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

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 leiomyomas 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.