title: Ehlers-Danlos syndrome combined with von Recklinghausen neurofibromatosis.
abstract: We recently had the opportunity to study a 25-year-old male with both Ehlers-Danlos syndrome (EDS) and von Recklinghausen neurofibromatosis (VRNF). We describe the clinical manifestations of the case and discuss the probable pathomechanism of the combination of the two syndromes, with a review of the literature. As recent literature suggests that both syndromes are linked to chromosome 17, we conclude that their combination is not coincidental, but genetically linked.
authors.affiliation: Department of Internal Medicine, Kagoshima Medical Association Hospital, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Hashiguchi
authors.forename: I
authors.initials: I
authors.lastname: Maruyama
authors.forename: K
authors.initials: K
authors.lastname: Sonoda
authors.forename: H
authors.initials: H
authors.lastname: Nakashima
authors.forename: N
authors.initials: N
authors.lastname: Nakamura
authors.forename: Y
authors.initials: Y
authors.lastname: Sonoda
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: D000328:Adult; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics / Q000473:pathology