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There are several histologic patterns seen in lymphomatoid papulosis, with the possibility of different subtypes occurring in the same patient. We report a case of lymphomatoid papulosis presenting with 2 histologic subtypes (types A and B) occurring concomitantly in a 10-year-old child, and postulate that the different subtypes occur dependent on the age of the lesion biopsied. Incidentally, one of the biopsies also shows a rarely seen pattern of pseudoepitheliomatous hyperplasia in a pediatric lymphomatoid papulosis patient.

ObjectiveTo test the utility and diagnostic yield of a medical-exome gene panel for identifying pathogenic variants in Mendelian disorders.MethodsNext-generation sequencing was performed with the TruSight One gene panel (targeting 4813 genes) followed by MiSeq sequencing on 216 patients who presented with suspected genetic disorders as assessed by their attending physicians.ResultsThere were 56 pathogenic and 36 likely pathogenic variants across 57 genes identified in 87 patients. Causal mutations were more likely to be truncating and from patients with a prior clinical diagnosis. Another 18 promising variants need further evaluation for more evidence to meet the requirement for potential upgrade to pathogenic. Forty-five of the 92 clinically significant variants were novel.ConclusionThe 40.3% positive yield compares favourably with similar studies using either this panel or whole exome sequencing, demonstrating that large gene panels could be a good alternative to whole exome sequencing for quick genetic confirmation of Mendelian disorders.

Herpes simplex virus (HSV) and varicella zoster virus (VZV) are related members of the Herpesviridae family and are well-documented human pathogens causing a spectrum of diseases, from mucocutaneous disease to infections of the central nervous system. This study was carried out to evaluate and validate the performance of a multiplex real-time polymerase chain reaction (PCR) assay in detecting and differentiating HSV1, HSV2, and VZV from clinical samples. Consensus PCR primers for HSV were designed from the UL30 component of the DNA polymerase gene of HSV, with 2 separate hydrolysis probes designed to differentiate HSV1 and HSV2. Separate primers and a probe were also designed against the DNA polymerase gene of VZV. A total of 104 clinical samples were available for testing by real-time PCR, conventional PCR, and viral culture. The sensitivity and specificity of the real-time assay was calculated by comparing the multiplex PCR result with that of a combined standard of virus culture and conventional PCR. The sensitivity of the real-time assay was 100, with specificity ranging from 98 to 100 depending on the target gene. Both PCR methods detected more positive samples for HSV or VZV, compared with conventional virus culture. This multiplex PCR assay provides accurate and rapid diagnostic capabilities for the diagnosis and differentiation of HSV1, HSV2, and VZV infections, with the presence of an internal control to monitor for inhibition of the PCR reaction.

This study summarizes current research and understanding of the pathogenesis of Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) and provides an update on the treatment of these conditions in children.

Atopic dermatitis (AD) is a common chronic, pruritic skin disease in children. As the incidence of AD increases, especially in high-income countries, paediatricians may see an increasing number of recalcitrant AD cases in their practice. Although these cases are principally managed by paediatric dermatologists, it is important for paediatricians to be aware of the use and side effects of non-topical treatment like phototherapy and systemic agents as well as the evidence for alternative treatment, which caregivers may ask about. This review presents paediatric evidence for the practical use of phototherapy and certain oral immunosuppressants for paediatric AD including doses, duration of use and monitoring of adverse effects. The use of alternative therapy including traditional medicine, probiotics and the role of nutrition are also discussed. Narrow band ultraviolet B phototherapy is effective in recalcitrant paediatric AD. When phototherapy is ineffective or contraindicated, systemic drugs may be administered cautiously with close surveillance of side effects. The use of azathioprine, ciclosporin, methotrexate and mycophenolate mofetil is generally safe in the short term under close monitoring and can be effective alongside compliance to topical treatment. Alternative complementary treatment is not known to be effective. Holistic management including therapeutic patient education is important. Good quality paediatric studies for non-topical AD treatment are needed for definitive guidelines.