Our data demonstrate the value of ultradeep NGS for molecular diagnosis of PROS, highlight its substantial allelic heterogeneity, and confirm that optimal diagnosis requires fresh skin or surgical samples from affected regions. Our findings may be of value in guiding future recommendations for genetic testing in PROS and other mosaic conditions.Genet Med advance online publication 02 February 2017.
WHAT'S KNOWN ON THIS SUBJECT:Scabies is a frequent cause of consultation and has recently been classified as a neglected disease. The clinical presentation seems to be linked with age, although no specific study has aimed to delineate the clinical spectrum of scabies in infants and children.WHAT THIS STUDY ADDS: Scabies in infants and children has distinct clinical features. This prospective observational study found that infants were more likely to have relapse, nodules, and to present involvement with extremities, face, and scalp, arguing for specific cares in this age group. abstract OBJECTIVE: Scabies has a clinical presentation that seems to vary according to age. We conducted a prospective study with the goal of delineating the clinical presentation of the disease into 3 groups of age: infants, ,2 years; children, 2 to 15 years; and adults, .15 years. METHODS:This trial was a prospective, multicenter observational study in consecutive patients with a confirmed diagnosis of scabies who were seen in 13 French Departments of Dermatology and Pediatric Dermatology between April 2010 and April 2011. A standardized questionnaire was completed for each patient. To identify factors associated with patient age, comparisons between the 3 age groups were conducted by using univariate and multivariate multinomial logistic regression analyses.RESULTS: A total of 323 individuals were included; the gender ratio (female:male) was 1.2:1. In univariate analysis, infants were more likely to have facial involvement. In multivariate logistic regression, relapse was more frequent in children (odds ratio [OR] .51]) involvement were also found to be independently associated with the age group ,2 years. CONCLUSIONS:There is a specific clinical presentation of scabies in infants and children. Taking into account these specificities may be helpful for the early diagnosis and the identification of cases to prevent the propagation of the disease. Pediatrics 2014;133:e910-e916 AUTHORS:
Paediatric LyP belongs to the group of CD30-positive CTLPDs including C-ALCL. Children have to be carefully followed up lifelong, even if the prognosis appears good. The high frequencies of an associated viral infection, atopic dermatitis, marked eosinophilic infiltrate and a good outcome suggest that paediatric LyP could be considered a reactional disease rather than a malignant disorder.
Summary Background Scabies is a frequent condition seen in infants and children. Only topical treatments have been approved in infants, but some of them are poorly tolerated. Oral ivermectin is approved for the treatment of scabies in several countries, but its use in infants and children weighing < 15 kg is off label. Objectives To assess the safety of ivermectin in infants and young children, and to collect data on ivermectin efficacy in these age groups. Methods This study was performed in the dermatology and paediatric dermatology departments of 28 French centres between July 2012 and November 2015. Physicians treating an infant or child weighing < 15 kg for scabies with oral ivermectin were asked to send back a completed standardized and anonymous questionnaire, and the data were analysed. Results Data were collected on 170 infants and children aged 1–64 months, with a body weight of 4–14·5 kg, who were treated with oral ivermectin. The mean dose received was 223 μg kg–1 and 89% of the patients received a systematic second dose. Concomitant topical treatment was administered to 73% of patients. Adverse events were reported in seven patients (4%) and were not severe. At the follow‐up visit, 139 (85%) patients had achieved healing. Factors significantly associated with healing were an ivermectin dose > 200 μg kg–1 (P < 0·001), and a delay between those two doses of < 10 days (P = 0·025). Conclusions Our findings suggest the safety and efficacy of ivermectin for the treatment of scabies in infants and young children. What's already known about this topic? Scabies is a frequent condition in small children and infants, but the therapeutic options are limited. Ivermectin has been approved for the treatment of scabies in adults and children > 15 kg, but its use is off‐label in infants and children weighing < 15 kg. Safety data on the use of ivermectin in children weighing < 15 kg are limited. What does this study add? Of 170 infants and children weighing < 15 kg who were treated for scabies with oral ivermectin, there were only seven reported mild adverse events and no serious ones. Our results show that ivermectin is effective in treating scabies in 85% of patients. Efficacy is higher when the received dose exceeds 200 μg kg–1 and when the delay between the two doses is < 10 days. Respond to this article
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