Approach to clinically significant vascular anomalies in children.

Vascular anomalies consist of tumours or malformations made up of abnormal growth or collections of blood vessels that can result in functional or cosmetic problems. While many vascular anomalies are present at birth, some do not appear until later in life, making diagnosis more challenging. Although many vascular anomalies are benign, some are associated with serious complications and may involve multiple organ systems. This article highlights the important features of clinically significant vascular anomalies to help physicians promptly identify and refer these cases to a specialised multidisciplinary team for evaluation and management. The discussion includes the various presenting complaints of vascular anomalies in children, namely, rapidly growing birthmarks, painful lesions, seizures/neurological manifestations, bleeding diathesis, cardiac/airway abnormalities and part of an overgrowth syndrome.

Rumpel-Leede Phenomenon-An alarming rash with benign etiology in 4 healthy infants.

The Rumpel-Leede phenomenon (RLP) is a rare clinical presentation and in some cases shown to be related to serious systemic conditions. In children, it has been described in association with idiopathic thrombocytopenic purpura and Henoch-Schönlein purpura. We present a series of pediatric cases of RLP with mechanical etiologies that had a benign course. We propose minimal investigations for pediatric RLP cases who are systemically well and have a clear suggestive history of a mechanical cause.

Clear Cell Papulosis: A Rare Pediatric Dermatosis.

The diagnosis and management of pediatric hypopigmented lesions can be challenging given their wide range of differentials. In this case report, we present a case of a 3-year-old Chinese boy who was initially treated for tinea versicolor but subsequently diagnosed to have clear cell papulosis. The features, diagnosis, and management of clear cell papulosis are discussed in this article to raise awareness of this condition amongst pediatricians.

Comparison of the Simple Patient-Centric Atopic Dermatitis Scoring System PEST with SCORAD in Young Children Using a Ceramide Dominant Therapeutic Moisturizer.

INTRODUCTION: Patient eczema severity time (PEST) is a new atopic dermatitis (AD) scoring system based on patients' own perception of their disease. Conventional scales such as SCORing of atopic dermatitis (SCORAD) reflect the clinician's observations during the clinic visit. Instead, the PEST score captures eczema severity, relapse and recovery as experienced by the patient or caregiver on a daily basis, promoting patient engagement, compliance with treatment and improved outcomes. This study aims to determine the correlation between carer-assessed PEST and clinician-assessed SCORAD in paediatric AD patients after 12 weeks of treatment using a ceramide-dominant therapeutic moisturizer. METHODS: Prospective, open-label, observational, multi-centre study in which children with AD aged 6 months to 6 years were treated with a ceramide dominant therapeutic moisturizer twice daily for 12 weeks; 58 children with mild-to-moderate AD were included. Correlation between the 7-day averaged PEST and SCORAD scores for assessment of AD severity was measured within a general linear model. PEST and SCORAD were compared in week 4 and week 12. RESULTS: At week 12, a moderate correlation was found between the SCORAD and PEST scores (r = 0.51). The mean change in SCORAD and PEST scores from baseline to week 12 was -11.46 [95% confidence interval (CI) -14.99 to -7.92, p < 0.0001] and -1.33 (95% CI -0.71 to -0.10, p < 0.0001) respectively. PEST demonstrated greater responsiveness to change (33.3% of scale) compared to SCORAD (13.8% of scale). CONCLUSION: The PEST score correlates well with the SCORAD score and may have improved sensitivity when detecting changes in the severity of AD. The ceramide-dominant therapeutic moisturizer used was safe and effective in the management of AD in young children. FUNDING: Hyphens Pharma Pte Ltd. TRIAL REGISTRATION: clinicaltrials.gov identifier, NCT02073591.

Non-topical management of recalcitrant paediatric atopic dermatitis.

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.

A Case of Eczematoid Graft-Versus-Host Disease.

A 13-year-old boy underwent allogeneic hematopoietic stem cell transplantation (HSCT) for underlying acute lymphoblastic leukemia and achieved neutrophil engraftment 28 days after HSCT. He developed ichthyosis 6 weeks after HSCT and then keratotic follicular papules, palmoplantar keratoderma, and a seborrheic dermatitis-like eruption 18 weeks after HSCT. From skin biopsies he was diagnosed with eczematoid graft-versus host disease (GVHD), which showed spongiosis with scattered necrotic keratinocytes. He responded to oral and topical steroids and an increase in cyclosporine dose. Although uncommon, eczematoid GVHD must be considered in children who have undergone HSCT and then develop an atypical eczematous eruption, especially in the absence of a history of atopy.

Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.

UNLABELLED: Tricho-hepato-enteric syndrome (THE-S) is characterized by severe infantile diarrhea, failure to thrive, dysmorphism, woolly hair, and immune or hepatic dysfunction. We report two cases of East Asian descent with THE-S who had remained undiagnosed despite extensive investigations but were diagnosed on whole exome sequencing (WES). Both cases presented with chronic diarrhea, failure to thrive, and recurrent infections. Case 1 had posteriorly rotated low set ears, mild retrognathia, and fine curly hypopigmented hair. She was managed with prolonged total parenteral nutrition and intravenous immunoglobulin infusions. Case 2 had sparse coarse brown hair as well as multiple lentigines and café-au-lait macules. She was managed with amino acid-based formula. For both cases, routine investigations were inconclusive. WES in both cases showed biallelic truncating mutations in TTC37 (c.3507T>G;p.Y1169X and c.3601C>T;p.R1201X in case 1 and c.3507T>G;p.Y1169X and c.154G>T;p.E52X in case 2), suggesting a diagnosis of THE-S. CONCLUSION: We present novel mutations in the TTC37 gene in two individuals of East Asian descent with the rare THE-S, detected by WES. Future identification of patients with THE-S and establishing genotype-phenotype correlations will aid in counseling the patients and their families. WHAT IS KNOWN: • Tricho-Hepato-Enteric syndrome (THE-S) is characterized by severe infantile diarrhea, failure to thrive, dysmorphism, woolly hair, and immune or hepatic dysfunction. • Complex patients with diagnostic dilemmas undergo extensive investigations. What is New: • This is a report of novel mutations in TTC37 in individuals of East Asian descent. • Whole exome sequencing (WES) can be useful in certain complex cases with diagnostic dilemmas.

Neonatal and Paediatric Extracorporeal Membrane Oxygenation (ECMO) in a Single Asian Tertiary Centre.

INTRODUCTION: Extracorporeal membrane oxygenation (ECMO) is a cardiopulmonary bypass technique (CPB) which provides life-saving support in patients with refractory cardiorespiratory failure until cardiopulmonary recovery or organ replacement. MATERIALS AND METHODS: This is a single centre retrospective study reporting the largest series of paediatric patients in Singapore who received ECMO support over an 11-year period from January 2002 to December 2012. The objective is to describe the characteristics of the patients and to report the survival to hospital discharge, complications during ECMO and other long-term complications. RESULTS: Forty-eight patients received ECMO during the study period. ECMO was initiated for myocarditis in majority of the paediatric patients whereas postoperative low cardiac output state was the most common indication in the neonatal population. The overall survival rate to hospital discharge was 45.8%. Survival was highest in the neonates with respiratory failure (75%). Haematological and cardiac complications were most common during ECMO. Age group, gender, duration of ECMO, need for renal replacement therapy, acute neurological complications were not associated with mortality. Those needing inotropic support during ECMO had poorer survival while those with hypertension requiring vasodilator treatment had a higher survival rate. The survival rates for ECMO patients more than doubled from the initial 6 years of 23% to 54% in the last 5 years of the study period. Long-term complications encountered included neurological, respiratory and cardiac problems. CONCLUSION: ECMO is a life-saving modality for neonatal and paediatric patients with cardiopulmonary failure from diverse causes. Patients with persistent need for inotropes during ECMO had poorer outcome. Centre experience had an impact on ECMO outcome.

Delayed presentation of prolonged hyperinsulinaemic hypoglycaemia in a preterm small-for-gestational age neonate.

Hyperinsulinaemic hypoglycaemia in small-for-gestational age infants usually presents in the first two postnatal days. We present a preterm, small-for-gestational age infant who had hyperinsulinaemic hypoglycaemia on day 13 of life. A female twin infant weighing 1390 g was born at 32(+6) weeks of gestation. Her glycaemic profile was normal till day 13 of life, after which she was noted to be lethargic and hypoglycaemic and had hyperinsulinism, hypoketonaemia and hypofattyacidaemia, requiring high glucose infusion rate to maintain normoglycaemia, while negative for septic markers and metabolic screen. Initially, there was no response to diazoxide and the genetic studies for ABCC8 and KCNJ11 gene mutations were negative. Delayed response to diazoxide was followed by complete resolution of hypoglycaemia in 5 months. This case highlights the importance of glucose monitoring in small-for-date infants for hypoglycaemia till they achieve full feeds and gain weight. Early recognition and appropriate management of hypoglycaemia in this group of infants have important implications for neurodevelopmental outcome.

Is prophylactic atropine necessary during ketamine sedation in children?

AIM: To quantify clinically significant hypersalivation and other adverse events requiring intervention, with and without the use of atropine during ketamine use, using a consensus-based, standardised terminology. METHODS: This was a retrospective study based on paediatric patients who received ketamine for procedures done at the children's emergency department from July 2010 to September 2010. Patients who were given atropine were compared with patients who were not given atropine with regard to clinically significant hypersalivation. All other side effects of ketamine (airway, respiratory, cardiovascular, neurological and gastrointestinal side effects) were documented. RESULTS: Two out of the 164 (1.2%) patients who received atropine and 1 out of the 119 (0.8%) patients who did not receive atropine had desaturation (odds ratio (OR) 1.5; 95% CI 0.1-16.3). These three patients were all under 5 years old (P = 0.3) and had airway malalignment requiring repositioning. None had hypersalivation requiring intervention. Two out of 164 (1.2%) who received atropine and 3 out of 119 (2.5%) who did not receive atropine had vomiting (OR 0.5; CI 0.1-2.9). One patient who vomited did not receive atropine and was given ondansetron. The others had delayed discharges following a longer period of observation in the unit. CONCLUSIONS: There was no clinically significant hypersalivation in children given ketamine sedation, with or without the coadministration of atropine. Ketamine is a relatively safe drug for use in children with few intervention-based side effects.