People with classical-like Ehlers-Danlos syndrome type 1 (clEDS1) have an increased risk of gastrointestinal tract (GI) complications, according to a new case series. Ten of the 15 investigated patients had at least one spontaneous intestinal perforation and nearly all had diverticulosis, or small pouches that push outward through weak…

Abnormally high sensitivity of a type of sensory nerve fibers is behind the heightened pain responses to harmless light touch that were observed in a mouse model of classical-like Ehlers-Danlos syndrome (clEDS), a study shows. This abnormal pain sensation, called mechanical allodynia, is a main symptom of neuropathic pain…

A collapsed lung and a new TNXB gene mutation were identified for the first time in a patient diagnosed with classical-like Ehlers-Danlos syndrome (clEDS), according to a recent case report. The report, “Recurrent pneumothorax in case of tenascin-X deficient Ehlers-Danlos syndrome:…

Note: This story was updated April 1, 2021, to note that the patient’s medical history included an inflammation of the peritoneum, not the perineum. Physicians should determine a patient’s specific type of Ehlers-Danlos syndrome (EDS) by identifying the underlying genetic mutations, as this is needed to best manage possible…

Patients with classical-like Ehlers-Danlos syndrome (EDS) due to tenascin-X deficiency, a rare form of EDS, are at risk for tissue fragility especially in the gastrointestinal tract, a study has found. The study, “Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue…

Lack of the protein tenascin X (TNX) associated with classical-like Ehlers-Danlos syndrome (EDS) promotes higher pain sensitivity to tactile and chemical stimuli and aggravates inflammatory pain, a study in mice shows. These findings add knowledge to the mechanisms behind chronic pain in classical-like EDS and may help to identify other…

A newly identified mutation in the TNXB gene, which leads to the loss of the Tenascin X protein, is associated with the development of classical-like Ehlers-Danlos syndromes (EDS), a rare subtype of EDS, according to a case report. The report, “Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due…