Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset
An. bras. dermatol
;
92(5,supl.1): 88-91, 2017. graf
Artículo
en Inglés
| LILACS
| ID: biblio-887102
ABSTRACT
Abstract Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Neoplasias Cutáneas
/
Neoplasias Uterinas
/
Síndromes Neoplásicos Hereditarios
/
Leiomiomatosis
Límite:
Femenino
/
Humanos
Idioma:
Inglés
Revista:
An. bras. dermatol
Asunto de la revista:
Dermatologia
Año:
2017
Tipo del documento:
Artículo
País de afiliación:
Turquía
Institución/País de afiliación:
Gulhane School of Medicine/TR
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