Aplasia cutis congenita (ACC) is a rare connective tissue disorder that affects the epidermis, dermis, and subcutaneous tissue. Lesions can be small and benign or, in some cases, large and extensive. The lesions can be covered by a thin membrane, and depending on their location, they can make the underlying tissue vulnerable to damage or infection. This case report focuses on a term male infant born with extensive scalp defects and later diagnosed with ACC. The study will discuss the pathophysiology and classification of this disorder. This will provide clinicians with a recommended approach for the initial management of infants diagnosed with ACC in their practice.

There is mounting evidence to suggest that exogenous electromagnetic fields (EMF) may play a significant role in various biological processes that are crucial to therapeutic interventions. EMFs have been identified as a non-invasive, safe, and effective therapy that appears to have no apparent side effects. Numerous studies have demonstrated that pulsed EMFs (PEMFs) have the potential to become a stand-alone or adjunctive treatment modality for managing musculoskeletal disorders. However, several questions remain unresolved. Before their widespread clinical application, further research from well-designed, high-quality studies is required to standardize treatment parameters and determine the optimal protocol for healthcare decision-making. This article provides a comprehensive overview of the impact of musculoskeletal diseases on overall well-being, the limitations of conventional treatments, and the need to explore alternative therapeutic modalities such as electromagnetic field (EMF) therapy. EMF therapy uses low-frequency electromagnetic waves to stimulate tissue repair, reduce inflammation, and modulate pain signals, making it a safe and convenient alternative to conventional treatments. The article also discusses the historical perspective of EMF therapy in medicine. The article highlights the potential of EMF therapy as a personalized and comprehensive care option for musculoskeletal diseases, either alone or in conjunction with other therapies. It emphasizes the imperative for further research in this field and presents a compelling case for the use of EMF therapy in managing musculoskeletal diseases. Overall, the available findings on the underlying cellular and molecular biology support the use of EMF therapy as a viable option for the management of musculoskeletal disorders and stresses the need for continued research in this area.

We report a case of a 63-year-old woman diagnosed with vascular Ehlers-Danlos syndrome (vEDS) who survived two prophylactic surgeries for the dilatation of a thoracoabdominal aortic aneurysm. She initially developed acute type B aortic dissection at the age of 44 years. Five years later, her dissected descending aorta was enlarged to 54 mm; thus, the descending aorta was replaced as the first surgery. Fortunately, the intra- and post-operative courses were uneventful. Fourteen years post her first surgery, the dissected thoracoabdominal aorta distal to the graft expanded to 53 mm; however, no anastomotic leakage was observed. Genetic testing revealed a COL3A1 abnormality, confirming the diagnosis of vEDS. Thoracoabdominal aorta replacement using deep hypothermia circulatory arrest was performed because of the high risk of aortic aneurysm rupture. The second surgery was performed without complications, and no complications were observed 13 months post-surgery. The major reason for a successful surgery in this patient was the relatively low vascular fragility associated with vEDS. This case demonstrates that there may be considerable individual differences in vascular fragility in patients with vEDS. Thus, surgical repair, along with endovascular therapy, might still be a beneficial option for patients with vEDS having large aortic aneurysms and a high risk of rupture.
UNASSIGNED: Prophylactic surgery for vascular lesions in Ehlers-Danlos syndrome (vEDS) is generally not recommended because of its high vascular fragility. However, if a patient with vEDS has an aortic aneurysm that is at a very high risk of rupture, aggressive treatment is a plausible option as there may be considerable individual differences in vascular fragility among patients with vEDS.

Background Connective tissue disorders encompass a diverse array of autoimmune and hereditary conditions, including systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and antiphospholipid antibody syndrome. These disorders present unique challenges during pregnancy due to their complex pathophysiology and potential complications. Understanding their impact on pregnancy outcomes is vital for optimizing maternal and fetal health. Objective To investigate the burden, complications, maternal and fetal outcomes, and prognosis of connective tissue disorders in pregnancy. Methods The study was conducted over one year and six months at Saveetha Medical College and Hospital, Chennai, India, involving 45 pregnant women diagnosed with connective tissue disorders. Standard antenatal investigations were conducted, and participants were monitored throughout the antenatal period. Maternal and fetal outcomes were meticulously evaluated. Results Baseline characteristics revealed a heterogeneous distribution of age and parity among participants, reflecting the diverse nature of connective tissue disorders in pregnancy. Maternal medical outcomes, such as gestational hypertension (GHTN) and gestational diabetes mellitus (GDM), were prevalent, highlighting the necessity of close monitoring. Obstetric outcomes included spontaneous abortion and preterm delivery, indicating elevated risks in this population. Fetal outcomes, including fetal growth restriction and admission to the neonatal intensive care unit, underscored the impact of these disorders on fetal health. Conclusion This study examines pregnant connective tissue disorder burden, complications, maternal and fetal outcomes, and prognosis. The complicated relationship between these illnesses, and pregnancy requires specialist care and close monitoring. The participants\' baseline features represent connective tissue condition heterogeneity, affecting clinical practice. Among the study subjects, 40% had RA and 20% had SLE, the most common connective tissue illness. Adverse maternal medical outcomes, like GHTN (27.27% of antiphospholipid syndrome (APS) patients and 22.22% of SLE patients) and GDM (18.18% of APS patients and 11.11% of SLE patients), highlight the need for close maternal health monitoring and management during pregnancy. Overall, this study sheds light on connective tissue abnormalities and pregnancy outcomes. Healthcare providers can improve reproductive health and well-being for various illnesses by knowing these relationships.

A 16-year-old girl with Loeys-Dietz syndrome presented with an acute, complicated type B aortic dissection (AD) with mesenteric and right renal malperfusion owing to a dynamic obstruction. The anatomy of her AD and her genetic aortography were suboptimal for thoracic endovascular aortic repair. Given the concern for anticipated late aortic degeneration and the need for open aortic repair, she underwent successful transfemoral endovascular septal fenestration with stenting of the fenestration into the superior mesenteric artery and additional stenting of the right renal artery. Her renal failure and mesenteric angina resolved, and she was discharged home. Endovascular fenestration provides an elegant solution for AD-associated dynamic malperfusion of aortic branch vessels without compromising future open aortic repairs.

BACKGROUND: Marfan Syndrome is an autosomal dominant disease caused by pathogenetic variants in the FBN1 gene. The progressive dilatation of the aorta and the potential risk of acute aortic syndromes influence the prognosis of these patients. We aim to describe population characteristics, long-term survival, and re-intervention patterns in patients who underwent aortic surgery with a previously confirmed clinical diagnosis of Marfan Syndrome in a middle-income country.
METHODS: A retrospective single-center case series study was conducted. All Marfan Syndrome patients who underwent aortic procedures from 2004 until 2021 were included. Qualitative variables were frequency-presented, while quantitative ones adopted mean ± standard deviation. A subgroup analysis between elective and emergent procedures was conducted. Kaplan-Meier plots depicted cumulative survival and re-intervention-free. Control appointments and government data tracked out-of-hospital mortality.
RESULTS: Fifty patients were identified. The mean age was 38.79 ± 14.41 years, with a male-to-female ratio of 2:1. Common comorbidities included aortic valve regurgitation (66%) and hypertension (50%). Aortic aneurysms were observed in 64% without dissection and 36% with dissection. Surgical procedures comprised elective (52%) and emergent cases (48%). The most common surgery performed was the David procedure (64%), and the Bentall procedure (14%). The in-hospital mortality rate was 4%. Complications included stroke (10%), and acute kidney injury (6%). The average follow-up was 8.88 ± 5.78 years. Survival rates at 5, 10, and 15 years were 89%, 73%, and 68%, respectively. Reintervention rates at 1, 2.5, and 5 years were 10%, 14%, and 17%, respectively. The emergent subgroup was younger (37.58 ± 14.49 years), had the largest number of Stanford A aortic dissections, presented hemodynamic instability (41.67%), and had a higher requirement of reinterventions in the first 5 years of follow-up (p = 0.030).
CONCLUSIONS: In our study, surveillance programs played a pivotal role in sustaining high survival rates and identifying re-intervention requirements. However, challenges persist, as 48% of the patients required emergent surgery. Despite not affecting survival rates, a greater requirement for reinterventions was observed, emphasizing the necessity of timely diagnosis. Enhanced educational initiatives for healthcare providers and increased patient involvement in follow-up programs are imperative to address these concerns.

Patients with Ehlers-Danlos syndrome (EDS) frequently report symptoms such as chronic pain and muscular fatigue that can heavily impact their quality of life. The treatment for many of the physical symptoms of EDS is focused on supportive care, which may include physical therapy and exercise programs. However, many patients will experience difficulty in deriving benefits from these activities due to significant pain and fatigue from physical activity. We report a case of a 39-year-old female with a history of EDS whose physical capabilities were severely impacted by their chronic pain and fatigue symptoms. After little progress was made with their current treatment plan of analgesics, manual therapy, exercise, and physical therapy, the patient was supplemented with creatine monohydrate due to its studied benefits in muscular strength and endurance for athletes. Following supplementation, the patient reported significant benefits in their muscular fatigue symptoms, allowing them to engage in daily activities and exercises more effectively. This case demonstrates a potential addition to the treatment of EDS that can improve a patient\'s quality of life.

Scleroderma is an autoimmune disease that affects connective tissue. Keratoconus (KC) is a rare ocular condition that may appear alongside scleroderma. Contact lenses are an essential visual aid for KC patients, especially in advanced cases. However, scleroderma patients may face difficulties using them due to finger-related disabilities. Corneal collagen cross-linking (CXL) is a crucial treatment used to prevent corneal thinning and visual deterioration in progressive KC. However, the potential trigger of corneal melt and delayed healing following CXL in KC patients with scleroderma is a matter of concern. We present a case of a patient with KC and scleroderma who underwent CXL without any complications.

Germline SMAD4 pathogenic variants (PVs) cause juvenile polyposis syndrome (JPS), which is known for an increased risk of gastrointestinal juvenile polyps and gastrointestinal cancer. Many patients with SMAD4 PV also show signs of hereditary hemorrhagic telangiectasia (HHT) and some patients have aneurysms and dissections of the thoracic aorta. Here we describe two patients with a germline SMAD4 PV and a remarkable clinical presentation including multiple medium-sized arterial aneurysms. More data are needed to confirm whether the more extensive vascular phenotype and the other described features in our patients are indeed part of a broader JPS spectrum.

This is a case of a 46-year-old woman who presented with right common iliac artery dissection preceded by a left common iliac artery dissection and rupture 6 years earlier. Both iliac arteries required repair. Based on her presentation, she met the clinical diagnostic criteria for vascular Ehlers-Danlos syndrome; however, the genetic workup demonstrated that she had classic Ehlers-Danlos syndrome due to a null variant in COL5A1, which is rarely associated with arteriopathy.