Reed’s Syndrome

Pacific, Kristen; Emer, Jason

doi:10.1007/978-1-4614-8344-1_32

Cited by 1 publication

(3 citation statements)

References 38 publications

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“…The syndrome is caused by a germline mutation in the fumarate hydratase gene, which encodes for an enzyme in the citric acid cycle ( 1 ). At least 100 families have been identified worldwide with HLRCC, the majority being of Eastern European descent ( 2 , 3 ). In a subset of families with the germline FH mutation, over 75% had cutaneous leiomyomas, more than 60% had renal-cell carcinoma, and all of the female carriers had uterine leiomyomas ( 3 ).…”

Section: Discussionmentioning

confidence: 99%

“…Cutaneous leiomyomas are rare in the general population. Therefore, any patient who presents with these should undergo a thorough physical exam and history and be screened for renal tumors ( 3 ). Single cutaneous leiomyomas can be excised, but they commonly recur after removal.…”

Section: Discussionmentioning

confidence: 99%

“…Single cutaneous leiomyomas can be excised, but they commonly recur after removal. Cryotherapy and electrocoagulation may be considered with multiple lesions, but can cause extensive scarring ( 3 , 4 ). Female patients with HLRCC should be evaluated for uterine disease.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Concurrent renal-cell carcinoma and cutaneous leiomyomas: A case of HLRCC

Fondriest

Gowdy

Goyal

et al. 2015

Radiology Case Reports

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A 51-year-old Caucasian female presenting with renal-cell cancer and cutaneous leiomyomas was later diagnosed with Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome. HLRCC is an autosomal dominant condition caused by a mutation in the fumarate hydratase gene, which encodes for an enzyme in the citric acid cycle. This syndrome has been reported in over 100 families throughout the world, the majority of whom are of Eastern European descent. Those with this syndrome have a significantly increased risk of developing renal-cell carcinoma, cutaneous leiomyomas, and uterine leiomyomas, and a smaller chance of developing uterine leiomyosarcomas. This syndrome has a relatively poor prognosis, with tumor metastasis occurring in approximately 50% of patients. However, more aggressive prophylactic measures and recent studies have shown potential to improve patient prognosis.

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