Results 21 to 30 of about 1,246,443 (148)
Interventional varicose vein therapy using endoluminal laser ablation (1940 nm) in patients with Ehlers-Danlos syndromes: two case reports. [PDF]
J Dtsch Dermatol GesSummary In patients with Ehlers‐Danlos syndrome, the presence of chronic venous insufficiency poses a particular challenge for physicians when determining the indication for surgical treatment. Due to vascular fragility, complications such as vascular tears or ruptures with difficult hemostasis and potentially life‐threatening consequences occur ...
Braß D, Tantcheva-Poór I, Stücker M.
europepmc +2 more sources
A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report
Italian Journal of Pediatrics, 2021 Background Ehlers-Danlos syndrome (EDS) represents a group of connective tissue disorders characterized by the fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and internal organ involvement.
Rosaura Conti +2 more
doaj +1 more source
The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report
Molecular Genetics &Genomic Medicine, Volume 11, Issue 2, February 2023., 2023 Genetic testing in the diagnostic setting of familial thoracic aortic aneurysm and dissections can sometimes reveal variants of uncertain significance (VUS), where not enough informative individuals are available to perform extensive segregational analysis. In this paper, we describe two families where we uncovered two VUS in the SMAD3 gene. We present
Aleksandra Ratajska +4 more
wiley +1 more source
The role of cutaneous manifestations in the diagnosis of the Ehlers‐Danlos syndromes
Skin Health and Disease, Volume 3, Issue 1, February 2023., 2023 Abstract The Ehlers‐Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with features of skin hyperextensibility, joint hypermobility, abnormal scarring and fragility of skin, blood vessels and some organs. The disease is generally diagnosed through the cluster of clinical features, though the addition of genetic
Natasha Stembridge +7 more
wiley +1 more source
Clinical Case Reports, Volume 10, Issue 11, November 2022., 2022 Multigene panel analysis helps to make the right diagnosis of an atypical and severe phenotype of classical Ehlers–Danlos syndrome (cEDS) with severe and progressive scoliosis and no atrophic scaring. This case extends the range of cEDS phenotypes. Abstract We described a novel de novo missense variant of the gene encoding Collagen alpha‐2(V) chain ...
Malika Foy +7 more
wiley +1 more source
Resource utilization and multidisciplinary care needs for patients with Ehlers–Danlos syndrome
Molecular Genetics &Genomic Medicine, Volume 10, Issue 11, November 2022., 2022 Those with Ehlers–Danlos syndrome (EDS) have many comorbid symptoms across multiple body systems. We surveyed patients with EDS and found they are high utilizers of healthcare, but their medical needs are not being met and they are interested in multidisciplinary care to meet their healthcare needs.
Jordan T. Jones +3 more
wiley +1 more source
Clinical Case Reports, Volume 10, Issue 5, May 2022., 2022 Abstract A young male patient presents with widespread pain and varying chronic inflammatory symptoms for three years and idiopathic low bone density for more than ten years. Based on the patient’s clinical history, the patient has been diagnosed with an hypermobile Ehlers–Danlos syndrome, postural orthostatic tachycardia syndrome, and mast cell ...
Cameron Rattray
wiley +1 more source
Journal of Cellular and Molecular Medicine, Volume 26, Issue 1, Page 144-150, January 2022., 2022 Abstract Vascular Ehlers‐Danlos syndrome (vEDS) is a rare and severe hereditary connective tissue disease arising from a mutation in the type III collagen alpha I chain (COL3A1) gene, with a poor prognosis due to exceptional vascular ruptures and premature death.
Mei Liang +4 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 187, Issue 4, Page 599-608, December 2021., 2021 Abstract Vulvodynia is debilitating vulvar pain accompanied by dyspareunia (pain with sexual intercourse). Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) may represent a predisposing factor for vulvodynia given a high rate of dyspareunia in these conditions.
Jennifer E. Glayzer +7 more
wiley +1 more source
Oral manifestations of Ehlers‐Danlos syndromes
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 187, Issue 4, Page 520-526, December 2021., 2021 Abstract Ehlers‐Danlos syndromes (EDS) are a group of inherited connective tissue disorders. Patients with EDS exhibit distinct pathologies of the teeth and the oral cavity. Here, we summarize the current knowledge in the various EDS types, in particular regarding severe changes in oral health‐related quality of life, the differential emergence of ...
Ulrike Lepperdinger +2 more
wiley +1 more source