title: Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease.
abstract: Multiple cutaneous and uterine leiomyomatosis (MCUL)/hereditary leiomyomatosis and renal cell cancer (HLRCC) (OMIM 150800/OMIM 605839) is a rare hereditary disorder leading to the development of benign cutaneous and uterine smooth muscle tumours in young adults.(1,2) This disease is characterized by an increased risk of developing renal cell carcinomas.(3) It results from dominantly inherited autosomal mutations in the fumarate hydratase (FH) gene.(4) This gene encodes a Krebs cycle enzyme, present in both cytosolic and mitochondrial compartments, and probably acts as a tumour suppressor gene. We report a 22-year-old man affected by cutaneous leiomyomatosis associated with cutis verticis gyrata, disseminated collagenoma and Charcot-Marie-Tooth disease, who was harbouring the novel FH gene mutation c.821C > T, p.Ala274Val.
authors.affiliation: Service de Dermatologie, Université de Montpellier 1, CHU Montpellier, Montpellier, France. myriammarque@yahoo.fr
authors.forename: M
authors.initials: M
authors.lastname: Marque
authors.forename: B
authors.initials: B
authors.lastname: Gardie
authors.forename: B
authors.initials: B
authors.lastname: Bressac de Paillerets
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: B
authors.initials: B
authors.lastname: Guillot
authors.forename: S
authors.initials: S
authors.lastname: Richard
authors.forename: D
authors.initials: D
authors.lastname: Bessis
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D003095:Collagen Diseases / Q000235:genetics; D005649:Fumarate Hydratase / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D018231:Leiomyomatosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D012536:Scalp Dermatoses / Q000235:genetics; D017422:Sequence Analysis, DNA; D012871:Skin Diseases / Q000235:genetics*; D012878:Skin Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
chemical_list: D005649:Fumarate Hydratase