Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness.
Ehlers-Danlos syndrome (EDS) encompasses a genetically and clinically heterogeneous group of connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility and tissue fragility. It is a rare condition, and inheritance is either autosomal dominant or recessive. Previously grouped into 11 different subtypes, with increasing knowledge of the underlying molecular defects, it was reclassified in 1997 into 6 major groups, with type VIII excluded from this classification. Type VIII EDS is a very rare subtype, characterized by severe, early-onset periodontitis, skin fragility and abnormal scarring. Voice abnormalities have occasionally been described in other forms of the condition, and may be due to defects in the collagen of the vocal ligament. We report two cases of patients with EDS type VIII and hoarseness.
Department of Dermatology, Eastbourne District General Hospital, Eastbourne, UK. susannah@susannahgeorge.net.
S M C
SM
George
Maritime Medical Genetics Service, Halifax, NS, Canada.
A
A
Vandersteen
Department of Cellular Pathology, North West London Hospitals NHS Trust, Harrow, UK.
E
E
Nigar
Nuffield Department of Clinical Laboratory Science, Oxford University, John Radcliffe Hospital, Oxford, UK.
D J P
DJ
Ferguson
Department of Dermatology, Brighton and Sussex University Hospitals NHS Trust, Brighton, UK.
E J
EJ
Topham
North West Thames Regional Genetics Centre, North West London Hospitals NHS Trust, Harrow, UK.
F M
FM
Pope
D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000473:pathology*; D005260:Female; D006685:Hoarseness / Q000209:etiology*; D006801:Humans; D008297:Male; D055815:Young Adult