Ehlers-Danlos syndrome combined with von Recklinghausen neurofibromatosis.
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.
Hashiguchi
T
T
Department of Internal Medicine, Kagoshima Medical Association Hospital, Japan.
Maruyama
I
I
Sonoda
K
K
Nakashima
H
H
Nakamura
N
N
Sonoda
Y
Y
Osame
M
M
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