Ehlers-Danlos syndrome

• Neuropsychological Function and the Relationship Between Subjective Cognition, Objective Cognition, and Symptoms in Hypermobile Ehlers-Danlos Syndrome

  CONCLUSION: We conclude that cognitive difficulties reported by individuals with hEDS are likely fluctuating and may correspond with fluctuating symptoms including dysautonomia, pain, and sleep difficulties. Furthermore, subjective cognition appears to be especially correlated with other related symptoms of mood, pain, and fatigue.

• A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project

  CONCLUSIONS: Besides reporting 17 novel variants in 14 genes (BLM, CACNA1B, EDA, ELN, ENG, ERC6, EVC2, PNPLA1, PITCH1, PORCN, SIN3A, TP63, TYR, and WNT10B), the study also identified three atypical clinical presentations due to dual diagnoses, and the c.454C>T variant in the SDR9C7 gene, previously reported only in dogs, was, for the first time, confirmed as causative for ichthyosis in humans.

• Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing

  Background/Objectives: Hypermobile Ehlers-Danlos syndrome (hEDS) is the most common subtype of Ehlers-Danlos syndromes (EDS), a heterogeneous group of hereditary connective tissue disorders. The hallmark features of hEDS include generalized joint hypermobility (GJH), soft or velvety skin, and persistent joint pain. The molecular etiology of hEDS remains unknown, and diagnosis is primarily clinical. The updated diagnostic criteria for hEDS requires the fulfillment of three criteria: (1) GJH, (2)...

• Arthroscopic Capsular Plication for Atraumatic Instability results in improved Patient Reported Outcome Measures

  The purpose of this study was to evaluate patient-reported outcomes (PROs) after arthroscopic capsulolabral plication in patients with atraumatic instability (AI). A retrospective review of 282 cases from 2012 to 2020 identified 45 patients meeting inclusion criteria. The cohort was 60% female with mean age and body mass index of 25.4 years and 25.5 kg/m2, respectively. Postoperative assessment showed significant improvements in shoulder function and pain with a mean American Shoulder and Elbow...

• Correction: The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome

  No abstract

• Outcomes after Surgical Management of Large Joint Manifestations in Ehlers Danlos Syndrome and Hypermobility Conditions in Sports Medicine: a Systematic Review

  PURPOSE OF REVIEW: Joint hypermobility can increase complications in surgical management of musculoskeletal conditions. The purpose of this review is to 1) summarize clinical outcomes in patients undergoing various Orthopedic sports medicine surgical procedures by joint, and 2) compare outcomes in patients with and without hypermobility.

• Hematomas after coughing: a case description of vascular Ehlers-Danlos syndrome

  No abstract

• Clinical Practice Updates: AGA Clinical Practice Update on GI Manifestations and Autonomic or Immune Dysfunction in Hypermobile Ehlers-Danlos Syndrome: Expert Review

  DESCRIPTION: The purpose of this Clinical Practice Update Expert Review is to describe key principles in the evaluation and management of patients with disorders of gut-brain interaction (DGBI) and hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSDs) with coexisting postural orthostatic tachycardia syndrome (POTS) and/or mast cell activation syndrome (MCAS).

• Lack of overt bleeding or platelet dysfunction in a mouse model of vascular Ehlers-Danlos syndrome

  No abstract

• Vascular Ehlers-Danlos syndrome: a heritable condition with potentially fatal consequences

  No abstract

• Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6-Related Disorders: Clinical Experience and Literature Review

  CONCLUSIONS: Selecting the STV as the LIV is recommended in spinal surgeries for patients with B3GALT6-related disorders, considering the characteristic joint hypermobility associated with the condition. Additionally, preoperative Halo-pelvic traction may also be safe and effective. Furthermore, preoperative molecular diagnosis is essential for enabling precision medicine and minimizing complications.

• Revisiting Ehlers-Danlos Syndrome as a Relative Contraindication to Elective Plastic Surgery: A Retrospective Matched Cohort Study

  CONCLUSIONS: Elective plastic surgery can be performed safely in patients with EDS, particularly those with hypermobile EDS.

• Association of postural orthostatic tachycardia syndrome, hypermobility spectrum disorders, and mast cell activation syndrome in young patients; prevalence, overlap and response to therapy depends on the definition

  CONCLUSION: Using overly strict criteria to diagnose conditions which have a high prevalence of co-occurrence misses opportunities for potential therapeutic strategies.

• Management of Direct Internal Carotid-Cavernous Sinus Fistula in a Patient with Ehlers-Danlos Syndrome: A Case Study on Selective Transvenous Embolization Using Coils and N-Butyl-2-Cyanoacrylate

  CONCLUSION: Utilizing a combination of coils and NBCA in TVE is seen as a safe and efficient method for addressing CCF in patients with EDS. It enables preserving better visualization of the cavernous sinus and adjacent structures, making this approach particularly effective. By keeping a close watch, monitoring for potential high-risk complications, and strategically placing devices between the arterial and venous sides, the arterial puncture profile is reduced, enabling safer endovascular...

• Musculocontractural Ehlers-Danlos Syndrome

  CLINICAL CHARACTERISTICS: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is characterized by multiple congenital contractures, progressive foot and ankle deformities, hypermobility of the small joints, recurrent dislocations, spinal deformities, characteristic craniofacial features (large anterior fontanel with delayed closure, short and downslanted palpebral fissures, hypertelorism, blue sclera, low-set posteriorly rotated ears, short nose with hypoplastic columella, long philtrum, thin...