We describe a 19-year-old male, with a family history of both systemic lupus erythematosus and Marfan syndrome, who had a history of bruising easily and skin lesions since childhood. He had a spontaneous colonic perforation at the age of 16 years, followed 3 years later by sudden development of bilateral renal infarctions and hypertension, which on angiography were found to be due to dissection of both renal arteries. Transient elevations of 3 types of antiphospholipid antibodies (aPL) were detected. Skin biopsy showed typical elastosis perforans serpiginosa. The history together with the generalized connective tissue phenotype, histology, and angiographic features combined to establish a diagnosis of vascular Ehlers-Danlos syndrome, type IV; the body habitus resembled the phenotypically-related condition of Marfan syndrome. The coincidental finding of transient aPL elevations combined to make this a difficult diagnostic and clinical management problem.
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Gynecol Oncol Rep
February 2025
Department of Obstetrics and Gynecology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
Introduction: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare autosomal recessive connective tissue disorder caused by systemic depletion of dermatan sulfate. Symptoms characteristic of mcEDS include multiple contractures, fragile skin with subcutaneous bleeding, and hypermobile joints, which suggest difficulty in perioperative management. However, safe surgical techniques and perioperative management of this disorder remain unknown because of its rarity.
View Article and Find Full Text PDFEur J Vasc Endovasc Surg
January 2025
Universitat Autònoma de Barcelona (UAB), Bellaterra, Spain; Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain; Department of Vascular, Endovascular Surgery and Angiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Electronic address:
Objective: Abdominal aortic aneurysm (AAA) in a patient with an underlying heritable aortic disease (HAD) is rare, and evidence based recommendations for its management are lacking. This study aimed to generate a consensus from multidisciplinary specialists on the diagnosis, treatment, and surveillance of AAA associated with HAD and to define topics of interest for future research.
Methods: A Delphi consensus was designed involving European multidisciplinary specialists and reported using the ACcurate COnsensus Reporting Document (ACCORD) reporting guideline.
SAGE Open Med
January 2025
Tufts University School of Medicine, Boston, MA, USA.
Objective: This study utilized a sample of trangender, nonbinary, and gender-diverse (TGD) patients to build on emerging literature that suggests that hypermobile Ehlers-Danlos syndrome may be overrepresented in TGD populations. The objective of this retrospective chart review was to determine the prevalence of hypermobile Ehlers-Danlos syndrome syndrome at a gender-affirming primary care clinic.
Methods: A retrospective chart review of medical records was conducted with records between May 2021 and June 2024.
Radiol Case Rep
March 2025
Radiology Department, University Hospital Center of Souss Massa, Faculty of Medicine and Pharmacy, Ibn Zohr Agadir University, Agadir, Morocco.
Fibromuscular Dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disorder predominantly affecting women aged 18 to 65 years. This case report highlights a 74-year-old female diagnosed with FMD incidentally during evaluation for deep vein thrombosis (DVT). Imaging revealed significant vascular anomalies, including a giant intracranial carotid aneurysm and a hypoplastic iliac vein with extensive collateral formation.
View Article and Find Full Text PDFJ Transl Med
January 2025
Division of Adolescent and Young Adult Medicine, Departments of Pediatrics, Johns Hokins University School of Medicine, 200 N. Wolfe St., Room 2077, Baltimore, MD, 21287, USA.
Background: We have noted that some adolescents and young adults with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) report difficulty with arms-overhead activities, suggestive of brachial plexus dysfunction or thoracic outlet syndrome (TOS). In the TOS literature, diagnostic maneuvers focus on the provocation of upper limb symptoms (arm fatigue and heaviness, paresthesias, neck and upper back pain), but not on elicitation of systemic symptoms.
Objectives: To estimate the proportion of patients with fatiguing illness who experience local and systemic symptoms during a common maneuver used in evaluating TOS-the elevated arm stress test (EAST).
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