Background: Port wine stains (PWS) can be effectively treated with lasers. However, complete clearance is rarely observed, and data from long-term studies are limited. The study aimed to evaluate the efficacy and complications of long-term laser treatment in patients with PWS.
View Article and Find Full Text PDFEpidermolysis bullosa (EB) is a rare and genetically heterogeneous disorder characterized by skin fragility and blister formation occurring spontaneously or after minor trauma. EB is accompanied by congenital absence of skin (EB with CAS) in some patients. Pathogenic variants of are responsible for EB with CAS in the vast majority of cases.
View Article and Find Full Text PDFExpression-based systematic drug repositioning has been explored to predict novel treatments for a number of skin disorders. In this study, we utilize this approach to identify, to our knowledge, previously unreported therapies for epidermolysis bullosa simplex (EBS). RNA sequencing analysis was performed on skin biopsies of acute blisters (<1 week old) (n = 9) and nonblistered epidermis (n = 11) obtained from 11 patients with EBS.
View Article and Find Full Text PDFHepatic hemangioma (HH) is a common asymptomatic, self-limiting benign vascular tumor of the liver in neonates. Although complicated HHs are rare, they have significant risks of morbidity and mortality, especially during the perinatal period. Because of the high risks of complications from surgical interventions, there is an unmet need for effective medical therapy.
View Article and Find Full Text PDFMaffucci syndrome is a rare genetic disease due to somatic mutation of IDH1 gene. Currently there is no medical treatment available for spindle cell hemangioma associated with this disorder. Here we report successful management of these hemangiomas using sirolimus in combination with surgery.
View Article and Find Full Text PDFLymphatic malformation (LM) is a developmental anomaly of the lymphatic system that may lead to disfigurement, organ dysfunction and recurrent infection. Though several treatment modalities exist, pharmacotherapy is often associated with side effects and recurrence is common following surgical interventions. Moreover, despite the recent discovery of PIK3CA mutations in lymphatic endothelial cells of LM patients, the full spectrum of molecular pathways involved in LM pathogenesis is poorly understood.
View Article and Find Full Text PDFImportance:: Genetic testing results can provide guidance in developing personalized treatment plans for patients with vascular anomalies.
Objective:: To explore the efficacy of tramitinib in the treatment of an extracranial arteriovenous malformation with a somatic mutation.
Design:: Case report of a child with an arteriovenousu malformation that was successfully treated with trametinib after identification of a specific somatic mutation within the malformation.
Purpose Of Review: Childhood malnutrition is a major global health issue. It is often thought of as a developing world problem and therefore, underdiagnosed or misdiagnosed in developed countries. The delay in diagnosis and treatment can lead to increased morbidity and mortality.
View Article and Find Full Text PDFThe high prevalence of acne vulgaris in teenagers has increased comorbidities. Lasers offer alternative options for acne treatment because they have rapid action, low systemic adverse effects, and do not require everyday treatment. To study the efficacy and patients' satisfaction of 595-nm pulse dye laser (PDL) treatment of acne vulgaris and acne erythema in adolescents and early adulthood, we designed a blocked-randomized, split-faced 595-nm PDL (fluence 8 J/cm pulse duration 10 ms, spot size 7 mm, 2 session every 2 weeks) study in patients with mild to moderate acne by comparing the laser-treated and non-treated side.
View Article and Find Full Text PDFNail scabies is an interesting clinical presentation of scabies. Although it is usually found concomitant with characteristic dermatologic manifestations, it may present as an isolated finding in the immunocompromised host. This condition is commonly mistaken with other diseases such as nail dystrophy, nail psoriasis and onychomycosis.
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