Publications by authors named "T Hasbun"
Article Synopsis
- Giant congenital melanocytic nevi (GCMN) can be visually impactful and have the potential to develop into melanoma.
- Currently, there is no established drug treatment for GCMN.
- A case study describes an 8-year-old girl with kaposiform lymphangiomatosis linked to an NRAS mutation, whose GCMN showed improvement after treatment with oral selumetinib.
Article Synopsis
- Rare diseases impact millions worldwide, predominantly caused by genetic factors, and advancements in next-generation sequencing have significantly improved diagnosis in the last decade.
- Many countries still lack access to these diagnostic tools, creating healthcare disparities and prolonging the "diagnostic odyssey" for patients.
- The DECIPHERD program in Chile developed a hybrid approach to genomic diagnosis, successfully identifying pathogenic variants in a significant portion of patients, thereby illustrating a potential model for addressing similar challenges in other low-resource settings.
Unlabelled: Neonatal lupus erythematosus (NLE) is a very rare autoimmune disease, occurring in neonates born to mothers who present auto-antibodies to cytoplasmic antigens of Sjögren's syndrome. In most cases, the clinical course is benign toward spontaneous resolution, but there is a group of patients who develop severe involvement of the cardiac conduction system, therefore, early detection is critical.
Objective: To describe a clinical case of neonatal lupus erythematosus emphasizing the importance of timely diagnosis in the patient and the mother.
Combined vascular malformations are complex vascular anomalies that have high morbidity and therefore, therapeutic strategies are hard to establish. In this report, we aim to present two pediatric cases of ocular combined vascular malformations successfully treated with rapamycin.
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