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Background: Asthma and chronic obstructive pulmonary disease (COPD) are common chronic airway diseases that may overlap in some individuals. Asthma COPD overlap (ACO) is a heterogeneous conditions that includes smoking-asthma (SA) and COPD with eosinophilia (COPDe). MicroRNAs (miRNA) are regulators of gene expression with a great potential as biomarkers., Objectives: The objective of this study was to identify distinctive miRNA signatures in patients from the whole spectrum of chronic obstructive bronchial disease (SA, COPDe, non-smoking asthmatics (NSA), and COPD) that could serve as diagnostic biomarkers or describe differential molecular mechanisms with potential therapeutic implications., Methods: From a previously characterized cohort of ACO, COPD and asthma patients, we selected a discovery group of 40 patients for miRNA expression profiling by means of microarray technology. Differential expression of miRNAs were validated by quantitative PCR in the complete cohort (n=274)., Results: Thirty differentially expressed miRNAs (eBAYES p<0.05, fold change ≥2) were found among the different groups of patients regarding COPDe: 19 COPD-vs-COPDe, 13 NSA-vs-COPDe, 11 SA-vs-COPDe. A characteristic down-regulated miRNA expression pattern was identified in COPDe patients. Differential expression of miR-619-5p and miR-4486 in COPDe patients were validated in the complete cohort (n=274)., Conclusions: We postulate that COPDe patients show a characteristic expression profile of miRNAs distinctive from asthma and COPD. Also that SA and COPDe patients, which have been typically clustered in the ACO group, display distinct molecular events., (Copyright © 2020. Publicado por Elsevier España, S.L.U.)

Incontinentia pigmenti is a rare, dominantly X-linked genodermatosis characterized by multisystemic involvement that is lethal prenatally in the majority of affected males and shows great clinical variability when it is expressed in women. Recently it has been shown that mutations of the gene NEMO/IKK-g located in Xq28 cause the expression of the disease, being only one mutation responsible for approximately 80 % of the cases. The diagnosis of incontinentia pigmenti is performed based on clinical features and family history with the support of histological findings. Nevertheless, as the gene responsible for the phenotype of the disease has been identified, a genetic study may be employed for doubtful cases. We report three cases of this entity (two women and one man) in different clinical stages of development that show the broad clinical spectrum we may encounter in the clinic.