Background: In pediatric age, the central airways are more flexible and mobile, with tracheal and bronchial walls easily tending to collapse, allowing partial or complete occlusion of the lumen: a situation described as tracheobronchomalacia (TBM). This is a condition that causes an increase in intrathoracic pressure that may accentuate airway collapse, and a biphasic or barking cough appears. Objectives: Although TBM is relatively frequent in pediatric age, the diagnostic criteria and subsequent treatment do not follow well-standardized criteria and often vary from pediatric center to center. Therefore, there is a need to standardize diagnostic procedures and the resulting medical or surgical treatments. Methods: We therefore organized a day of meetings to talk about TBM, inviting all Italian pediatricians and pediatric surgeons who diagnose and treat patients with this pathology on a daily basis. Results: This work, collecting all the meeting interventions, is a compendium that deals with all aspects of TBM, emphasizing the most correct criteria to diagnose and therefore best treat each pediatric patient with this clinical condition. We give particular emphasis to the need to perform static and dynamic videobronchoscopy (S/DVBS) to verify the patency of the tracheal lumen, so as to evaluate the severity of TBM. Conclusions: this work deals with TBM in all its diagnostic and treatment aspects and can be a valid help for all pediatricians who treat these patients.

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu–Osler–Weber syndrome, is a disorder of angiogenesis characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations. This rare autosomal dominant disorder is caused by pathogenic variants in the ENG and ACVRL1 genes, and only 1–3% of case variants occur in SMAD4. HHT clinical manifestations include telangiectasias, epistaxis, and arteriovenous malformations in multiple organ systems. Clinical diagnosis is based on Curaçao Criteria. Here, we describe a pauci-symptomatic 10-year-old girl with an orbital and sinus infectious disease. Her clinical history was unremarkable, except for sporadic, self-limiting epistaxis episodes. She showed finger clubbing and low oxygen saturation levels on pulse oximetry, suggesting a chronic lung disease, and a large lung arteriovenous malformation. She also developed acute neurological symptoms, with evidence of multiple cerebral abscess lesions on MRI. HHT was therefore suspected and confirmed by genetic analysis, which revealed a de novo pathogenic variant in the ENG gene [c.1183G>T p.(Glu395Ter)] found in only 15% of the reads from NGS analysis, performed on peripheral blood lymphocytes, indicating a possible mutational mosaicism. This case outlines that HHT could present with unusual clinical symptoms highlighting the importance of diagnosis using both clinical criteria and genetic test.

Background: In pediatric age, the central airways are more flexible and mobile, with tracheal and bronchial walls easly tending to collapse, allowing partial or complete occlusion of the lumen: a situation described as tracheobronchomalacia (TBM). Any condition that causes an increase in intrathoracic pressure are situations in which airway collapse is accentuated and biphasic or barking cough appears. Objectives: Although the situation of TBM is relatively frequent in pediatric age, the diagnostic criteria and subsequent treatment do not follow well-standardized criteria, and often vary from pediatric center to center. Therefore, there is a real need to standardize diagnostic procedures and the resulting medical or surgical treatments. Methods: We therefore organized a day of meeting to talk about TBM, inviting from all Italy pediatricians and pediatric surgeons that diagnose and treat patients with this pathology on daily basis. Results: This work, collecting all the meeting interventions, is a compendium that truly deals with TBM in all its aspects, emphasizing above all the most correct criteria to diagnose and therefore best treat each individual pediatric patient with such clinical condition. We give particular emphasis to the need to perform static and dynamic videobronchoscopy (S/DVBS) to verify the patency of the tracheal lumen, so as to evaluate the severity of TBM, when the patient increases intrathoracic pressure. Conclusion: this work deals with TBM in all its diagnostic and treatment aspects and can be a valid help for all pediatricians who treat this pathology.

Background: Interstitial lung diseases (ILDs) are a heterogeneous group of disorders characterized by variable degrees of inflammation and fibrosis affecting the pulmonary interstitium. Advances in molecular biology and genetics have greatly expanded our understanding of ILD pathogenesis, revealing novel mechanisms and supporting the development of precision medicine approaches. Genetic insights: Genetic factors play a pivotal role in ILD heterogeneity, influencing disease onset, severity, and progression. To date, more than 30 genes with different inheritance patterns (autosomal dominant, recessive, or X-linked) have been associated to ILDs. These genes are primarily involved in surfactant metabolism, telomere mainte-nance, immune regulation, and epithelial repair. Recent evidence also implicates genes encoding aminoacyl-tRNA synthetases. This review summarises the main genetic al-terations underlying ILD pathogenesis and discusses their impact on diagnostic and therapeutic approaches, highlighting how identification of disease-causing variants can improve diagnostic accuracy, refine prognostic assessment, and inform recurrence risk. Methods: A narrative review was conducted through targeted PubMed and Embase searches using disease- and gene-related keywords. Eligible publications included narrative and systematic reviews, meta-analyses, case series, prospective studies, society guidelines, and peer-reviewed editorials. Conclusions: This synthesis brings together the latest genetic insights into pediatric ILDs and their clinical implications. Integrating genomic data into clinical practice may enable earlier diagnosis, tailored follow-up, individualized therapeutic strategies, and more informed genetic counseling. Collectively, these advances hold promise for better out-comes in children affected by ILDs.