International Journal of Dermatology最新文献

Background: Capillary malformation-arteriovenous malformation (CM-AVM) is a rare genetic disorder characterized by multiple small capillary malformations (CMs) and arteriovenous malformations (AVMs), which has been linked with pathogenic variants in RASA1 and EPHB4. However, more data are needed to explore the phenotypic characteristics and the association between genotypes and clinical phenotypes.

Objectives: Our aim was to investigate the phenotypic and genetic characteristics of CM-AVM in East Asians, identify potential unique phenotypes, and conduct genotype-phenotype association analyses.

Methods: This is a single-center study prospectively collecting CM-AVM patients' clinical data, with genetic data from blood or tissue samples.

Results: A total of 59 patients were enrolled. Thirty-two individuals had a leading CM greater than Schobinger stage II. The trigeminal nerve branches and greater auricular, transverse cervical, and lesser occipital nerves' somatosensory innervation zones divided head and neck CMs into six zones: V1, V2, V3, GA, TC, and LO zones. GA, TC, and LO zones had a positive correlation with one another but a negative correlation with V2 zone involvement. The RASA1 and EPHB4 pathogenic variants were detected in 41 out of 59, which showed two types of variant allele frequency (VAF) distributions. VAF above 30% made RASA1 pathogenic variants more susceptible to multifocal CMs than those below 30%.

Conclusions: Leading CMs in the head and neck exhibit two segmentation patterns, anterior and lateral, which may differ in ear involvement and progression. Germline RASA1 pathogenic variants increased multifocal CM risk more than the somatic variants.

Mohs micrographic surgery (MMS) is the gold standard for removing basal cell carcinomas (BCCs) due to its ability to guarantee 100% margin evaluation through frozen section histopathology, offering the highest cure rate among current treatments. However, noninvasive imaging technologies have emerged as promising alternatives to clinical assessment for defining presurgical margins. This systematic scoping review examines the efficacy of these imaging modalities, focusing on those approved for clinical use by the United States Food and Drug Administration (FDA) or the European Medicines Agency (EMA). A systematic search of EMBASE, Scopus, PubMed, and the Cochrane Public Library databases identified 11 relevant studies out of 2123 records, encompassing 644 lesions across five imaging techniques. The findings suggest that dermoscopy, high-frequency ultrasound (HFUS), optical coherence tomography (OCT), line-field optical coherence tomography (LC-OCT), and reflectance confocal microscopy (RCM) show potential in detecting BCC margins, which could enhance MMS by providing better preoperative planning, informing patients of expected defect size, aiding in reconstruction decisions, and reducing overall procedure costs. This review discusses the benefits and limitations of each technique, offering insights into how these innovations could influence the future of BCC management. Emerging imaging techniques could enhance MMS by improving BCC margin assessment and reducing costs. Their adoption will depend on price and ease of use.

Atopic dermatitis (AD) and prurigo nodularis (PN) are chronic dermatological conditions marked by severe itching and the presence of eczematous lesions such as papules and nodules. Both diseases can pose significant physical and psychological harm, leading to poor quality of life. Notably, AD and PN were clinically linked in the past, with suggestions by researchers that PN might be a distinct clinical phenotype of AD. However, the extent of their relationship had not been fully quantified until our recent investigations. Through a meticulous systematic review and meta-analysis adhering to the PRISMA guidelines, we extensively searched databases, including PubMed, EMBASE, Scopus, and the Cochrane Library, up to February 18, 2024. Our random effects meta-analysis presented a strikingly increased risk of AD in patients suffering from PN as opposed to control groups (pooled unadjusted odds ratio [OR], 16.85; 95% confidence interval [CI], 6.13-46.31; I² = 100%). Correspondingly, an elevated prevalence of PN was identified in subjects with AD (2.00%; 95% CI, 1.62-2.37%). These findings underscore the close association between AD and PN, suggesting a multifaceted overlap and potential bi-directionality in developing these skin conditions. However, further comprehensive studies are essential to validate these associations and understand their precise clinical implications, with the ultimate goal of refining patient management strategies.