Case of hereditary leiomyomatosis and renal cell cancer showing multiple cutaneous leiomyomas harboring a recurrent nonsense mutation in the fumarate hydratase gene

J Dermatol. 2022 Jan;49(1):e42-e43. doi: 10.1111/1346-8138.16223. Epub 2021 Nov 9.

Authors

Shoko Mai¹, Teruki Yanagi¹, Mayuna Shimano¹, Wataru Nishie¹, Ken Arita², Hideyuki Ujiie¹

Affiliations

¹ Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
² Kobayashi Skin Clinic, Sapporo, Japan.

PMID: 34755393
DOI: 10.1111/1346-8138.16223

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Carcinoma, Renal Cell*
Codon, Nonsense
Female
Fumarate Hydratase / genetics
Humans
Kidney Neoplasms*
Leiomyomatosis* / diagnosis
Leiomyomatosis* / genetics
Mutation
Neoplasm Recurrence, Local
Neoplastic Syndromes, Hereditary* / diagnosis
Neoplastic Syndromes, Hereditary* / genetics
Skin Neoplasms* / genetics
Uterine Neoplasms* / diagnosis
Uterine Neoplasms* / genetics

Substances

Codon, Nonsense
Fumarate Hydratase

Supplementary concepts

Hereditary leiomyomatosis and renal cell cancer