · 2018 · 4 citations
    10. Skin manifestations among<i>GATA2</i>-deficient patients British Journal of Dermatology · 2017 · 27 citations
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