Eosinophilic fasciitis (EF), defined as diffuse fasciitis with eosinophilia by Shulman in 1974, is a disease with unknown etiology and whose pathogenesis is still being researched. The diagnosis is based on the clinical aspects (skin induration with an “orange peel” appearance), the lab results (eosinophilia, increased inflammatory markers), the skin biopsy with the pathognomonic histopathological result, as well as the typical MRI changes. The treatment includes glucocorticoids and immunosuppressive drugs. Due to severe refractory cases, the treatment remains a challenge. EF is still a disease with potential for further research.

This report presents the case of a female patient diagnosed with Takayasu arteritis from childhood, with severe, refractory coronary involvement, leading to two acute coronary syndromes and multiple anginous episodes. Consequently, the patient suffered aorto-bicarotid bypass two times, multiple interventional procedures with stent implantation, balloon angioplasty, and up to ten repeated in-stent restenosis that required reinterventions, despite being on maximal immunosuppressive treatment. In recent years, various studies have been reported that aim to best characterize this particular type of vascular damage and to indicate optimal therapeutic options for treatment. The latter should be based on the activity of the underlying disease; however, no reliable markers are available in TA. The management of TA patients with coronary involvement continues to be a challenge and requires both drug and interventional techniques to avoid life-threatening events.

Hemochromatosis is a genetic disorder characterized by increased iron storage in various organs with progressive multisystemic damage. Despite the reports dating back to 1865, the diagnosis of hemochromatosis poses a challenge to clinicians due to its non-specific symptoms and indolent course causing significant delay in disease recognition. The key organ that is affected by iron overload is the liver, suffering from fibrosis, cirrhosis or hepatocellular carcinoma, complications that can be prevented via early diagnosis and treatment. This review aims to draw attention to the pitfalls in diagnosing hemochromatosis. We present a case with multiorgan complaints, abnormal iron markers and a consistent genetic result. We then examine the relevant literature and discuss hemochromatosis subtypes and liver involvement, including transplant outcome and treatment options. In summary, hemochromatosis remains difficult to diagnose due to its symptom heterogeneity and rarity; thus, further education for practitioners of all disciplines is useful in facilitating its early recognition and management.

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disorder characterized by complex interactions between the innate and adaptive immune systems, being potentially associated with an enhanced intestinal permeability. Zonulin represents a key protein in the modulation of intestinal permeability, being a gut leakage marker. The purpose of the present work was to evaluate the intestinal permeability, through serum zonulin levels, and to explore the relationships between zonulin, disease activity, and organ involvement in Caucasian SLE patients. The study had a cross-sectional design and included two groups of subjects: the SLE group (n = 41) and the control group (n = 29). Plasma zonulin level was measured using indirect ELISA. Despite the fact that Caucasian SLE patients exhibited higher plasma zonulin levels compared to the control group (7.566 ± 1.368 ng/mL vs. 2.306 ± 0.286 ng/mL, p < 0.01, Mann–Whitney-U-test), plasma zonulin levels did not correlate with disease activity measured by the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI). SLE patients with clinical articular involvement had paradoxically lower plasma zonulin levels than those without this manifestation. The results support the hypothesis of a mutually exclusive inflammatory “signature” between intestinal mucosa and synovium.

In this study, we present the case of an 11-year-old child with cachexia, severe dextroscoliosis, pectus carinatum, secondary restrictive pulmonary disease, and an incidental finding of a large ostium secundum atrial septal defect (ASD) that was identified on preoperative assessment for surgical correction of the spinal deformity. Transthoracic and transesophageal echocardiography confirmed significant left‑to‑right shunting with a pulmonary blood flow to systemic blood flow ratio (Qp/Qs) of 3.18 through a 14 mm defect with good circumferential rims, larger than 5 mm. Despite significant left‑to‑right shunting, the defect was found prior to the development of pulmonary hypertension or right heart enlargement. The decision to close the atrial septal defect by percutaneous intervention was preferred over surgical closure, due to the restrictive pulmonary physiology and low body mass index (12.6 kg/m2). Percutaneous closure of the ASD was successfully performed under general anesthesia using an Occlutech Figulla Flex II ASD device, with no residual shunt. Surgical correction of the dextroscoliosis was subsequently performed with good results. A comprehensive clinical and echocardiographic evaluation is needed in patients with skeletal abnormalities in order to rule out associated congenital heart defects, which may impose therapeutic challenges.

Paget's disease of bone (PDB) is characterized by abnormal osteoclastic bone resorption with disorganized bone neo‑formation, primarily affecting elderly (>55 years) patients. Although the majority of patients are asymptomatic, some patients may experience bone pain due to local periosteal involvement or osteoarthritic lesions in the spine; in addition, limb deformities may lead to secondary gait problems or degenerative joint changes. Anemia has an overall prevalence of 12‑17% in elderly adults (>65 years old), with macrocytic anemia being the less common type. Megaloblastic anemia is a macrocytic anemia characterized by the presence of large, immature, nucleated cells (megaloblasts) in the blood, with the most common cause being a deficiency of folate and/or vitamin B12. We herein report the rare case of a 72‑year‑old male patient exhibiting both these conditions, with the aim of discussing the possible association between the two and, most importantly, the clinical management of the patient in a real‑life setting over a period of 10 years. The patient was diagnosed based on clinical symptoms (bone pain), radiological imaging and specific laboratory tests, and received discontinuous courses of bisphosphonates and cyanocobalamin supplementation therapy, based mainly on aggravated symptomatology. A systematic literature review was also performed and revealed not only the scarcity of reports on similar cases, but also the mechanisms that may underlie the possible association of PDB with macrocytic anemia due to vitamin B12 deficiency in elderly patients.