Gastric leiomyoma and hyperplastic polyposis coli in a patient with multiple cutaneous and uterine leiomyomatosis.
BACKGROUND
Cutaneous leiomyomatosis has been associated with multiple uterine myomas and, more recently, with germline heterozygous mutations of the FH gene and certain types of renal cancer. Despite the growing amount of knowledge concerning this genodermatosis, its clinical spectrum remains incompletely characterized.


OBJECTIVE
We report the observation of a patient with multiple cutaneous and uterine leiomyomatosis (MCUL) with unusual gastrointestinal manifestations.


RESULTS
A gastric leiomyoma was diagnosed on a 38-year-old female MCUL patient on endoscopy performed because of mild dyspepsia. Furthermore, routine colonoscopy disclosed hyperplastic polyposis. Genetic testing revealed a previously not reported mutation of the FH gene.


CONCLUSIONS
Gastrointestinal lesions such as the present ones are frequently asymptomatic and probably underdiagnosed. As the phenotypical spectrum associated with mutations of the FH gene keeps expanding, clinicians should keep in mind that, besides renal cancer, other unexpected tumors could also arise in this setting.
Department of Dermatology, Gastroenterology and Pathology, Hospitais da Universidade de Coimbra, Portugal. david.serra.fernandes@gmail.com
David
D
Serra
Pedro
P
Amaro
Margarida
M
Gonçalo
Mário
M
Silva
Barbara
B
Ferrando
Barbara
B
Pasini
Américo
A
Figueiredo
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D000328:Adult; D003062:Codon; D003113:Colonoscopy; D016099:Endoscopy, Gastrointestinal; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics*; D006801:Humans; D007889:Leiomyoma / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D018231:Leiomyomatosis / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D009154:Mutation; D013274:Stomach Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery
D003062:Codon; D005649:Fumarate Hydratase