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DERMATOPATHOLOGY • An. Bras. Dermatol. 96 (6) • Nov-Dec 2021 • https://doi.org/10.1016/j.abd.2021.04.010   copy

Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease)☆ ☆ How to cite this article: Almeida Jr HL, Rodeghiero RG, Susuki PN, Ogawa MM. Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease). An Bras Dermatol. 2021;96:730–4. ,☆☆ ☆☆ Study conducted at the Post-Graduation in Health and Behavior, Universidade Católica de Pelotas and Department of Dermatology, Universidade Federal de Pelotas, Pelotas, RS, Brazil.

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Abstract

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.

KEYWORDS
Lipoid proteinosis of Urbach and Wiethe; Microscopy; electron, scanning; Microscopy, electron, transmission; Skin diseases, genetic

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