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To establish the epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa (EB) in New Zealand (NZ).Participants were recruited through the Dystrophic Epidermolysis Bullosa Research Association of New Zealand (DEBRA NZ). Dedicated EB nurse medical records, Genetic Health Service NZ (GHSNZ) records and, where available, public hospital records were manually reviewed for relevant clinical data.Ninety-two participants took part in the study (56% participation rate). Forty-nine (53%) participants had EB simplex (EBS), 40 (43%) had dystrophic EB (DEB), and 3 (3%) had junctional EB (JEB). Point prevalence for EB of all types was 19.5 per million, and 10.4, 8.6 and 0.9 per million for EBS, DEB and JEB, respectively. Thirty-four participants had intermediate or severe EB. There were 29 paediatric cases and almost even numbers of males and females. Compared to NZ European and Māori, prevalence rates were lower for Pacific and Asian people and higher in the Middle Eastern/Latin American/African population. Eight out of 14 skin biopsy results were informative, and 14 of 15 genetic test results were informative.New Zealand has similar prevalence rates of EB compared with other national cohorts. This is likely to be an underestimate due to methodological limitations. Recent advancements in genomic testing have resulted in an improved diagnostic rate in our population. Further research into ethnic differences in prevalence, and exploring the characteristics of lethal forms of EB, is warranted. A dynamic registry may be helpful for the EB community in NZ.

BackgroundImpetigo is a common and contagious bacterial skin infection, affecting children worldwide but it is particularly prevalent in deprived communities. In New Zealand widespread prescribing of the topical antibiotic fusidic acid had led to an increase in antimicrobial resistance of Staphylococcus aureus. Alternative treatments are urgently being sought and as impetigo is a superficial infection, it has been suggested that topical antiseptics such as hydrogen peroxide or simple wound care alone may treat impetigo while avoiding the risk of increased antimicrobial resistance.MethodsThis protocol for a non-inferiority, single-blind randomised controlled trial compares topical fusidic acid with topical hydrogen peroxide and with simple wound care in the treatment of childhood impetigo. Participants are randomised to one of the three treatments for five days and the primary outcome is clinical improvement. This is assessed through paired photographs analysed by graders blinded to treatment arm. The trial is based in school health clinics in an urban centre in New Zealand. Comparison of antimicrobial resistance patterns pre- and post-treatment is also performed.DiscussionSpecial note is made of the need to involve the communities most affected by impetigo in the design and implementation of the clinical trial in order to recruit the children most in need of safe and effective treatments.Trial registration: Australian New Zealand Clinical Trials Registry (ANZCTR) 12616000356460

Granular parakeratosis (GP) is a benign dermatosis characterised by a rash at intertriginous sites. The pathogenesis is uncertain although it is proposed to be an irritant contact reaction with cases related to benzalkonium chloride (BAC) reported. Our experience is that patients often have delayed diagnosis. This study aims to review the clinical presentation and histopathological features of GP.This study is a retrospective case series of adult and paediatric patients seen at dermatology clinics in Auckland, New Zealand. Information was collected on patient demographics, presentation, investigations and management.Thirteen cases (seven adults; six children) are included. The typical presentation of GP was erythematous or brown, scaly papules and plaques with desquamation in a predominantly flexural distribution. All patients reported recent exposure to BAC in laundry rinse solution. Nine biopsies were taken from four patients. Psoriasiform and eczematous findings were common on histopathology. The mainstay of treatment was cessation of BAC exposure.GP has a distinct clinical pattern although histopathological findings are varied. Clinicians should have a high index of suspicion for GP in patients presenting with erythematous flexural eruptions and seek a history of BAC exposure, especially in the context of the COVID-19 pandemic and increased antiseptic use.

AIM To evaluate methotrexate (MTX) for paediatric atopic dermatitis (AD) while on and post-treatment. METHODS Medical records of children prescribed MTX for AD between 2011 and 2016 at Starship Children's Hospital, Auckland, New Zealand, were reviewed for demographics, dose and duration of MTX and hospitalisations for AD. In the follow-up by telephone in 2017, parents of the patients reported response on MTX, AD relapses and use of additional systemic treatment and completed a patient-oriented eczema measure (POEM). RESULTS Forty-three patients aged 2-16 years were included. Four (9%) had previous systemic treatment, and 14 (33%) were hospitalised (28 admissions). MTX was given at median dose of 0.33 mg/kg (interquartile range (IQR) 0.26-0.40) for a median of 17 months (IQR 7.5-20). After initiating MTX, only six (14%) were hospitalised (nine admissions). Thirty (70%) parents of patients were followed up for a median of 29 months (IQR 14-45) after discontinuing MTX. Five (17%) reported 'no change', 2 (7%) 'slightly better' and 23 (77%) 'a lot better' AD on MTX. Of the 25 who responded to MTX, AD relapsed in 10 (40%) at a median of 24 months post-MTX; only four (16%) restarted MTX. Median POEM at follow-up was 6 (IQR 1-17). Eleven (37%) were clear (POEM 0-2), 11 (37%) had mild to moderate AD (POEM 3-16), and 8 (27%) had severe AD (POEM ≥17). CONCLUSIONS Although a natural resolution cannot be excluded, MTX for severe AD was effective and well tolerated. Improvement was reported by 83%, and AD hospitalisation reduced by half. At a median of 2 years after discontinuing MTX, one third were clear, and one third had mild to moderate AD, suggesting persistence of benefit post-MTX.

Amyloidosis cutis dyschromica (ACD) is a rare form of primary cutaneous amyloidosis (PCA). There is a paucity of information in the dermatology literature to guide its diagnosis, investigation and treatment. We present two siblings with ACD and summarise the epidemiology, clinical features, natural history and treatments in 48 cases of ACD from the literature. Familial cases were more common (37) than sporadic cases. ACD is predominantly reported in those of East and South-East Asian ethnicity (63%). The mean age of onset was 6 years in familial cases, and 23 years in sporadic cases. The clinical features of familial and sporadic ACD do not differ substantially. Pruritus was the only symptom, and was reported in 19% of all cases. There were no reported ACD cases with systemic amyloidosis. Acitretin was reported to result in improvement in seven of 10 patients treated. Routine investigation for systemic involvement is not necessary. Acitretin may be helpful.

Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare, idiopathic, acquired dermatosis that can affect all ages and ethnic groups. We present a 10-year-old patient with FUMHD associated with arthritis and chronic fatigue, managed with methotrexate. Through our literature review, we also explore treatment protocols for a disease for which internationally standardized management is yet to be formulated.

Food avoidance in children is increasingly common due to concerns about allergy. We aim to review the current literature on paediatric non-IgE mediated food allergy including what is known about pathophysiology, diagnosis, management and prognosis of common and severe presentations. Considerations regarding appropriate formula selection are also presented.Common non-IgE mediated conditions were searched through common medical databases. Thorough review of available literature was then synthesised and critically appraised.Current understanding of immunological mechanisms of most non-IgE mediated conditions remains elusive. Most conditions are outgrown in childhood and have a good prognosis. Dietary modification for some conditions is important to ensure safety. They are not recommended in all situations due to potentially harmful consequences.Assessment of children with concerns regarding non-IgE mediated conditions requires a thorough history and is generally not supported by reliable diagnostic tests. Caution is warranted when advising families to undertake dietary exclusions unless well supported by the evidence and ensuring benefits outweigh any potential harm.

Imatinib mesylate was the first of several tyrosine kinase inhibitors approved for use in the treatment of a number of human cancers. Adverse cutaneous reactions to imatinib are common. Pseudoporphyria has been infrequently reported in adults undergoing imatinib therapy for chronic myeloid leukemia. We present two children with pseudoporphyria induced by imatinib therapy for hematologic malignancies. In view of the burgeoning use of imatinib in children, physicians should be aware that pseudoporphyria may develop as a consequence of imatinib therapy.

A boy was born with multiple anomalies, including right hemifacial microsomia, eye abnormalities, syndactyly, right hand ectrodactyly, hypoplastic nails, omphalocele, bladder exstrophy, renal dilatation, and splayed symphysis pubis. The skin was also abnormal, with atrophic skin plaques and areas of telangiectasia along the lines of Blaschko. The karyotype was 47,XXY (Klinefelter syndrome). He was found to have a heterozygous mutation in the PORCN gene. He exhibited the classical features of focal dermal hypoplasia. Fewer than 15% of reported cases are male when it is thought to be due to postzygotic mutation and thus mosaic. This is the first reported boy to have heterozygous mutation for Goltz syndrome who survived due to the extra X chromosome.

Aim: New Zealand (NZ) has a large pertussis disease burden compared with other developed countries. Accurate ascertainment of disease burden is fundamental to controlling pertussis and informing immunisation policy. Disease burden estimates are primarily from passive surveillance, which underestimates disease incidence. The aim of this study is to use active surveillance to determine pertussis disease burden in infants hospitalised in NZ. Methods: Using the NZ Paediatric Surveillance Unit, active surveillance from 08/2004 to 07/2005 for infants

Aim: To examine the associations between acne and depressive symptoms, anxiety and suicidal behaviours. Methods: This was a secondary analysis of a cross-sectional survey -'Youth2000' (New Zealand national survey of youth health). A total of 9567 secondary school students aged 12-18 years participated in the survey. The main outcome measures were self-reported acne, depressive symptoms (Reynolds Adolescent Depression Scale > 77), anxiety (Anxiety Disorder Index from Multidimensional Anxiety Scale for Children) and self-reported suicide attempts. Results: 'Problem acne' was associated with an increased probability of depressive symptoms, odds ratio 2.04 (95% confidence interval 1.70-2.45); anxiety, odds ratio 2.3 (1.74-3.00); and suicide attempts, odds ratio 1.83 (1.51-2.22) in a logistic model that included age, gender, ethnicity, school decile and socio-economic status. The association of acne with suicide attempts remained after controlling for depressive symptoms and anxiety, odds ratio 1.50 (1.21-1.86). Conclusion: Young people presenting with acne are at increased risk of depression, anxiety and suicide attempts. Attention should be paid to their mental health, and the importance of asking directly regarding suicide is emphasised. Language: en

To describe the epidemiology of acne in New Zealand adolescents and their access to acne treatment.Secondary analysis of data collected in the 'Youth2000' survey. A random sample of 12,934 Year 9-13 students, from 133 secondary schools across New Zealand, was invited to participate. The survey included items asking about self-perceived acne and access to acne treatment.The 'Youth2000' school response rate was 85.7%, the student response rate 75.0%, and the overall response rate 64.3%. Of the 9570 students who completed the questions on acne, 67.3% reported having acne. 'Problem acne' was reported by 14.1% of students and was more frequently reported by female, Pacific, and older students. Students with 'problem acne' (as well as female, Maori, and Pacific students) were significantly more likely to report difficulty accessing medical treatment for acne (46.0% vs 13.3%; OR 5.29). These differences persisted after controlling for socioeconomic factors.Acne is perceived as a significant health problem by nearly 1 in 7 adolescents. For those with 'problem acne,' effective treatment is available but not necessarily accessible. There are also disparities in access to treatment, particularly for females, Maori, and Pacific ethnic groups. This important youth health issue needs to be addressed.

Objective: To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients. Design: Multicenter, retrospective, questionnaire-based survey. Setting: Dermatology research institute. Participants: Patients with harlequin ichthyosis for whom we had performed ABCA12 mutation analysis. Main Outcome Measures: Referring physicians were asked to complete a questionnaire using the patients' notes, detailing the clinical outcome of the affected child. In each case, the causative ABCA12 mutation was identified using standard polymerase chain reaction and sequencing techniques. Results: Of the 45 cases, the ages of the survivors ranged from 10 months to 25 years, with an overall survival rate of 56%. Death usually occurred in the first 3 months and was attributed to sepsis and/or respiratory failure in 75% of cases. The early introduction of oral retinoids may improve survival, since 83% of those treated survived, whereas 76% who were not given retinoids died. Recurrent skin infections in infancy affected one-third of patients. Problems maintaining weight affected 44%. Three children developed an inflammatory arthritis, and developmental delay was reported in 32%. Mutation analysis revealed that 52% of survivors had compound heterozygous mutations, whereas all deaths were associated with homozygous mutations. Conclusions: Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing. Compound heterozygotes appear to have a survival advantage.