McCune-Albright syndrome - A case report with transmission electron microscopy
Abstract McCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distribution, extending to right thigh with geographical contours, she has also an ovarian cyst, scoliosis and truncal obesity. Biopsies were taken from the hyperpigmented area and processed for light microscopy and for transmission electron microscopy. Light microscopy showed increased melanin pigment with HE staining. Immunohistochemistry with melanocytic markers (HMB-45 and Melan-A) revealed a normal number of melanocytes. Transmission electron microscopy demonstrated normal epidermal structures, such as desmosomes, cytokeratin filaments and hemidesmosomes. With high magnifications an irregular melanossomal contour was seen, with some indentations in their outline.
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Sociedade Brasileira de Dermatologia
2022
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oai:scielo:S0365-059620220001000582022-02-16McCune-Albright syndrome - A case report with transmission electron microscopyGarcia Neto,VictorAlmeida Jr,Hiram Larangeira deLorea,Claúdia FernandesJorge,Valéria MagalhãesAlmeida,Antônia Larangeira de Cafe-au-lait spots Fibrous dysplasia polyostotic Microscopy electron transmission Abstract McCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distribution, extending to right thigh with geographical contours, she has also an ovarian cyst, scoliosis and truncal obesity. Biopsies were taken from the hyperpigmented area and processed for light microscopy and for transmission electron microscopy. Light microscopy showed increased melanin pigment with HE staining. Immunohistochemistry with melanocytic markers (HMB-45 and Melan-A) revealed a normal number of melanocytes. Transmission electron microscopy demonstrated normal epidermal structures, such as desmosomes, cytokeratin filaments and hemidesmosomes. With high magnifications an irregular melanossomal contour was seen, with some indentations in their outline.info:eu-repo/semantics/openAccessSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia v.97 n.1 20222022-02-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962022000100058en10.1016/j.abd.2021.09.002 |
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Garcia Neto,Victor Almeida Jr,Hiram Larangeira de Lorea,Claúdia Fernandes Jorge,Valéria Magalhães Almeida,Antônia Larangeira de |
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Garcia Neto,Victor Almeida Jr,Hiram Larangeira de Lorea,Claúdia Fernandes Jorge,Valéria Magalhães Almeida,Antônia Larangeira de McCune-Albright syndrome - A case report with transmission electron microscopy |
author_facet |
Garcia Neto,Victor Almeida Jr,Hiram Larangeira de Lorea,Claúdia Fernandes Jorge,Valéria Magalhães Almeida,Antônia Larangeira de |
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Garcia Neto,Victor |
title |
McCune-Albright syndrome - A case report with transmission electron microscopy |
title_short |
McCune-Albright syndrome - A case report with transmission electron microscopy |
title_full |
McCune-Albright syndrome - A case report with transmission electron microscopy |
title_fullStr |
McCune-Albright syndrome - A case report with transmission electron microscopy |
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McCune-Albright syndrome - A case report with transmission electron microscopy |
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mccune-albright syndrome - a case report with transmission electron microscopy |
description |
Abstract McCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distribution, extending to right thigh with geographical contours, she has also an ovarian cyst, scoliosis and truncal obesity. Biopsies were taken from the hyperpigmented area and processed for light microscopy and for transmission electron microscopy. Light microscopy showed increased melanin pigment with HE staining. Immunohistochemistry with melanocytic markers (HMB-45 and Melan-A) revealed a normal number of melanocytes. Transmission electron microscopy demonstrated normal epidermal structures, such as desmosomes, cytokeratin filaments and hemidesmosomes. With high magnifications an irregular melanossomal contour was seen, with some indentations in their outline. |
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Sociedade Brasileira de Dermatologia |
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2022 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962022000100058 |
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