Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease).

Hiram Larangeira de Almeida, Raphael Goveia Rodeghiero, Patrícia Naomi Ando Suzuki, Marília Marufuji Ogawa

Anais brasileiros de dermatologia 2021 Nov-Dec

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Lipoid proteinosis is a rare autosomal recessive disease, characterized by hyaline deposits of PAS-positive material in tissues due to mutations in the ECM1 gene. This study evaluated the ultrastructure of the skin of a 6-year-old child affected by this condition. The light microscopy identified PAS-positive hyaline deposits, which were more intense in the papillary dermis. Scanning electron microscopy of the dermis showed a compact papillary dermis and fibrillar deposits in the middle dermis. Transmission electron microscopy clearly showed the deposition of fibrillar material in the dermis, forming clusters adherent to elastic fibers, between the collagen bundles and the collagen fibers, and also filling up the cytoplasm of dermal fibroblasts. Copyright © 2021 Sociedade Brasileira de Dermatologia. Published by Elsevier España, S.L.U. All rights reserved.

Citation

Hiram Larangeira de Almeida, Raphael Goveia Rodeghiero, Patrícia Naomi Ando Suzuki, Marília Marufuji Ogawa. Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease). Anais brasileiros de dermatologia. 2021 Nov-Dec;96(6):730-734