Capillary malformation-arteriovenous malformation (CM-AVM) is a genetic condition predominantly attributed to variations in the RASA1 or EPHB4 genes. We identified three genetic variations: a variation in the RASA1 (c.2603+1G>A) and two novel variations in the EPHB4 (c.
View Article and Find Full Text PDFTelangiectasias are the most frequent type of sequelae of infantile hemangiomas after involution. Few studies have reported the treatment of telangiectasias with 595-nm pulsed dye lasers. Therefore, the objective of this study was to assess the efficacy and safety of a 595-nm pulsed dye laser for treating residual telangiectasias following hemangioma involution.
View Article and Find Full Text PDFBackground: Pyogenic granuloma (PG) is a common vascular neoplasm in children. Data on 595 nm pulsed dye lasers for the treatment of PG in children remain scarce.
Objective: To summarize the clinical characteristics and to evaluate the effectiveness and safety of the 595 nm pulsed dye laser for the treatment of PG in children.
Background: Spider nevi (SN) are quite common in children. SN are treated via different techniques, and complete removal often requires multiple treatments. However, few studies have evaluated the treatment of SN.
View Article and Find Full Text PDFNeurofibromatosis type 1 (NF1) is a common autosomal dominant tumor-predisposition disorder that mainly impacts the nervous system and skin. Since the full clinical presentation of NF1 depends on age, it can be difficult to make an early and definite diagnosis in paediatric patients without family history who only exhibited multiple cafè-au-lait spots, highlighting the need for mutational analysis. A combination of techniques was conducted in 30 families with NF1, including multi-gene panels, direct sequencing, cDNA sequencing and multiplex ligation-dependent probe amplification.
View Article and Find Full Text PDF