(1) Background: Few data are available on the risk of airway dysfunction in protease inhibitor (PI*) M heterozygotes carrying rare null or deficient allelic variants of the gene SERPINA-1 (PI*MR). (2) Methods: In this observational study, in a cohort of PI*MR heterozygotes, we evaluated respiratory functional parameters at baseline and at one-year follow-up. Moreover, we compared such parameters with those of the PI*MZ and PI*MS patients. (3) Results: A total of 60 patients were recruited; 35 PI*MR, 11 PI*MZ and 14 PI*MS. At the annual follow-up, the PI*MR and PI*MZ patients demonstrated a significantly higher FEV₁ decline than the PI*MS group (p = 0.04 and p = 0.018, respectively). The PI*MR patients showed a significant increase in DLCO annual decline in comparison with the PI*MS group (p = 0.02). At baseline, the PI*MR smoking patients, compared with nonsmokers, showed statistically significant lower values of FEV₁, FEV₁/FVC and DLCO (p = 0.0004, p < 0.0001, p = 0.007, respectively) and, at the one-year follow-up, they displayed a significantly higher FEV₁ and DLCO decline (p = 0.0022, p = 0.011, respectively). PI*MR heterozygotes with COPD showed a significantly higher FEV₁, FEV₁/FVC and DLCO annual decline in comparison with healthy PI*MR (p = 0.0083, p = 0.043, p = 0.041). (4) Conclusions: These results suggest that PI*MR heterozygotes, particularly smokers with COPD, have a greater annual decline in respiratory functional parameters and need to be monitored.

Citation: Diplomatico M, Ametrano O, Errico ME, Mauro A, Rega R, Sottile R. Wong-type dermatomyositis: An extremely rare disease in childhood. Dermatol Pract Concept. 2019;9(4):325-326. DOI: https://doi.org/10.5826/dpc.0904a22 Accepted: July 3, 2019; Published: October 31, 2019 Copyright: ©2019 Diplomatico et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Funding: None. Competing interests: The authors have no conflicts of interest to disclose. Authorship: All authors have contributed significantly to this publication. Corresponding author: Mario Diplomatico, Department of Woman, Child and of General and Specialized Surgery, University of Campania, Via Luigi De Crecchio 2, 80138, Napoli, Italy. Email: mario.diplomatico@gmail.com Keywords : dermatomyositis, pediatric rheumatology, dermatology This work is licensed under a Creative Commons Attribution 4.0 International License.

Background/Objectives: Birt–Hogg–Dubé (BHD) syndrome is a rare autosomal dominant disorder caused by germline pathogenic variants in the folliculin (FLCN) gene. Although it carries a substantial lifetime risk of renal cell carcinoma, its earliest manifestations are typically pulmonary cysts and spontaneous pneumothorax, which are frequently misclassified as primary spontaneous pneumothorax, resulting in diagnostic delay and inadequate oncological surveillance. We aimed to characterise the real-world phenotypic spectrum of BHD encountered in a respiratory referral setting. Methods: We retrospectively describe seven consecutive patients with genetically confirmed BHD syndrome diagnosed at our tertiary referral centre between 2022 and 2024. Demographic data, smoking history, FLCN variants, pneumothorax episodes, high-resolution computed tomography (HRCT) findings, pulmonary function tests and extrapulmonary neoplasms were collected. Reporting followed the PROCESS 2020 guideline. Results: Mean age at genetic diagnosis was 53.1 years (range 41–64). All seven patients had multiple thin-walled pulmonary cysts on HRCT, with the typical basal, subpleural and paramediastinal distribution; three had a pneumothorax history. Despite largely preserved spirometry—mean forced expiratory volume in 1 s (FEV1) of 82.4% predicted—the diffusing capacity of the lung for carbon monoxide (DLCO) was reduced in five patients (mean of 67.4% predicted) and was the most frequently affected functional parameter, although the overall functional picture was heterogeneous. Five patients had solid neoplasms (one renal, one colorectal, one thyroid/parathyroid, one ovarian, one lung adenocarcinoma). Conclusions: In this referral-based case series, pulmonary cysts were a constant finding and DLCO was the most frequently reduced functional parameter, although the functional picture varied across patients. These descriptive observations are hypothesis-generating and require prospective, controlled validation—including comparison with other diffuse cystic lung diseases—before any diagnostic algorithm can be proposed.

Backgroud: Pathologies of the trachea and large bronchi are a heterogeneous group of rare structural disorders of the airway wall that are frequently underdiagnosed because their symptoms overlap with common respiratory diseases. Methods: We present three patients with chronic cough and dyspnea lasting approximately three years who had previously received multiple incorrect diagnoses, including COPD, asthma, gastroesophageal reflux, and acute bronchitis. Case Description: Following hospitalization for acute respiratory failure, comprehensive differential diagnostic workups revealed Mounier–Kuhn syndrome (tracheobronchomegaly) in Case 1, idiopathic tracheobronchomalacia in Case 2, and tracheobronchopathia osteochondroplastica in Case 3. Tracheobronchomegaly involves marked dilatation of the trachea and main bronchi; tracheobronchomalacia is characterized by expiratory airway collapse due to loss of cartilage stability; and tracheobronchopathia osteochondroplastica is a disease of unknown etiology featuring abnormal submucosal chondrification and ossification with luminal obstruction. All three impair mucociliary clearance and predispose to recurrent infections and progressive respiratory dysfunction. Conclusions: Through these cases we underscore the diagnostic challenges, characteristic radiological findings, and diverse management strategies of these conditions, emphasizing the critical need to consider tracheobronchial anomalies in patients with chronic respiratory symptoms and the key role of computed tomography in establishing an accurate diagnosis.