Background: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209.
View Article and Find Full Text PDFMast cells (MCs) can release a variety of biologically active mediators under different circumstances, such as fever or vaccination. Our aim was to evaluate the incidence and severity of MC activation symptoms induced by SARS-CoV-2 virus (COVID-19) infection and vaccination in a cohort of 92 pediatric patients with cutaneous mastocytosis. Our findings support previous evidence on the safety of COVID-19 infection and vaccination in patients with MC disorders.
View Article and Find Full Text PDFClin Exp Dermatol
July 2023
Background: Guidelines and expert recommendations on infantile hemangiomas (IH) are aimed at increasing homogeneity in clinical decisions based on the risk of sequelae.
Objective: The objective was to analyze the inter- and intra-observer agreement among pediatric dermatologists in the choice of treatment for IH.
Methods: We performed a cross-sectional inter-rater and intra-rater agreement study within the Spanish infantile hemangioma registry.
Pediatr Dermatol
November 2019
Segmental infantile hemangiomas related to PHACE syndrome have recently been associated with enamel hypoplasia. We present two cases of solitary, localized upper lip infantile hemangioma with enamel hypoplasia of deciduous teeth.
View Article and Find Full Text PDFBackground: The superficial lymphatic component of vascular malformations poses a significant treatment challenge. It is responsible for the majority of symptoms presented, and to date, there is no consensus regarding treatment.
Objective: To evaluate the effectiveness of topical rapamycin in treating superficial lymphatic malformations (LM).
Acral persistent papular mucinosis (APPM) is a rare subtype of localized lichen myxedematosus. It consists of small papules localized exclusively on the back of the hands, wrists and extensor aspects of distal forearms with no other clinical or laboratory manifestations. The lesions tend to persist and may increase slowly in number.
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