Margarida Maia, PhD, science writer —

Doctors should consider the possibility of vascular Ehlers–Danlos syndrome (EDS) when seeing a patient with recurrent pneumothorax — the presence of air in the space between the lungs and the chest wall — that’s resistant to conventional therapy, according to a case report. The report described a 19-year-old man…

A type of mutation not usually considered when screening possible cases of classical Ehlers–Danlos syndrome (EDS) was found to underlie the disease in a child whose parents did not carry the mutation. The findings call for a broadening of the portfolio of mutations in genetic testing, researchers said.

Joint hypermobility syndrome, including hypermobile Ehlers–Danlos syndrome (hEDS), is present in a large proportion of people with functional dyspepsia — a common gastrointestinal disorder also known as indigestion without an underlying cause, a study showed. The presence of joint hypermobility, however, does not significantly prevent the digestive system from working…

A new mutation causing classical Ehlers-Danlos syndrome (EDS) has been identified in a child whose parents did not carry the mutation. The mutation is of a type known to cause more severe symptoms. The case report, “Glycine substitution mutation of COL5A1 in classic Ehlers–Danlos syndrome: a case report…