title: Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome.
abstract: Medulloblastoma tumours may arise sporadically or as part of an inherited syndrome. A subset of children with medulloblastoma carry germline and somatic mutations in the SUFU tumour suppressor gene located at 10q24. We report a 55 year old woman referred for investigation on the basis of skin lesions and a family history of two children from different unions with medulloblastoma. Examination of our patient revealed facial papules (classified as benign folliculosebaceous hamartomatous lesions) and dysmorphology (macrocephaly, hypertelorism and prognathism). She reported her father and her son share the same dermatological features; photographs of the son display hypertelorism. Sequencing in our patient revealed a splice-site mutation in intron 6 of SUFU (c. 756+1G>A), predicted to lead to skipping of exon 6. We suggest that the emerging phenotype in SUFU associated with familial medulloblastoma may include hamartomatous skin lesions. Consideration of these features, along with macrocephaly will alert clinicians to the likely genetic basis of the syndrome, affording the opportunity for genetic counselling, prenatal or pre-implantation genetic diagnosis in at-risk families.
authors.affiliation: Genetic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Grattan Street, Parkville, VIC, 3050, Australia, kirsty.mann@mh.org.au.
authors.forename: Kirsty
authors.initials: K
authors.lastname: Mann
authors.forename: Jill
authors.initials: J
authors.lastname: Magee
authors.forename: Marine
authors.initials: M
authors.lastname: Guillaud-Bataille
authors.forename: Christophe
authors.initials: C
authors.lastname: Blondel
authors.forename: Brigitte
authors.initials: B
authors.lastname: Bressac-de Paillerets
authors.forename: Josie
authors.initials: J
authors.lastname: Yeatman
authors.forename: Ingrid
authors.initials: I
authors.lastname: Winship
mesh_terms: D001483:Base Sequence; D002528:Cerebellar Neoplasms / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008527:Medulloblastoma / Q000235:genetics; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012097:Repressor Proteins / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology*
chemical_list: D012097:Repressor Proteins; C490764:SUFU protein, human