Literature DB >> 32556350

An Aggressive Clinical Presentation of Familial Leiomyomatosis Associated with a Fumarate Hydratase Gene Variant of Uncertain Clinical Significance.

Federica Scarfi1, Ana Paula Orozco, Alessia Visconti, Veronique Bataille.   

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Year:  2020        PMID： 32556350      PMCID： PMC9199906          DOI： 10.2340/00015555-3573

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


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  15 in total

1.  Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.

Authors:  Lacy L Sommer; Rhonda E Schnur; Warren R Heymann
Journal:  J Dermatol Case Rep       Date:  2016-11-30

2.  Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC.

Authors:  Rachel Yi Ping Tan; Maie Walsh; Anne Howard; Ingrid Winship
Journal:  Australas J Dermatol       Date:  2017-03-07       Impact factor: 2.875

3.  Familial cutaneous leiomyomatosis in multiple generations with varied morphological presentations.

Authors:  T Goyal; A Varshney; S K Bakshi; V Zawar
Journal:  J Eur Acad Dermatol Venereol       Date:  2015-03-24       Impact factor: 6.166

Review 4.  Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review.

Authors:  Viral M Patel; Marc Z Handler; Robert A Schwartz; W Clark Lambert
Journal:  J Am Acad Dermatol       Date:  2017-03-14       Impact factor: 11.527

5.  Treatment of multiple cutaneous leiomyomas with CO2 laser ablation.

Authors:  L J Christenson; K Smith; C J Arpey
Journal:  Dermatol Surg       Date:  2000-04       Impact factor: 3.398

Review 6.  Potential genetic anticipation in hereditary leiomyomatosis-renal cell cancer (HLRCC).

Authors:  Mei Hua Wong; Chuen Seng Tan; Soo Chin Lee; Yvonne Yong; Aik Seng Ooi; Joanne Ngeow; Min Han Tan
Journal:  Fam Cancer       Date:  2014-06       Impact factor: 2.375

7.  Isolated cutaneous leiomyosarcoma revealing a novel germline mutation of the fumarate hydratase gene.

Authors:  L Weiler; N Poulalhon; A Slama; M Guillaud-Bataille; L Thomas
Journal:  Br J Dermatol       Date:  2016-08-30       Impact factor: 9.302

8.  Immunohistochemical Characterization of Fumarate Hydratase (FH) and Succinate Dehydrogenase (SDH) in Cutaneous Leiomyomas for Detection of Familial Cancer Syndromes.

Authors:  Cody S Carter; Stephanie L Skala; Arul M Chinnaiyan; Jonathan B McHugh; Javed Siddiqui; Xuhong Cao; Saravana M Dhanasekaran; Douglas R Fullen; Amir Lagstein; May P Chan; Rohit Mehra
Journal:  Am J Surg Pathol       Date:  2017-06       Impact factor: 6.394

9.  Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome).

Authors:  Tina Hsu; Lynn A Cornelius; Ilana S Rosman; Kathleen M Nemer
Journal:  JAAD Case Rep       Date:  2017-08-30

Review 10.  Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.

Authors:  J A Hol; M C J Jongmans; A S Littooij; R R de Krijger; R P Kuiper; J J T van Harssel; A Mensenkamp; M Simons; G A M Tytgat; M M van den Heuvel-Eibrink; M van Grotel
Journal:  Fam Cancer       Date:  2020-01       Impact factor: 2.375
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