Publications by authors named "E Baselga"
Background: Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G-protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.
Methods: This case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high-depth next generation sequencing.
Article Synopsis
- Biologics and small-molecule therapies have improved the treatment landscape for atopic dermatitis, but older systemic treatments are still in use.
- The PEDIatric STudy in Atopic Dermatitis is a 10-year observational study tracking the effectiveness and safety of dupilumab, cyclosporine, and methotrexate in children under 12 with moderate-to-severe atopic dermatitis, with interim results available after 2 years.
- Results show that dupilumab led to better improvements in skin severity, itching, and fewer discontinuations or adverse effects compared to methotrexate and cyclosporine.
Background: Moderate-to-severe atopic dermatitis (AD) can be difficult to manage in paediatric patients, and there are few licensed treatments available for this age group. Dupilumab is approved for the treatment of AD in children older than 6 months.
Objectives: To assess the effectiveness and safety of dupilumab in a real-world cohort of paediatric patients with AD in Spain.
Article Synopsis
- - Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant disorder caused by mutations in the OFD1 gene, resulting in various facial, oral, and digital abnormalities.
- - Skin symptoms occur in about 20%-30% of affected individuals and include evanescent milia (small cysts) and patchy hair loss (alopecia), which can mimic other conditions like tinea capitis.
- - Diagnosis can be confirmed through genetic testing, especially when clinicians suspect OFD1 due to specific trichoscopic findings, lack of response to antifungal treatments, and presence of midline anomalies.