Evidence for a New Fumarate Hydratase Gene Mutation in a Unilateral Type 2 Segmental Leiomyomatosis

Parmentier, Laurent; Tomlinson, Ian; Happle, Rudolf; Borradori, Luca

doi:10.1159/000315068

Cited by 7 publications

(8 citation statements)

References 39 publications

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“…Interestingly, patients with FH mutations do not only manifest a diffuse and symmetric presentation of their cutaneous leiomyomas, but they also show multiple leiomyomas distributed according to a segmental pattern, usually following the lines of Blaschko. The segmental phenotype that was observed most likely reflects a type 2 segmental leiomyomatosis as previously reported for other autosomal dominantly inherited skin diseases [9]. Only about 60% of these variants are related to MRUL/HRCC syndrome.…”

Section: Discussionsupporting

confidence: 68%

A Novel Missense Mutation in Fumarate Hydratase in an Italian Patient with a Diffuse Variant of Cutaneous Leiomyomatosis (Reed’s Syndrome)

Rongioletti¹,

Fausti²,

Ferrando

et al. 2010

Dermatology

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Background: The multiple cutaneous and uterine leiomyomatosis syndrome (MCUL) is a rare autosomal dominant condition characterized by cutaneous leiomyomatosis in both sexes and uterine leiomyomas in women. This syndrome overlaps with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. Methods: We report an Italian family in which the finding of multiple cutaneous leiomyomas in the proband, a 46-year-old woman, led to the diagnosis of Reed’s syndrome and to a general and genetic screening. Results: DNA sequencing in the proband disclosed a missense mutation designated p.Asp341Tyr that has not been reported previously. Interestingly, the patient’s mother had a clear-cell-type renal cancer removed at the age of 57 years. Conclusion: Cutaneous leyomiomas are the clinical and histological clue leading to the diagnosis of MCUL or HLRCC. Dermatologists should be aware that a correct evaluation of a patient with cutaneous leiomyomas involves a complete medical and family history, physical examination and a genetic counseling.

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Section: Discussionsupporting

confidence: 68%

A Novel Missense Mutation in Fumarate Hydratase in an Italian Patient with a Diffuse Variant of Cutaneous Leiomyomatosis (Reed’s Syndrome)

Rongioletti¹,

Fausti²,

Ferrando

et al. 2010

Dermatology

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“…[3][4][5] In the present patient no renal cancer could be detected. The case seems to be a sporadic mutation since no other family members are affected so far.…”

supporting

confidence: 39%

“…3,4 Two segmental types have been described: -type 1 with a segmental distribution of cutaneous tumors due to heterozygosity for the mutation(s); -type 2 where loss of heterozygosity leads to homo-or hemizygosity, with a pronounced segmental arrangement in conjunction with disseminated tumors.…”

Section: Discussionmentioning

confidence: 99%

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Reed’s syndrome: segmental piloleimyomas type 1 and uterus myomatosus

Wollina¹,

Schönlebe²

2014

J Dermatol Case Rep

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Background: Cutaneous mosaicism is a possible cause of segmental skin diseases. Cutaneous leiomyomatosis represent a spectrum of conditions ranging from single lesions to disseminated wide distribution. Reed's syndrome, is an autosomal dominant disorder characterized by multiple cutaneous and uterine leiomyomas. Main observation:We observed a segmental cutaneous piloleimyomatosis type 1 in a 55-year old female who had an uterus extirpation because of uterine leiomyomas. The cutaneous lesions were moderately painful and localized on her left upper trunk. They presented as firm nodules and small plaques in a linear arrangement. Renal cancer was excluded. Conclusion:In patients with multiple cutaneous (pilo)leiomyomas a search for underlying systemic diseases is necessary in order to not miss benign or malignant tumors of internal organs. (J Dermatol Case Rep. 2014; 8(3): 67-69) Reed's syndrome: segmental piloleimyomas type 1 and uterus myomatosus

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“…FH converts fumarate to malate in the Krebs cycle, and is also thought to act as a suppressor of tumor genes [10, 11, 12]. Association of this syndrome with renal cell carcinoma has recently been highlighted [13, 14].…”

Section: Discussionmentioning

confidence: 99%

A Case of Reed's Syndrome: An Underdiagnosed Tumor Disorder

et al. 2014

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Cutaneous leiomyomas are uncommon, benign smooth muscle tumors originating from the arrector pili muscle of the hair follicle that are frequently unrecognized and underdiagnosed by clinicians. They sometimes coexist with common uterine fibroids in an inherited disorder named multiple cutaneous and uterine leiomyomatosis, also referred to as Reed's syndrome. We report a case of Reed's syndrome in a young woman who had been misdiagnosed for many years.

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Evidence for a New Fumarate Hydratase Gene Mutation in a Unilateral Type 2 Segmental Leiomyomatosis

Cited by 7 publications

References 39 publications

A Novel Missense Mutation in Fumarate Hydratase in an Italian Patient with a Diffuse Variant of Cutaneous Leiomyomatosis (Reed’s Syndrome)

A Novel Missense Mutation in Fumarate Hydratase in an Italian Patient with a Diffuse Variant of Cutaneous Leiomyomatosis (Reed’s Syndrome)

Reed’s syndrome: segmental piloleimyomas type 1 and uterus myomatosus

A Case of Reed's Syndrome: An Underdiagnosed Tumor Disorder

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