A5054304270- Vascular Malformations and Hemangiomas
- Tumors and Oncological Cases
- Parvovirus B19 Infection Studies
- Nail Diseases and Treatments
- Sexuality, Behavior, and Technology
- Skin and Cellular Biology Research
- Tattoo and Body Piercing Complications
- Dermatology and Skin Diseases
- Infectious Diseases and Tuberculosis
- Cerebrovascular and genetic disorders
- Liver Disease Diagnosis and Treatment
- Biomedical and Chemical Research
- Dermatological and COVID-19 studies
- Exercise and Physiological Responses
- Sarcoma Diagnosis and Treatment
- Asthma and respiratory diseases
- Wnt/β-catenin signaling in development and cancer
- Vascular Anomalies and Treatments
- Vascular anomalies and interventions
- Neurology and Historical Studies
- Vascular Tumors and Angiosarcomas
- Body Image and Dysmorphia Studies
- Blood disorders and treatments
- Eosinophilic Disorders and Syndromes
- Cardiovascular Syncope and Autonomic Disorders
Pontificia Universidad Católica de Chile
2006-2025
Complejo Asistencial Sótero del Río
2024
Centre Hospitalier Universitaire Sainte-Justine
2018-2020
Université de Montréal
2019-2020
Vitamin D (VD) deficiency is common among patients with atopic dermatitis (AD) and often associated severity. However, randomized trials of VD supplementation in AD have had equivocal results, there little information regarding the effect on type 2 immunity patients.
Epidermal differentiation disorders (EDDs, a.k.a. ichthyosis and palmoplantar keratoderma) are severe heritable skin conditions characterized by localized or generalized scaling erythema. To identify novel genetic variants causing keratoderma (PPK) progressive symmetric erythrokeratoderma (PSEK) phenotypes. We performed whole exome sequencing in a large EDD cohort including PPK PSEK phenotypes to variants. investigated the variant consequence using silico predictions, assays patient...
ABSTRACT Itch and pain are both mediated by small sensory fibres. Atopic dermatitis (AD) patients usually report stress‐induced flares, but the impact of stress on fibres in lesional non‐lesional skin remains inconclusive. This observational study assessed effect acute profiles subjects with AD ( n = 18) healthy controls (HC, 21). Participants completed clinical psychological questionnaires, quantitative testing was performed HC. Assessments were done before after Montreal Imaging Stress...
Abstract Background Non‐involuting congenital hemangiomas ( NICH ) are fully formed vascular tumors at birth, with a distinctive clinical, radiologic, and histopathological profile, classically lack expansion or involution over time. We describe series of cases atypical postnatal growth. Methods The authors retrospectively analyzed all diagnosed from 2007 to 2017. reviewed charts photographic databases our Vascular Anomalies Clinic. included in the study an Clinical data, imaging,...
Abstract Background Awareness of PHACE syndrome has increased; however, little information exists regarding its natural history, especially in patients over the age 18. We aim to describe history enhance clinical management and counseling patients. Methods A cohort ≥ 18 years was identified through Syndrome Registry a Vascular Anomalies Clinic Database. cross‐sectional survey designed after review literature by experts (IF, JP, DS). Questions were selected consensus, conducted using...
Tumor necrosis factor (TNF) alpha inhibitors (anti-TNF) are effective in the treatment of inflammatory bowel disease (IBD) as well psoriasis. Their increasing use has raised identification cutaneous side effects (CSEs). Evidence children is limited. The objective this study to describe CSEs anti-TNF a pediatric population with IBD. This retrospective single-center IBD under between 2013 and 2016. A total 40 patients related were referred our dermatology clinic. control group was randomly...
Asociación entre tatuajes, perforaciones y conductas
Abstract Background/Objectives The COVID‐19 pandemic prompted a rapid expansion in the use of telemedicine. This study aimed to assess experiences hemangioma specialists utilizing telemedicine during evaluate and manage infantile hemangiomas (IH), including perceived effectiveness different modalities barriers care delivery. Methods Multicenter cross‐sectional asking providers describe their using for initial evaluation IH from March September 2020. Results included 281 patients 15 medical...
Congenital hemangiomas are benign vascular tumors, categorized by their postnatal behavior as rapidly involuting, non-involuting, or partially involuting. They typically solitary, with a predilection for the head limbs near joint. We present two infants small, multifocal congenital nonprogressive of skin, one associated hepatic and intracranial lesions, another an in utero hemorrhage hydrocephalus. These cases further extend differential diagnosis lesions "hemangiomatosis."
Sport dermatosesSports practice has become a part of modern life.As result, the association dermatoses with sports increases continuously.Proper diagnosis and treatment these skin lesions requires familiarity their characteristics clinical presentations.This article reviews cutaneous manifestations traumatic environmental injuries, infections, exacerbation preexisting (Rev Méd Chile
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 4-month-old girl successfully treated alpelisib, PIKC3A inhibitor.
Abstract RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS‐MAPK pathway. RASA1 mutations are cause 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 large family individuals with multifocal fast‐flow malformations, severe lymphatic anomalies perinatal onset, and dysmorphic...