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.

A novel missense mutation in fumarate hydratase in an italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome)

RONGIOLETTI, FRANCO;
2010

Abstract

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.
Cutaneous leiomyomatosis; Fumarate hydratase; Reed's syndrome; Carcinoma, renal cell; Female; Fumarate hydratase; Genetic predisposition to disease; Humans; Kidney neoplasms; Leiomyomatosis; Middle aged; Neoplastic syndromes, hereditary; Pedigree; Skin neoplasms; Uterine neoplasms; Mutation, Missense
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11584/165303
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