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

2017 ◽  
Vol 58 (4) ◽  
pp. e246-e248 ◽  
Author(s):  
Rachel Yi Ping Tan ◽  
Maie Walsh ◽  
Anne Howard ◽  
Ingrid Winship
Keyword(s):  
Fumarate Hydratase ◽  
Splice Mutation ◽  
Cutaneous Leiomyomas

scholarly journals A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Christin B. Laufer ◽  
Layne B. Green ◽  
Darren E. Whittemore
Keyword(s):  
Novel Mutation ◽  
Fumarate Hydratase ◽  
Uterine Fibroids ◽  
Papillary Renal Cell Carcinoma ◽  
Young Female ◽  
Cancer Predisposition Syndrome ◽  
Dermatology Clinic ◽  
Underlying Malignancy ◽  
History Of ◽  
Cutaneous Leiomyomas

Reed syndrome is a heritable cancer predisposition syndrome that can easily be missed due to its simple presentation of tender red papules. We present a young female with a history of uterine fibroids who presented to the dermatology clinic with several painful pink papules that had been previously evaluated by multiple physicians. Biopsy results were diagnostic for cutaneous leiomyomas, raising clinical suspicion for Reed syndrome. She was found to have a novel heterozygote mutation in her fumarate hydratase gene, supporting the diagnosis. This case demonstrates the importance of rendering a proper workup for seemingly innocent skin complaints as they could be associated with an underlying malignancy. Despite the fact that up to 16% of patients can develop aggressive type 2 papillary renal cell carcinoma, there are currently no consensus guidelines on screening or patient management.

Two patients with presumed HLRCC presenting with multiple fumarate hydratase deficient cutaneous leiomyomas

Pathology ◽  
2018 ◽  
Vol 50 ◽  
pp. S131
Author(s):  
L.Q. Zhuang ◽  
F. Maclean ◽  
A.J. Gill ◽  
M. Gorji
Keyword(s):  
Fumarate Hydratase ◽  
Cutaneous Leiomyomas

Novel splice site mutation in the fumarate hydratase (FH) gene is associated with multiple cutaneous leiomyomas in a Japanese patient

2015 ◽  
Vol 43 (1) ◽  
pp. 85-91 ◽  
Author(s):  
Yukina Yoshinaga ◽  
Hiroyuki Nakai ◽  
Ryota Hayashi ◽  
Akiko Ito ◽  
Naoyuki Kariya ◽  
...  
Keyword(s):  
Splice Site ◽  
Japanese Patient ◽  
Fumarate Hydratase ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Cutaneous Leiomyomas

Homozygous Splice Mutation in CWF19L1 in Two Brothers with Autosomal Recessive Cerebellar Ataxia

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
A. Enderli ◽  
B. Heinrich ◽  
P. Joset ◽  
J. De Geyter ◽  
J. Scheer ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Splice Mutation ◽  
Autosomal Recessive Cerebellar Ataxia

A Case of Multiple Cutaneous Leiomyomas with Uterine Myomas

2016 ◽  
Vol 78 (1) ◽  
pp. 36-39
Author(s):  
Keiko SAKAMOTO ◽  
Miki KOHNO ◽  
Akari SHIGYO ◽  
Masutaka FURUE
Keyword(s):  
Uterine Myomas ◽  
Cutaneous Leiomyomas
Sign in / Sign up

Export Citation Format

Share Document