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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
    2. Clinical Case Notes. Tamoxifen optic neuropathy Clinical and Experimental Ophthalmology · 2004 · 23 citations
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    5. Multiple facial atrophic scars in childhood Pediatric Dermatology · 2024
    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
    11. Polymer- and Lipid-Based Nanostructures for Wound Healing with Barrier-Resolved Design Pharmaceutics · 2025 · 7 citations
    12. Taurine, a non-proteinous essential amino acid for human body systems: an overview Arab Gulf Journal of Scientific Research · 2022
    13. The structure of people’s hair PeerJ · 2014 · 107 citations
    14. Distinct Phenotypic and Genomic Signatures Underlie Contrasting Pathogenic Potential of Staphylococcus epidermidis Clonal Lineages Frontiers in Microbiology · 2019 · 37 citations
    15. Resident macrophages of the lung and liver: The guardians of our tissues Frontiers in Immunology · 2022 · 4 citations
    16. Effect of shampoo, conditioner and permanent waving on the molecular structure of human hair PeerJ · 2015 · 37 citations
    17. Monocyclic Aromatic Compounds 2007 · 1 citations
    18. ENZYMES British journal of pharmacology · 2011 · 1 citations
    19. A discourse on human hair fibers and reflections on the conservation of drug molecules International Journal of Legal Medicine · 1996 · 47 citations
    20. Niosomes as Carrier in Dermal Drug Delivery InTech eBooks · 2012 · 15 citations
    21. Pathways to inflammation: acne pathophysiology European Journal of Dermatology · 2011 · 68 citations
    22. <i>Malassezia</i> and the Asian menopausal skin 2025
    23. Diseases of Periocular Hair Survey of Ophthalmology · 2011 · 7 citations
    24. Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome Clinical and Experimental Ophthalmology · 2004 · 6 citations
    25. Perspectives on Dermatopathology Archives of Dermatology · 1976 · 1 citations
    26. NEW YORK DERMATOLOGICAL SOCIETY Archives of Dermatology · 1953 · 1 citations
    27. Subject Index Journal of The American Academy of Dermatology · 2014
    28. Registrars’ Symposium: Summaries of Papers British Journal of Dermatology · 2006
    29. Single-cell analysis reveals fibroblast heterogeneity and myeloid-derived adipocyte progenitors in murine skin wounds Nature Communications · 2019 · 301 citations
    30. Anatomy and Physiology of the Skin Journal of the Dermatology Nurses’ Association · 2011 · 277 citations