Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features.

RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS-MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation-arteriovenous malformation type 1 (CM-AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients. We phenotypically delineated a large family of individuals with multifocal fast-flow capillary malformations, severe lymphatic anomalies of perinatal onset, and dysmorphic features not previously described. Sequencing studies were performed on probands and related family members, confirming the segregation of dysmorphic features in affected members of a novel heterozygous variant in RASA1 (NM_002890.3:c.2366G>A, p.(Arg789Gln)). In this work, we broaden the phenotypic spectrum of CM-AVM type 1 and propose a new RASA1 variant as likely pathogenic.

Effect of weekly vitamin D supplementation on the severity of atopic dermatitis and type 2 immunity biomarkers in children: A randomized controlled trial.

BACKGROUND: Vitamin D (VD) deficiency is common among patients with atopic dermatitis (AD) and often associated with severity. However, randomized trials of VD supplementation in AD have had equivocal results, and there is little information regarding the effect of VD supplementation on type 2 immunity in AD patients. OBJECTIVES: To investigate the efficacy of VD supplementation to decrease severity of AD and to alter type 2 immunity biomarkers. METHODS: We performed a randomized, double-blind, placebo-controlled trial. We randomly assigned 101 children with AD to weekly oral vitamin D3 (VD3) or placebo for 6 weeks. The primary outcome was the change in the Severity Scoring of AD (SCORAD). RESULTS: Mean age of subjects was 6.3 ± 4.0 years, and baseline SCORAD was 32 ± 29. At baseline, 57% of children were VD deficient, with no difference between groups. Change in 25(OH)D was significantly greater with VD3 than placebo (+43.4 ± 34.5 nmol/L vs. +2.3 ± 21.2 nmol/L, p < 0.001). SCORAD change at 6 weeks was not different between VD and placebo (-5.3 ± 11.6 vs. -5.5 ± 9.9, p = 0.91). There were no significant between-group differences in change of eosinophil counts, total IgE, Staphylococcal enterotoxin specific IgE, CCL17, CCL22, CCL27, LL-37 or Staphylococcus aureus lesional skin colonization. Vitamin D receptor (VDR) gene single nucleotide polymorphisms FokI, ApaI and TaqI did not modify subjects' response to VD supplementation. CONCLUSIONS: Among children with AD, weekly VD supplementation improved VD status but did not modify AD severity or type 2 immunity biomarkers compared to placebo (ClinicalTrials.gov NCT01996423).

Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb.

PIK3CA-related overgrowth spectrum (PROS) encompasses different clinical entities caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome represents a severe phenotype with poor survival rate. We present the case of a 4-month-old girl with CLOVES syndrome successfully treated with alpelisib, a PIKC3A inhibitor.

Skin sonography in children: a review.

Skin lesions are not uncommon in children, and most of them are benign. However, they can be a matter of concern. Although in most cases the diagnosis can be suspected based on clinical history and physical examination, in some cases clinical findings are nonspecific. High-frequency color Doppler US is a noninvasive technique that can play a relevant role in these cases and give important anatomical information for final clinical management. US can be helpful to avoid unnecessary surgery, plan a surgical excision and avoid advanced imaging studies such as MRI and CT, which have a lower resolution for the skin. Different lesions can look similar on US, and clinical correlation is always important. The purpose of this article is to show a variety of skin lesions that occur in children, emphasizing clinical-sonographic correlation, and to familiarize pediatric radiologists with the US technique and sonographic appearance of common skin lesions in children.

[Association between tattoos, piercings and risk behaviors in adolescents]. / Asociación entre tatuajes, perforaciones y conductas de riesgo en adolescentes.

BACKGROUND: The use of tattoos and piercings has increased, especially among adolescents in the last decades. AIM: To evaluate the prevalence of these behaviors in adolescents and their association with risk behaviors such as alcohol, tobacco and illicit drug use and sexual promiscuity. MATERIAL AND METHODS: An anonymous and confidential survey about tattooing and piercings was applied to randomly selected high school teenagers, attending municipal, private-subsidized and private schools, in four sectors of Santiago (north-east, south-east, north-west, south-west). RESULTS: The surveys were answered by 1329 participants with a mean age of 15 years (62% women) from 9 schools in Santiago. The prevalence of tattoos was 1.7% (confidence intervals (CI) 1.1% to 2.5%). The figure for piercings was 30.6% (CI 28.2 to 33.1%). A higher prevalence of tattooing and piercings was observed in groups with a history of psychiatric disorders, criminal records, alcohol, tobacco and illicit drug consumption and initiation of sexual activity (p < 0,001). CONCLUSIONS: This study confirms that tattoos and piercings are indicators of adolescent risk behaviors.

[Tattooing and piercing in teenagers]. / Tatuajes y perforaciones en adolescentes.

The presence of mutilations in the form of tattooing and body piercing is becoming increasingly common in adolescents, a practice that is not free of risk. Reported complications include local infections, bleeding, tearing, hypersensitivity reactions, transfusion-transmitted diseases (hepatitis B virus, hepatitis C virus, HIV, syphilis), Chagas' disease and infective endocarditis. On the other hand, several studies have demonstrated an association between body modifications and high-risk behavior in adolescents, as alcohol or drug abuse, cigarette smoking, violence and schooling problems. There is also an association with depression, suicide, eating disorders and other psychophysiologic disorders. This is a review of body modifications in adolescents, emphasizing in the risks, complications and motivations of this practice.

Síndromes mielodisplásticos en pediatría / Pediatric myelodysplastic syndromes

Los síndromes mielodisplásticos (SMD) son desórdenes clónales de las células madres hematopoyéticas caracterizados por hematopoyesis inefectiva, citopenia periférica y riesgo variable de transformación a leucemia mieloide aguda (LMA). Los SMD son relativamente raros en niños, representando aproximadamente el 3 por ciento de las neoplasias hematológicas pediátricas. Se han descrito numerosos subtipos de SMD en niños, no existiendo actualmente una clasificación de consenso. Existen desórdenes genéticos que predisponen al desarrollo de SMD en niños, como el síndrome de Down, la neurofibromatosis tipo I y síndrome de falla medular hereditarios; por otro lado, la exposición a agentes quimioterapéuticos y radiaciones ionizantes, aumenta el riesgo de desarrollar SMD tanto en niños como en adultos. Los SMD infantiles usualmente tienen un curso clínico agresivo y son de difícil manejo, siendo el trasplante de médula ósea alogénico el único tratamiento curativo conocido actualmente.