McCune-Albright syndrome - A case report with transmission electron microscopy.
| Autor: | Garcia Neto V; Post-Graduation Program in Health Sciences, Universidade Católica de Pelotas, Pelotas, RS, Brazil., de Almeida HL Jr; Post-Graduation Program in Health Sciences, Universidade Católica de Pelotas, Pelotas, RS, Brazil; Department of Dermatology, Universidade Federal de Pelotas and Universidade Católica de Pelotas, Pelotas, RS, Brazil. Electronic address: hiramalmeidajr@hotmail.com., Lorea CF; Genetics, Universidade Federal de Pelotas, Pelotas, RS, Brazil., Jorge VM; Adjunct Professor of Pathology, Universidade Federal de Pelotas, Pelotas, RS, Brazil., de Almeida AL; Dermatology League, Universidade Federal de Pelotas, Pelotas, RS, Brazil. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Anais brasileiros de dermatologia [An Bras Dermatol] 2022 Jan-Feb; Vol. 97 (1), pp. 58-62. Date of Electronic Publication: 2021 Nov 25. |
| DOI: | 10.1016/j.abd.2021.09.002 |
| Abstrakt: | 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. (Copyright © 2021 Sociedade Brasileira de Dermatologia. Published by Elsevier España, S.L.U. All rights reserved.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|