A female patient, known to have hypermobile Ehlers-Danlos syndrome (hEDS), underwent several elective gastroscopies under sedation in different hospitals. Except for a single incident of mild laryngospasm during emergence, all procedures were uneventful. On that occasion, following the procedure in the postanesthesia care unit, the patient suffered severe airway obstruction, and standard airway rescue techniques exacerbated adequate ventilation. After the removal of all stimuli and maintaining only an indirect oxygen supply via a mask in front of her face, her airway improved, and the patient fully recovered after 17 minutes. After the gastroscopy, physical examination revealed that the patient had an extremely flexible trachea that could be completely moved outside the midline to the extreme right and left. For the subsequent procedures, an airway plan was developed in conjunction with the patient and resulted in uncomplicated perianesthetic care. This case report serves to alert readers to the risk of adverse airway events in patients with EDS and suggests an alternative approach to avoid such complications. When patients receive care in different hospitals, adequate documentation is essential and adequate preoperative assessment is crucial. This case study demonstrates the value of patient-coproduction care plans.

We describe the case of a young 33-year-old woman that was referred to our clinic for evidence of migrant cavitary nodules at CT scan, dyspnea, and blood sputum. Her physical examination showed translucent and thin skin, evident venous vascular pattern, vermilion of the lip thin, micrognathia, thin nose, and occasional Raynaud phenomenon. We prescribed another CT scan that showed multiple pulmonary nodules in both lungs, some of which had evidence of cavitation. Because bronchoscopy was not diagnostic, we decided to perform surgical lung biopsy. At histologic examination, we found the presence of irregularly shaped, but mainly not dendritic, foci of ossification that often contained bone marrow and were embedded or surrounded by tendinous-like fibrous tissue. After incorporating data from the histologic examination, we decided to perform genetic counseling and genetic testing with the use of whole-exome sequencing. The genetic test revealed a heterozygous de novo missense mutation of COL3A1 gene, which encodes for type III collagen synthesis, and could cause vascular Ehlers-Danlos syndrome.

BACKGROUND: Generalized joint hypermobility (GJH) can be the result of several hereditary connective tissue disorders, especially Ehlers-Danlos syndrome. Cerebrovascular manifestations are among the most common complications in this disorder, and understanding their extent can help better diagnosis and prevention of hazardous events. We investigated visual evoked potential (VEP) changes in patients with GJH and compared them with healthy individuals.
METHODS: Our case-control study included 90 patients who fulfilled the Beighton score (B score) for joint hypermobility and other 90 healthy participants. All of them went under VEP study, and the amplitude and latency of the evoked potential (P100) were compared to each other.
RESULTS: The Case group had significantly higher B score (7.18 ± 0.967 vs. 1.18 ± 0.712), P100 latency (110.23 ± 6.64 ms vs. 100.18 ± 4.273 ms), and amplitude (6.54 ± 1.26 mv vs. 6.50 ± 1.29 mv) compared with the Control group, but the difference was only significant regarding B score, and P100 latency (p-value <.0001). Moreover, both latency and amplitude of P100 had significantly positive correlations with the B score in the Case group (p-value <.0001), but such correlations were not found in the Control group (p-value = .059).
CONCLUSIONS: Our study could reveal VEP changes, especially significant P100 latency in GJH patients without previous neurologic or musculoskeletal disorders. Whether these changes are due to GJH itself or are predictive of inevitable neurologic disease or visual pathway involvement, particularly Multiple Sclerosis needs further investigation with longer follow-up periods.

Ehlers-Danlos syndrome is a disorder of collagen production that affects the connective tissues of the body. It can cause several conditions and severely affect patients\' quality of life and activities of daily living. Here, we present an unusual case of hemothorax in a patient with Ehlers-Danlos syndrome after sildenafil use. This manifested in shortness of breath and cough and prompted the patient to visit the emergency room. The hemothorax was treated surgically, and the patient recovered well. Sildenafil was initially prescribed via a telemedicine service without in-person consultation. It is important that physicans perform a thorough history and physical examination prior to prescribing medications to patients, especially those at risk for complications.

Vascular Ehlers-Danlos syndrome is a fatal disease caused by a type III collagen mutation that can result in the rupture of blood vessels, the intestinal tract, and/or the uterus. Despite being the most severe form of Ehlers-Danlos syndrome, it is not well known in the pediatric context because it rarely presents serious complications in childhood. In this case, the patient experienced a subclavian artery rupture triggered by sneezing, which was initially managed with an endovascular stent. However, the descending aorta subsequently ruptured, and the patient died. Traditionally, surgical or endovascular treatments have been avoided due to the inherent fragility of blood vessels. Nevertheless, favorable outcomes have been documented with a wait-and-see surgical approach or endovascular treatment, especially when the diagnosis precedes the onset of vascular complications. Notably, celiprolol, a partial β2-agonist and β1-blocker, has demonstrated efficacy in preventing vascular complications. Therefore, early diagnosis plays a pivotal role. Raising awareness about this syndrome, along with its management and prophylaxis, holds the potential to enhance the survival rate.

METHODS: We report the case of an 11-year-old boy with Ehlers-Danlos syndrome (EDC) who exhibited simultaneous medial and lateral patellar instability. The patient presented with a medial patellar dislocation, and subsequently, the patella became very unstable both medially and laterally. Despite distal realignment, the patellar instability was so significant that he underwent simultaneous reconstruction of the medial and lateral patellofemoral ligament using the semitendinosus tendon, with a good result.
CONCLUSIONS: Simultaneous reconstruction of the medial and lateral patellofemoral ligament is an effective method in cases of extreme patellar instability, such as the EDS case.

Ehlers-Danlos syndrome (EDS) type IV is a hereditary autosomal dominant disease associated with skin and vascular fragility, hyperextensibility and joint hypermobility. Spontaneous arterial rupture is one of its higher-risk features.The authors describe a case of a woman with EDS type IV who presented with a spontaneous breast haematoma associated with a pseudoaneurysm of a branch of the left internal mammary artery. The patient underwent a minimally invasive endovascular approach that was uneventful. However, 6 months later, she presented in the emergency room with a similar episode on the contralateral breast. There were no signs of active bleeding, and she stayed under surveillance. Nine months later, she was asymptomatic.Aneurysms of branches of the internal mammary artery are rare and prone to rupture. Early diagnosis and treatment are imperative, and this case demonstrates that an endovascular approach is a safe treatment option.

Hereditary connective tissue disorders are a broad group of congenital disorders that are characterized by a pathological weakness of the connective tissue as a result of an incorrect genesis, leading to multisystem complaints. We describe a 14-year-old patient with the hereditary connective tissue disorder Loeys-Dietz syndrome who was admitted to a child psychiatric crisis unit because of depressive and anxiety symptoms. A systematic literature search was carried out to analyze the prevalence of depressive and anxiety symptoms in individuals with hereditary connective tissue disorders Loeys-Dietz syndrome, Ehlers-Danlos syndrome and Marfan syndrome, to identify a possible association between these disorders and explanations for this. We conclude that there is an increased incidence of depression and anxiety symptoms in which pain, fatigue, social support and functioning, quality of life and functional limitations seem to play a role. There is a need for further research to determine exactly which factors contribute and how these can be targeted in prevention and treatment.

This report describes a unique case of vascular Ehlers-Danlos syndrome (vEDS) characterized by multiple spontaneous direct carotid-cavernous sinus fistulas (CCF). The patient initially presented with ocular symptoms and was effectively treated with transarterial coil embolization. Five years later, the patient developed recurrent contralateral CCF that required complex endovascular techniques. Genetic testing identified a novel mutation in the COL3A1 gene, confirming the diagnosis of vEDS. This case report provides a near-term perspective on the identification of structural abnormalities in the COL3A1 protein to ensure the safety of endovascular therapy for patients with vEDS.

BACKGROUND: Primary spontaneous pneumothorax (PSP) is a manifestation of Vascular Ehlers-Danlos syndrome (vEDS) caused by heterozygous mutations in the COL3A1 gene. vEDS is a rare inherited disorder with an prevalence of one in 150,000. It can causes PSP and severe fragility of connective tissues with arterial but it remains poorly defined on clinical grounds and diagnose. Through this report, we hoped to help clinicians further understand the characteristics of vEDS.
METHODS: A 22-year-old man presented with recurrent pneumothorax, hemoptysis, and chest pain. Physical examination revealed remarkable hypermobility of the small joints and translucent skin with visible veins. Chest computed tomography (CT) showed pneumothorax and multiple pulmonary cavities.
RESULTS: Genomic deoxyribonucleic acid (DNA) was extracted from patients. Heterozygosity was observed in all 3 novel variants. The main variant is COL3A1, c.3256-43T > G(NM_000090.3), which represents a missense mutation in collagen type III alpha 1 that can lead to vEDS. The other 2 mutations were FLNB c.4814G > A(NM_001457.3) and TSC2 c.3145G > A (NM_000548.3). These variants were validated by Sanger sequencing of their parents. COL3A1was not detected in either of the parent strains. FLNB and TSC2 were detected in his mother.
METHODS: Vascular Ehlers-Danlos syndrome.
CONCLUSIONS: Both COL3A1 and TSC2 gene mutations can cause PSP; however, to the best of our knowledge, there are no reports on these 2 gene mutations in 1 patient at the same time.