Reed's Syndrome

Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditar...

Descripción completa

Detalles Bibliográficos
Autores principales: Almeida, Filipa Tavares, Santos, Rui P, Carvalho, Sofia D, Brito, Maria C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996637/
https://www.ncbi.nlm.nih.gov/pubmed/29937565
http://dx.doi.org/10.4103/ijd.IJD_69_18
_version_ 1783330913381253120
author Almeida, Filipa Tavares
Santos, Rui P
Carvalho, Sofia D
Brito, Maria C
author_facet Almeida, Filipa Tavares
Santos, Rui P
Carvalho, Sofia D
Brito, Maria C
author_sort Almeida, Filipa Tavares
collection PubMed
description Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of MCUL with renal cell carcinoma. We report a case of a 57-year-old woman, with multiple cutaneous leiomyomas as the presenting sign of Reed's syndrome.
format Online
Article
Text
id pubmed-5996637
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-59966372018-06-22 Reed's Syndrome Almeida, Filipa Tavares Santos, Rui P Carvalho, Sofia D Brito, Maria C Indian J Dermatol Case Report Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of MCUL with renal cell carcinoma. We report a case of a 57-year-old woman, with multiple cutaneous leiomyomas as the presenting sign of Reed's syndrome. Medknow Publications & Media Pvt Ltd 2018 /pmc/articles/PMC5996637/ /pubmed/29937565 http://dx.doi.org/10.4103/ijd.IJD_69_18 Text en Copyright: © 2018 Indian Journal of Dermatology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Almeida, Filipa Tavares
Santos, Rui P
Carvalho, Sofia D
Brito, Maria C
Reed's Syndrome
title Reed's Syndrome
title_full Reed's Syndrome
title_fullStr Reed's Syndrome
title_full_unstemmed Reed's Syndrome
title_short Reed's Syndrome
title_sort reed's syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996637/
https://www.ncbi.nlm.nih.gov/pubmed/29937565
http://dx.doi.org/10.4103/ijd.IJD_69_18
work_keys_str_mv AT almeidafilipatavares reedssyndrome
AT santosruip reedssyndrome
AT carvalhosofiad reedssyndrome
AT britomariac reedssyndrome

Ejemplares similares