Publications by authors named "C Abasq-Thomas"
Article Synopsis
- The PIK3CA-related overgrowth spectrum (PROS) includes conditions caused by mosaic variants in the PIK3CA gene, which can also lead to various cancers, including an increased risk of Wilms tumor (WT).
- A study of 267 PROS patients found a low overall cancer development rate of 2.2%, with an estimated 5.6% probability of cancer by age 45, suggesting the risk of WT in these patients is relatively low.
- The findings indicate that routine abdominal ultrasound for cancer detection in PROS might not be necessary, and more long-term studies are needed to better understand the risks of different cancers and their connection to PIK3CA variants.
Background: Chromosome 15q24 microdeletion is a rare genetic disorder, and the skin manifestations are poorly documented.
Objectives: In this cross-sectional observational study using social media (Facebook), we investigated the prevalence of atopic dermatitis in 15q24 microdeletion syndrome.
Materials & Methods: Parents and caregivers of a child with the syndrome were asked to participate using a validated self-reporting questionnaire.