Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease),
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 ident...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Dermatologia
2022-01-01
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| Series: | Anais Brasileiros de Dermatologia |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962021000600730&lng=en&tlng=en |
| _version_ | 1818987763750404096 |
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| author | Hiram Larangeira de Almeida Jr Raphael Goveia Rodeghiero Patrícia Naomi Ando Suzuki Marília Marufuji Ogawa |
| author_facet | Hiram Larangeira de Almeida Jr Raphael Goveia Rodeghiero Patrícia Naomi Ando Suzuki Marília Marufuji Ogawa |
| author_sort | Hiram Larangeira de Almeida Jr |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-20T19:11:52Z |
| format | Article |
| id | doaj.art-a3d66cc79ad949b191974782656c7e21 |
| institution | Directory Open Access Journal |
| issn | 0365-0596 |
| language | English |
| last_indexed | 2024-12-20T19:11:52Z |
| publishDate | 2022-01-01 |
| publisher | Sociedade Brasileira de Dermatologia |
| record_format | Article |
| series | Anais Brasileiros de Dermatologia |
| spelling | doaj.art-a3d66cc79ad949b191974782656c7e212022-12-21T19:29:12ZengSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia0365-05962022-01-0196673073410.1016/j.abd.2021.04.010Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease),Hiram Larangeira de Almeida Jrhttps://orcid.org/0000-0003-0705-1778Raphael Goveia Rodeghierohttps://orcid.org/0000-0002-1883-2345Patrícia Naomi Ando Suzukihttps://orcid.org/0000-0002-6472-6594Marília Marufuji Ogawahttps://orcid.org/0000-0002-8073-923XAbstract 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962021000600730&lng=en&tlng=enLipoid proteinosis of Urbach and WietheMicroscopyelectron, scanningMicroscopy, electron, transmissionSkin diseases, genetic |
| spellingShingle | Hiram Larangeira de Almeida Jr 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 Lipoid proteinosis of Urbach and Wiethe Microscopy electron, scanning Microscopy, electron, transmission Skin diseases, genetic |
| title | Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease), |
| title_full | Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease), |
| title_fullStr | Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease), |
| title_full_unstemmed | Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease), |
| title_short | Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease), |
| title_sort | ultrastructural aspects of the skin in lipoid proteinosis urbach wiethe disease |
| topic | Lipoid proteinosis of Urbach and Wiethe Microscopy electron, scanning Microscopy, electron, transmission Skin diseases, genetic |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962021000600730&lng=en&tlng=en |
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