Reed's Syndrome
- PMID: 29937565
- PMCID: PMC5996637
- DOI: 10.4103/ijd.IJD_69_18
Reed's Syndrome
Abstract
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.
Keywords: Fumarate hydratase; leiomyomatosis; renal cell cancer.
Conflict of interest statement
There are no conflicts of interest. What is new? Patients with Reed1s syndrome may be predisposed to develop renal cysts.
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References
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- Arenas Valencia C, Rodríguez López ML, Cardona Barreto AY, Garavito Rodríguez E, Arteaga Díaz CE. Hereditary leiomyomatosis and renal cell cancer syndrome: Identification and clinical characterization of a novel mutation in the FH gene in a Colombian family. Fam Cancer. 2017;16:117–22. - PubMed
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