McCune-Albright syndrome - A case report with transmission electron microscopy
An. bras. dermatol
;
97(1): 58-62, Jan.-Feb. 2022. graf
Artículo
en Inglés
| LILACS
| ID: biblio-1360094
ABSTRACT
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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Pubertad Precoz
/
Displasia Fibrosa Ósea
/
Displasia Fibrosa Poliostótica
Límite:
Adulto
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
An. bras. dermatol
Asunto de la revista:
Dermatologia
Año:
2022
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Genetics, Universidade Federal de Pelotas/BR
/
Universidade Católica de Pelotas/BR
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