Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by hyperextensibility, delayed wound healing, joint hypermobility, thin skin, easy bruising, tissue fragility, "cigarette-paper" scarring over bony prominences, mitral valve prolapse, and other findings. There are 6 main types of EDS. Regardless of presentation as a chief concern or an incidental finding, physicians should be aware that the prominent skin findings of EDS are cutaneous signs of an important systemic disorder.
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BMJ Open
January 2025
Regional Center of Ehlers-Danlos Syndrome, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Objective: This study investigates the prevalence and underlying factors of fatigue in individuals with Marfan syndrome (MFS) and hypermobile Ehlers-Danlos syndromes (hEDS), highlighting the necessity for focused research on this symptom within these patient populations.
Design: Cross-sectional, multicentre study.
Setting: Data were collected from participants diagnosed with MFS or hEDS across multiple healthcare centres.
BMJ Case Rep
January 2025
Medical Department, Lyell McEwin Hospital, Elizabeth Vale, South Australia, Australia.
Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders associated with skin, ligament, blood vessel and organ abnormalities. Skin hyperextensibility, joint hypermobility and widened atrophic scars are characteristic of classical EDS. Vascular complications, though rare in classical EDS, can be life-threatening, and this necessitates one to look for vascular associations in non-vascular, such as classical, forms of EDS due to the heterogeneity of the syndrome.
View Article and Find Full Text PDFJMIR Hum Factors
December 2024
Center for Bioethics, Indiana University School of Medicine, Indianapolis, IN, United States.
Background: The rarity that is inherent in rare disease (RD) often means that patients and parents of children with RDs feel uniquely isolated and therefore are unprepared or unsupported in their care. To overcome this isolation, many within the RD community turn to the internet, and social media groups in particular, to gather useful information about their RDs. While previous research has shown that social media support groups are helpful for those affected by RDs, it is unclear what these groups are particularly useful or helpful for patients and parents of children with RDs.
View Article and Find Full Text PDFSkinmed
January 2025
Department of Dermatology, Mater Dei Hospital, Msida, Malta.
A 39-year-old woman presented to the dermatology department in January 2022 with a 3-week history of a progressively enlarging and intensely pruritic erythematous annular nodule on her left hand. The lesion started as a small blister, which was initially presumed to be a flare up of her pompholyx dermatitis. On her physician's advice, she applied clobetasol propionate ointment twice daily for 5 days; however the blister continued to increase in size until it burst, revealing raw inflamed skin.
View Article and Find Full Text PDFAliment Pharmacol Ther
January 2025
Department of Gastroenterology and Hepatology, Maastricht University Medical Centre, Maastricht, The Netherlands.
Hypermobility spectrum disorders (HSD) and hypermobility Ehlers-Danlos syndrome (hEDS) are frequently associated with gastrointestinal symptoms, although the underlying mechanisms remain unclear. This study aimed to compare antroduodenal motility in patients with and without HSD/hEDS. We included 239 patients (50 HSD/hEDS and 189 non-HSD/hEDS) with gastrointestinal symptoms undergoing antroduodenal manometry (ADM).
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