We used a topical formulation of sirolimus for treating port wine stain (PWS). Although pulsed dye laser (PDL) is the current treatment of choice for PWS, fast neovascularization after treatment is a major drawback. With PDL therapy there has been insufficient improvement and frustrating side effects. The objective was to study the efficacy and safety of combining topical sirolimus with PDL as dual therapy in managing PWS. We report five PWS cases that were treated with PDL initially, followed by 0.5–1% topical sirolimus. With dual therapy there was significant improvement over a shorter duration. More published studies of topical sirolimus are needed to clarify the role of dual therapy in managing PWS associated with capillary malformations. We encourage further prospective and comparative studies with a larger sample size.
CLOVES syndrome is a recently described overgrowth syndrome. Clinically, it is characterized by congenital lipomatous overgrowth (CLO), vascular anomalies (V), epidermal nevi (E), and skeletal deformities (S). Genetically, it is characterized by a somatic gain-of-function mutation of the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene. This somatic mutation is, in turn, associated with the activation of the protein kinase Bmammalian target of the rapamycin (AKT-mTOR) pathway that drives various signaling cascades. The end result is eventually promoting cell proliferation, growth, and survival. CLOVES syndrome is exceedingly uncommon, with less than 200 cases currently documented. Herein, we describe a case of CLOVES syndrome in a nine-month-old male infant who was referred to our dermatology clinic for further assessment and management. The diagnosis was made based on clinical findings and confirmed by genetic testing.
Background: Lymphatic malformations (LMs) are rare benign tumors that are at risk of various complications due to their progressive nature and critical locations. Considering the morbidity and mortality of such lesions, different therapeutic methods proposed are surgical excision, sclerotherapy, laser, aspiration, radiotherapy, and most recently sirolimus. Case Reports: We reviewed 3 cases with lymphatic malformation at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Initially placed on various treatment sessions of surgical intervention, sclerotherapy or even both prior to sirolimus, minimal improvement was noted. Sirolimus initiation was associated with significant clinical improvement. However, sirolimus was associated with neutropenia, which was successfully managed by G-CSF. Conclusion: Sirolimus can cause bone marrow suppression due to cumulative effect.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.