ORCID Profile
0000-0002-4021-5423
Current Organisations
University of Stuttgart
,
University of Melbourne
,
Monash University
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Publisher: Elsevier BV
Date: 09-2021
Publisher: Springer Science and Business Media LLC
Date: 15-05-2023
Publisher: Wiley
Date: 04-09-2015
DOI: 10.1111/IJD.13055
Publisher: Springer New York
Date: 2015
Publisher: Medical Journals Sweden AB
Date: 2017
Abstract: Epidermolysis bullosa simplex (EBS) is a rare heritable skin fragility disorder, most commonly caused by dominant mutations in KRT5 and KRT14. EBS shows clinical heterogeneity with localised, intermediate and generalised severe forms, which tend to correlate with the location and nature of the disease causing mutations. We therefore aimed to identify the KRT5 and KRT14 mutations in patients diagnosed with EBS in Australia, and explore in depth the genotype to the phenotype correlations in patients with novel variants. Australian patients who were diagnosed with EBS after referral to the Australian National Diagnostic Laboratory for EB were offered mutation screening in the KRT5 and KRT14 genes. From this, 32 different mutations in KRT5 and KRT14 were identified within 39 of 52 pedigrees. Ten of these mutations from 9 different pedigrees were novel, a further fatal case caused by KRT5 E477K is reported and in addition the third reported case of digenic inheritance in EBS was also observed.
Publisher: Wiley
Date: 04-04-2022
DOI: 10.1111/CEA.14139
Abstract: The heterogeneity of development and progression of eczema suggests multiple underlying subclasses for which aetiology and prognosis may vary. A better understanding may provide a comprehensive overview of eczema development and progression in childhood. Thus, we aimed to determine longitudinal eczema subclasses based on assessments and identify their associations with risk factors and allergic outcomes. A total of 619 participants with a family history of allergic disease were assessed at 24 time-points from birth to 12 years. At each time, eczema was defined as the report of current rash treated with topical steroid-based preparations. Longitudinal latent class analysis was used to determine eczema subclasses. Subsequent analyses using regression models assessed the associations between eczema subclasses and potential risk factors and allergic outcomes at 18- and 25-year follow-ups (eczema, allergic rhinitis, asthma and allergic sensitization). We identified five eczema subclasses 'early-onset persistent', 'early-onset resolving', 'mid-onset persistent', 'mid-onset resolving' and 'minimal eczema'. Filaggrin null mutations were associated with the early-onset persistent (OR = 2.58 [1.09-6.08]) and mid-onset persistent class (OR = 2.58 [1.32-5.06]). Compared with 'minimal eczema', participants from early-onset persistent class had higher odds of eczema (OR = 11.8 [5.20-26.6]) and allergic rhinitis (OR = 3.13 [1.43-6.85]) at 18 and at 25 years eczema (OR = 9.37 [3.17-27.65]), allergic rhinitis (OR = 3.26 [1.07-9.93]) and asthma (OR = 2.91 [1.14-7.43]). Likewise, mid-onset persistent class had higher odds of eczema (OR = 2.59 [1.31-5.14]), allergic rhinitis (OR = 1.70 [1.00-2.89]) and asthma (OR = 2.00 [1.10-3.63]) at 18 and at 25 years eczema (OR = 6.75 [3.11-14-65]), allergic rhinitis (OR = 2.74 [1.28-5.88]) and asthma (OR = 2.50 [1.25-5.00]). Allergic and food sensitization in early life was more common in those in the persistent eczema subclasses. We identified five distinct eczema subclasses. These classes were differentially associated with risk factors, suggesting differences in aetiology, and also with the development of allergic outcomes, highlighting their potential to identify high-risk groups for close monitoring and intervention.
Publisher: American Medical Association (AMA)
Date: 06-2010
DOI: 10.1001/ARCHDERMATOL.2010.109
Abstract: To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. Observational study (cross-sectional and longitudinal). Australian private dermatology practice, inpatient ward, and outpatient clinic. Systematic case finding of patients with EB simplex, junctional EB (JEB), and dystrophic EB and data collection were performed throughout Australia and New Zealand from January 1, 2006, through December 31, 2008. Patients were consecutively enrolled in the study after clinical assessment and laboratory diagnosis. Medical records were retrospectively examined, and physicians involved in EB care were contacted to obtain patient history. A Herlitz JEB case series was prepared from registry data. Demographics and prognosis of patients with Herlitz JEB. A total of 259 patients were enrolled in the study: 139 with EBS, 91 with dystrophic EB, 28 with JEB, and 1 with Kindler syndrome. Most enrollees were Australian citizens (n = 243), with an Australian prevalence rate of 10.3 cases per million. The age range in the registry was birth to 99 years, with a mean and median age of 24.1 and 18.0 years, respectively. Ages were similar in patients with EBS and dominant dystrophic EB but were markedly lower in patients with JEB. Patients with Herlitz JEB (n = 10) had the highest morbidity and mortality rates, with a mean age at death of 6.8 months. Sepsis, failure to thrive, and tracheolaryngeal complications were the leading causes of death. The Australasian EB registry is the first registry in Australia and New Zealand to provide original data on age, sex, ethnicity, and geographical and disease subtype distribution. The Australasian Herlitz JEB cohort witnessed a high infant mortality rate and poor prognosis overall.
Publisher: Elsevier BV
Date: 03-2021
Publisher: Elsevier BV
Date: 02-2005
Publisher: Wiley
Date: 09-11-2006
DOI: 10.1111/J.1440-1754.2006.00984.X
Abstract: Pseudoxanthoma elasticum (PXE) is a hereditary disorder of elastic tissue. The characteristic skin changes are asymptomatic yellow papules around the neck and in body folds giving the skin a characteristic cobblestone appearance. The eyes, cardiovascular and gastrointestinal systems are also commonly involved. In this case-series, we present a family of four children, three of whom demonstrated erse manifestations of PXE. The first child presented with sudden death at age 3 and showed marked coronary and renal arterial intimal fibrosis with prominent fragmentation of the internal elastic lamina, initially attributed to idiopathic arterial calcification. The second child presented with clinical features and histology of the skin typical of PXE at age 11 and the third child, with abnormal, but non-specific cardiological findings at age 8, which raised the possibility of an early stage of PXE. This report emphasizes the importance of considering pseudoxanthoma elasticum in erse clinical settings, early diagnosis and appropriate screening for asymptomatic family members.
Publisher: Elsevier BV
Date: 09-2018
Publisher: Wiley
Date: 03-10-2016
DOI: 10.1111/JDV.13953
Publisher: Wiley
Date: 04-05-2017
DOI: 10.1111/PAI.12714
Abstract: Few studies have simultaneously addressed the importance of age of onset and persistence of eczema for the subsequent development of asthma and hay fever, particularly into early adulthood. A high-risk birth cohort was recruited comprising 620 infants, who were then followed up frequently until 2 years of age, annually from age 3 to 7, then at 12 and 18 years, to document any episodes of eczema, current asthma, and hay fever. The generalized estimation equation technique was used to examine asthma and hay fever outcomes at 6 (n = 325), 12 (n = 248) and 18 (n = 240) years, when there was consistency of associations across the follow-ups. Very early-onset persistent (onset <6 months, still present from 2 to 5 years) eczema was related to current asthma (adjusted OR = 3.2 [95% CI = 1.7-6.1]), as was very early-onset remitting eczema (onset <6 months but not present from 2-5 years, OR = 2.7, 95% CI = 1.0-7.2) and early-onset persistent eczema (onset from 6-24 months, OR = 2.3, 95% CI = 1.2-4.7). Late-onset eczema (commenced from 2-5 years) was associated with increased risk of asthma at 12 years (OR = 3.0, 95% CI=1.1-8.2) but not at age 6 years. Only very early-onset persistent eczema was associated with increased risk of hay fever (aOR = 2.4, 95% CI = 1.4-4.1). Eczema which commences in early infancy and persists into toddler years is strongly associated with asthma, and to a lesser extent hay fever, in high-risk children. If these associations are causal, prevention of early-life eczema might reduce the risk of respiratory allergy.
Publisher: Wiley
Date: 04-03-2021
DOI: 10.1111/ALL.14783
Abstract: There is limited information on risk factors for eczema in adults. Recent evidence suggests that air pollution may be associated with increased incidence of eczema in adults. We aimed to assess this possible association. Ambient air pollution exposures (distance from a major road, nitrogen dioxide [NO 2 ], fine particulate matter with an aerodynamic diameter ≤2.5 µm [PM 2.5 ]) were assessed for the residential address of Tasmanian Longitudinal Health Study participants at ages 43 and 53 years. Eczema incidence (onset after age 43 years), prevalence (at 53 years), and persistence were assessed from surveys, while IgE sensitization was assessed using skin prick tests. The presence or absence of eczema and sensitization was classified into four groups: no atopy or eczema, atopy alone, non‐atopic eczema, and atopic eczema. Adjusted logistic and multinomial regression models were fitted to estimate associations between ambient air pollution and eczema, and interaction by sex was assessed. Of 3153 participants in both follow‐ups, 2369 had valid skin prick tests. For males, a 2.3 ppb increase in baselineNO 2 was associated with increased odds of prevalent eczema (OR = 1.15 [95% CI 0.98–1.36]) and prevalent atopic eczema (OR = 1.26 [1.00–1.59]). These associations were not seen in females ( p for interaction = 0.08, .01). For both sexes, a 1.6 µg/m 3 increase in PM 2.5 exposure at follow‐up was associated with increased odds of aeroallergen sensitization (OR = 1.15 [1.03–1.30]). Increased exposure to residential ambient air pollutants was associated with an increased odds of eczema, only in males, and aeroallergen sensitization in both genders.
Publisher: Wiley
Date: 20-10-2011
DOI: 10.1111/J.1525-1470.2011.01597.X
Abstract: Sweet's syndrome (SS) is an uncommon condition characterized by recurrent painful cutaneous inflammatory eruptions. It is rare in childhood and has a broad range of extracutaneous manifestations. We describe a child presenting with SS and postinflammatory elastolysis who subsequently developed aortitis complicated by aortic dilatation requiring surgical intervention. Histologic features of the aorta were consistent with Takayasu arteritis (TA). Our case and previously reported cases of pediatric SS complicated by aortitis all demonstrate striking clinical similarities in that all have been associated with postinflammatory elastolysis of involved skin and aneurysmal dilation of the thoracic aorta. We propose that TA should be considered one of the disease associations of SS when complicated by postinflammatory elastolysis and that early referral for cardiovascular screening be considered in this group of patients.
Publisher: Oxford University Press (OUP)
Date: 12-06-2017
DOI: 10.1111/BJD.15376
Abstract: Despite limited evidence, woollen clothing has traditionally been considered to be an irritant that should be avoided by in iduals with atopic dermatitis (AD). Wool fibres come in a range of diameters, and have beneficial thermodynamic and moisture transport properties. This study examines the effects of superfine merino wool on symptoms in participants with mild-to-moderate AD. The trial was a 12-week, randomized, assessor-blinded, crossover, prospective, cohort study of 39 patients with mild-to-moderate AD, aged between 4 weeks and 3 years, comparing superfine merino wool ensembles with standard cotton clothing chosen by parents. Participants were assigned to wool or cotton clothing and assessed every 3 weeks for 6 weeks, before crossing over to wear the other clothing material for a further 6-week period, with similar 3-weekly reviews. The primary end point was the SCORing Atopic Dermatitis (SCORAD) index after each 6-week period, with Atopic Dermatitis Severity Index (ADSI), Infants' Dermatitis Quality Of Life Index (IDQOL) and topical steroid use as secondary end points to measure AD severity and quality of life. Overall, compared with baseline, superfine wool ensembles were associated with a reduction in mean SCORAD of 2·5 [95% confidence interval (CI) -4·7 to -0·4] at 3 weeks and 7·6 (95% CI -10·4 to -4·8) at 6 weeks when compared with the cotton ensembles. A similar change was observed in ADSI and IDQOL scores for the same period. Body steroid use was also reduced. Conversely, changing ensembles from wool to cotton resulted in an increase in scores. Superfine merino wool may assist in the management of childhood AD.
Publisher: Oxford University Press (OUP)
Date: 04-12-2019
DOI: 10.1111/BJD.18643
Publisher: Mark Allen Group
Date: 11-2008
DOI: 10.12968/JOWC.2008.17.11.31476
Abstract: There is little rigorous evidence on the management of epidermolysis bullosa, so management is based on the patient’s and clinician’s preferences. However, there is a consensus that advanced dressings help promote healing and reduce pain
Publisher: Wiley
Date: 21-03-2021
DOI: 10.1111/AJD.13279
Publisher: Elsevier BV
Date: 10-2020
Publisher: Wiley
Date: 28-06-2021
DOI: 10.1111/AJCO.13585
Abstract: Ribociclib is an inhibitor of cyclin‐dependent kinases 4 and 6 (CDK 4/6) that is used in combination with an aromatase inhibitor in the first‐line setting for advanced or metastatic hormone receptor positive and human epidermal growth factor receptor 2 (HER2)‐negative breast cancer. We report two cases of drug‐induced vitiligo‐like depigmentation (DI‐VLD) associated with ribociclib. The awareness of this side effect is important given the increasing use of this drug and others with a similar mechanism of action.
Publisher: Oxford University Press (OUP)
Date: 2009
Publisher: Massachusetts Medical Society
Date: 19-02-2015
Publisher: Wiley
Date: 24-08-2011
DOI: 10.1111/J.1440-0960.2010.00684.X
Abstract: Bullous dermolysis of the newborn is an inherited mechano-bullous disorder classed as a rare subtype of dystrophic epidermolysis bullosa. Fewer than 30 cases of bullous dermolysis of the newborn have been reported in the literature and the pathogenesis of the disease is poorly understood. Only a minority of cases have had pathogenic mutations identified. We present a case of a neonate born to non-consanguineous Caucasian parents with an exon 54 (c.5017G > A, p.G1673R) mutation reported as one mutant allele in a case of recessive dystrophic epidermolysis bullosa (generalized other).
Publisher: Oxford University Press (OUP)
Date: 11-2022
DOI: 10.1111/BJD.21771
Abstract: Eczema is a chronic inflammatory skin disease. Domestic water with high mineral content (hard water) is a risk factor for eczema in children, but this association has not been assessed in adults. To examine the association between domestic hard water supply and eczema prevalence and incidence in adults aged 40–69 years and the contextual effect in eczema outcomes by postcode in adults in the UK. We used data from the UK Biobank study collected in 2006–10 (baseline) and 2013–14 (follow-up). Eczema prevalence at baseline (2006–10) and at follow-up (2013–14) and incidence (new onset between baseline and follow-up) were determined from the touchscreen questionnaires and nurse-led interviews. Domestic hard water information was obtained in 2005 and 2013 from the local water supply companies in England, Wales and Scotland as CaCO3 concentrations. We fitted multilevel logistic regression models with random intercepts for postcode areas to examine the effect of domestic hard water on eczema outcomes, and we measured components of variance. In total, 306 531 participants with a mean age of 57 years nested across 7642 postcodes were included in the baseline analysis, and 31 036 participants nested across 3695 postcodes were included in the follow-up analysis. We observed an increase in the odds of eczema at baseline [odds ratio (OR) 1·02, 95% confidence interval (CI) 1·01–1·04] per 50 mg L−1 of CaCO3 increase. Furthermore, exposure to domestic hard water (& 200 mg L−1 of CaCO3) was associated with increased odds of prevalent eczema at baseline (OR 1·12, 95% CI 1·04–1·22). Moreover, there was a significant linear trend (P & 0·001) in which increasing levels of hard water increased eczema prevalence risk. No association was observed with incident eczema or eczema at follow-up. The intraclass correlation coefficient for postcode was 1·6% (95% CI 0·7–3·4), which remained unexplained by area-level socioeconomic measures. Increasing levels of domestic hard water, as measured by CaCO3 concentrations, were associated with an increased prevalence of eczema in adults but not increased incidence. Ongoing efforts to reduce hard water exposure may have a beneficial effect in reducing the burden of eczema in adults. Further research is needed to explore area-level factors that may lead to eczema. What is already known about this topic? Hard water is formed when minerals are dissolved in water from filtration through sedimentary rocks.Several studies have reported a higher prevalence of eczema in areas with hard water.However, all studies on this topic have assessed this in infants and school-aged children, while this association has not been explored in adults. What does this study add? Our findings suggest that exposure to higher concentrations of domestic hard water is associated with an increase in eczema prevalence in adults aged 40–69 years.Ongoing efforts to reduce hard water exposure may have a beneficial effect in reducing eczema prevalence in adults.
Publisher: Wiley
Date: 14-09-2015
DOI: 10.1111/JDV.13210
Abstract: Psoriatic arthritis commonly develops in psoriasis patients and, if undiagnosed, can lead to potentially avoidable joint damage and an increased risk of comorbidity and mortality. Increased awareness of PsA symptoms among dermatologists provides an opportunity for earlier diagnosis, more timely therapy and prevention of disability. To provide Australian epidemiological data on the frequency of undiagnosed PsA among psoriasis patients in dermatology practice, and to investigate the impact of psoriasis on quality of life and work productivity. Nine tertiary centre dermatology practices enrolled patients presenting with plaque psoriasis and no prior rheumatologist-confirmed PsA diagnosis. Patients were screened using the Psoriatic Arthritis Screening and Evaluation (PASE) questionnaire and were referred to a rheumatologist for assessment of PsA status using CASPAR criteria if they had a PASE score ≥44. Based on the composite and sequential application of PASE and CASPAR criteria, undiagnosed PsA among psoriasis patients in this study is 9% [95% CI: 6, 12]. The PPV of PASE in this setting is 26% [95% CI: 19, 34]. Nail involvement and chronic large plaque psoriasis were identified as independent positive predictors of PsA, whereas scalp psoriasis was an independent negative predictor of PsA. Patients with moderate-to-severe psoriasis (PASI ≥15) had lower quality of life scores than patients with less severe psoriasis. In this study, the frequency of undiagnosed PsA in Australian dermatology practice was 9% among plaque psoriasis patients with no prior PsA diagnosis. Compared with psoriasis alone, the impact of undiagnosed PsA on health-related quality of life of psoriasis patients is substantial.
Publisher: Elsevier BV
Date: 2014
DOI: 10.1016/J.JAAD.2013.09.041
Abstract: There is a lack of validated standardized outcome measures for epidermolysis bullosa (EB) that can separate activity from damage. We sought to develop and validate an instrument for inherited EB of all ages and subtypes, the EB Disease Activity and Scarring Index (EBDASI), which scores activity responsive to therapy separately from scarring. The EBDASI was validated by comparing its reliability and validity against the Birmingham EB Severity (BEBS) score (partially validated with activity mixed with scarring), using the Physician Global Assessment (PGA) scale as a reference measurement. Sixteen patients with EB (7 EB simplex, 5 dominant dystrophic EB [DDEB], 2 junctional EB, and 2 recessive dystrophic EB) were assessed by 5 EB experts using the EBDASI, BEBS, and PGA, and data from 9 additional patients assessed on an ad hoc basis during routine patient clinic were also included. For interrater reliability, the overall total score intraclass correlation coefficients (95% confidence intervals) were: EBDASI 0.964 (0.929-0.986), BEBS 0.852 (0.730-0.937), and PGA 0.873 (0.765-0.946). For intrarater reliability, the intraclass correlation coefficients were: EBDASI 0.994 (0.976-0.998), BEBS 0.926 (0.748-0.981), and PGA 0.932 (0.764-0.982). The EBDASI had a higher correlation with PGA (ρ = 0.871) than BEBS with PGA (ρ = 0.852). Intraclass correlation coefficients scatterplots showed the EBDASI was better at distinguishing milder forms of EB, with better correlations at higher severity scores than the BEBS. A limited number of patients were recruited for this study. An independent study will be required to demonstrate the responsiveness of the EBDASI. The EBDASI demonstrated excellent reliability and validity, as compared with 2 other outcome measures.
Publisher: Springer Science and Business Media LLC
Date: 24-03-2020
Publisher: Wiley
Date: 27-07-2022
DOI: 10.1111/PDE.15031
Abstract: Segmental infantile hemangiomas affecting the upper body are associated with PHACE(S) ( P osterior fossa anomalies, H emangioma, A rterial anomalies, C ardiac anomalies, E ye anomalies, and S ternal defects) syndrome, whereas segmental infantile hemangiomas affecting the lower body are the cutaneous hallmark of LUMBAR ( L ower body hemangioma and other skin defects, U rogenital anomalies and U lceration, M yelopathy, B ony deformities, A norectal malformations and A rterial anomalies, and R enal anomalies) syndrome. We present two in iduals with concurrent features of both PHACE and LUMBAR syndromes demonstrating an overlap phenotype. The overlapping features seen in our patients suggest that these syndromes occur on the same phenotypic spectrum and derive from a common embryonic pathophysiology.
Publisher: Springer Science and Business Media LLC
Date: 24-04-2018
DOI: 10.1007/S40257-018-0355-8
Abstract: The number of solid organ transplants has been increasing annually worldwide. Advances in transplantation surgery and community awareness of organ donation have been key contributors. Combined with increased understanding of immunosuppression, there are a growing number of solid organ transplant recipients in the community as a result of improved long-term outcomes. There remains a high incidence of deaths worldwide post-transplant due to non-melanoma skin cancer (NMSC), which has greater morbidity and mortality in this population than in the general community. Many transplant candidates are not screened prior to organ transplantation and not followed up dermatologically after transplant. After a comprehensive review of the MEDLINE database, we present an update of literature on risk factors for melanoma and non-melanoma skin cancer development in transplant recipients. Medications used by transplant recipients, including immunosuppressants and antibiotics, are discussed along with their respective risks of skin cancer development. We conclude with evidence-based recommendations for models of care, including patient education and dermatological review of transplant recipients.
Publisher: Springer Science and Business Media LLC
Date: 02-2007
Publisher: American Medical Association (AMA)
Date: 05-2023
DOI: 10.1001/JAMADERMATOL.2023.0391
Abstract: Atopic dermatitis onset usually occurs in childhood. Persistence of disease into adolescence and adulthood is common. It is important to evaluate new treatment options in adolescents because of the high unmet need in this population. To assess the efficacy and safety of upadacitinib to treat moderate-to-severe atopic dermatitis in adolescents. Prespecified analysis of adolescents enrolled in 3 randomized, double-blind, placebo-controlled phase 3 clinical trials in more than 20 countries across Europe, North and South America, Oceania, the Middle East, and the Asia-Pacific region from July 2018 through December 2020. Participants were adolescents aged 12 to 17 years with moderate-to-severe atopic dermatitis. Data analysis was performed from April to August 2021. Patients were randomized (1:1:1) to once-daily oral upadacitinib 15 mg, upadacitinib 30 mg, or placebo alone (Measure Up 1 and Measure Up 2) or with topical corticosteroids (AD Up). Safety and efficacy, including at least a 75% improvement in the Eczema Area and Severity Index from baseline and validated Investigator Global Assessment for Atopic Dermatitis score of 0 (clear) or 1 (almost clear) at week 16 (coprimary end points). A total of 552 adolescents (290 female 262 male) were randomized. Mean (SD) age was 15.4 (1.8), 15.5 (1.7), and 15.3 (1.8) years for adolescents in Measure Up 1, Measure Up 2, and AD Up, respectively. In Measure Up 1, Measure Up 2, and AD Up, respectively, a greater proportion of adolescents (% [95% CI]) achieved at least 75% improvement in the Eczema Area and Severity Index at week 16 with upadacitinib 15 mg (73% [63%-84%], 69% [57%-81%], 63% [51%-76%]), and upadacitinib 30 mg (78% [68%-88%], 73% [62%-85%], 84% [75%-94%]), than with placebo (12% [4%-20%], 13% [5%-22%], 30% [19%-42%] nominal P & .001 for all comparisons vs placebo). Similarly, a greater proportion of adolescents treated with upadacitinib achieved a validated Investigator Global Assessment for Atopic Dermatitis score of 0 or 1 at week 16 and improvements in quality of life with upadacitinib than with placebo. Upadacitinib was generally well tolerated in adolescents. Acne was the most common adverse event, and all acne events were mild or moderate. In this analysis of 3 randomized clinical trials, upadacitinib was an effective treatment for adolescents with moderate-to-severe atopic dermatitis, with an acceptable safety profile. ClinicalTrials.gov Identifiers: NCT03569293 (Measure Up 1), NCT03607422 (Measure Up 2), and NCT03568318 (AD Up)
Publisher: Medknow
Date: 2019
Publisher: Wiley
Date: 30-12-2014
DOI: 10.1111/AJD.12257
Abstract: Multiple dermatofibromas is a rare entity consisting of more than fifteen lesions. Multiple clustered dermatofibroma is a distinct variant of multiple dermatofibromas and is defined as a well-demarcated plaque composed of in idual dermatofibromas. We report a 16-year-old boy with multiple clustered dermatofibroma in a segmental distribution, which has previously not been reported in the literature.
Publisher: Elsevier BV
Date: 09-2018
Publisher: Wiley
Date: 11-2016
DOI: 10.1111/AJD.12458
Publisher: Wiley
Date: 02-04-2015
DOI: 10.1111/AJD.12337
Publisher: Wiley
Date: 11-11-2019
DOI: 10.1111/AJD.13188
Publisher: Wiley
Date: 29-05-2022
DOI: 10.5694/MJA2.51560
Abstract: Atopic dermatitis (atopic eczema) is the most common inflammatory skin disease and has a significant burden on the quality of life of patients, families and caregivers. Its pathogenesis is a complex interplay between genetics and environment, involving impaired skin barrier function, immune dysregulation primarily involving the Th2 inflammatory pathway, itch, and skin microbiome. Restoration of skin barrier integrity with regular emollients and prompt topical anti-inflammatory therapies are mainstays of treatment. Systemic therapy is considered for moderate to severe disease. New understanding of inflammatory pathways and developments in targeted systemic immunotherapies have significantly advanced atopic dermatitis management. Dupilumab is a safe and effective treatment that is now available in Australia. Other promising agents for atopic dermatitis include Janus kinase, interleukin (IL)-13 and IL-31 inhibitors.
Publisher: Oxford University Press (OUP)
Date: 11-2008
DOI: 10.1111/J.1365-2230.2008.02858.X
Abstract: Background. Epidermolysis bullosa simplex (EBS), the most common subtype of EB, is usually inherited as an autosomal dominant trait caused by mutations in either the keratin 5 (KRT5) or keratin 14 (KRT14) genes. Recessive EBS (R-EBS) is extremely rare. Methods. We present the first Australian patient diagnosed with R-EBS, to our knowledge, and a comprehensive review of genotypes and phenotypes of R-EBS reported cases. Results. The female proband, of Turkish descent with consanguineous parentage, was referred to us at the age of 8 years. Clinically, she had a severe phenotype including generalized blisters, mucosal involvement and EB naevi. Immunofluorescence mapping and electron microscopy were consistent with a diagnosis of EBS. Staining for Keratin 14 (K14) was negative. The basal layer, however, reacted with monoclonal antibodies to keratins 6 (K6) and 16 (K16). Mutation screening from genomic DNA showed that the proband was homozygous for the truncation mutation Y204X in exon 3 of KRT14, and both unaffected parents were heterozygous for a single KRT14 Y204X mutation. The phenotype of our patient is reported in more detail and with longer follow-up than those of others published in the literature. Discussion. The proband’s phenotype was severe as an infant but improved with age, suggesting that an alternative keratin is pairing with K5 in her skin to compensate for the loss of K14 – a novel biological compensatory mechanism. It is interesting that K6 and K16 were expressed, as these are normally positive in hyperproliferative skin disorders.
Publisher: Wiley
Date: 16-10-2017
DOI: 10.1111/PDE.13304
Abstract: Infants with a high-risk distribution of port-wine stains are commonly screened for Sturge-Weber syndrome using brain magnetic resonance imaging. There is no consensus about which port-wine stain phenotypes to screen, optimal timing, screening sensitivity, or whether presymptomatic diagnosis improves neurodevelopmental outcomes. This state-of-the-art review examines the evidence in favor of screening for Sturge-Weber syndrome, based on its effect on neurodevelopmental outcomes, against the risks and limitations of screening magnetic resonance imaging and electroencephalography. A literature search of PubMed/MEDLINE was conducted between January 2005 and May 2017 using key search terms. Relevant articles published in English were reviewed 34 articles meeting the search criteria were analyzed according to the following outcome measures: neurodevelopmental outcome benefit of screening, diagnostic yield, financial costs, procedural risks, and limitations of screening magnetic resonance imaging and electroencephalography. There is no evidence that a presymptomatic Sturge-Weber syndrome diagnosis with magnetic resonance imaging results in better neurodevelopmental outcomes. The utility of electroencephalographic screening is also unestablished. In Sturge-Weber syndrome, neurodevelopmental outcomes depend on prompt recognition of neurologic red flags and early seizure control. Small numbers and a lack of prospective randomized controlled trials limit these findings. For infants with port-wine stain involving skin derived from the frontonasal placode (forehead and hemifacial phenotypes), we recommend early referral to a pediatric neurologist for parental education, counselling, and monitoring for neurologic red flags and seizures and consideration of electroencephalography regardless of whether magnetic resonance imaging is performed or its findings.
Publisher: Oxford University Press (OUP)
Date: 12-2018
DOI: 10.1111/BJD.15747
Publisher: Wiley
Date: 08-05-2013
DOI: 10.1111/AJD.12054
Abstract: We describe a case of previously unreported autoimmune hepatitis and lupus-like syndrome induced by infliximab treatment for chronic plaque psoriasis. The condition resolved after withdrawal of infliximab, with the liver injury having been reversed and minimal periportal fibrosis. In a two-part discussion we review the current literature on the pharmacology of infliximab and provide recommendations for management of infliximab side effects.
Publisher: Elsevier BV
Date: 03-2011
Publisher: Springer Science and Business Media LLC
Date: 25-08-2023
Publisher: BMJ
Date: 03-2019
DOI: 10.1136/BMJOPEN-2018-024594
Abstract: The skin is an important barrier against environmental allergens, but infants have relatively impaired skin barrier function. There is evidence that impaired skin barrier function increases the risk of allergic sensitisation, atopic dermatitis (AD) and food allergy. We hypothesise that regular prophylactic use of emollients, particularly those that are designed to improve skin barrier structure and function, will help prevent these conditions. With the aim of determining if application of a ceramide-dominant emollient two times per day reduces the risk of AD and food allergy, we have commenced a multicentre phase III, outcome assessor blinded, randomised controlled trial of this emollient applied from birth to 6 months. Infants (n=760) with a family history of allergic disease will be recruited from maternity hospitals in Melbourne. The primary outcomes are as follows: the presence of AD, assessed using the UK Working Party criteria, and food allergy using food challenge, in the first 12 months of life as assessed by a blinded study outcome assessor. Secondary outcomes are as follows: food sensitisation (skin prick test), skin barrier function, AD severity, the presence of new onset AD after treatment cessation (between 6 and 12 months) and the presence of parent reported AD/eczema. Recruitment commenced in March 2018. The PEBBLES Study is approved by the Human Research Ethics Committees of the Royal Children’s Hospital (RCH) (#37090A) and the Mercy Hospital for Women (2018–008). Parents or guardians will provide written informed consent. Outcomes will be disseminated through peer-reviewed publications and presented at scientific conferences. ACTRN12617001380381 and NCT03667651 .
Publisher: Oxford University Press (OUP)
Date: 03-2017
DOI: 10.1111/BJD.15271
Abstract: Atopic dermatitis (AD) assessment is more difficult in patients with skin of colour (SOC). To compare the reliability of commonly used outcome measures for assessing AD in patients with SOC and to evaluate a novel greyscale in this population. Twenty-five patients with AD each attended a 1-day scoring exercise based in either Sydney or Melbourne, Australia. Each patient was scored by the same five physicians using the Eczema Area and Severity Index (EASI), objective Scoring Atopic Dermatitis (oSCORAD), Investigator's Global Assessment (IGA) and a novel greyscale. Patients also completed the Patient-Oriented Eczema Measure and quality-of-life measures. A Mexameter was used to measure baseline melanin indices. Ten random patients were rescored to test intrarater reliability. We included 11 light-skinned patients (melanin index ≤ 200) and 14 patients with SOC (melanin index > 200) in the cohort. The inter-rater intraclass correlation coefficients (ICCs) were EASI 0·83 [95% confidence interval (CI) 0·66-0·94] for light skin and 0·77 (95% CI 0·60-0·91) for SOC oSCORAD 0·68 (95% CI 0·44-0·88) for light skin and 0·74 (95% CI 0·54-0·89) for SOC and IGA 0·80 (95% CI 0·62-0·93) for light skin and 0·70 (95% CI 0·49-0·87) for SOC. The greyscale had an ICC of 0·78 (95% CI 0·60-0·91) when replacing the EASI's erythema scale for patients with SOC. All scores showed excellent intrarater reliability for all skin types. Erythema component analysis showed that erythema did not contribute to variability. EASI showed excellent reliability for patients of all skin colours, and is recommended as the optimal core measure for patients with all skin colours.
Publisher: Elsevier BV
Date: 02-2021
Publisher: Wiley
Date: 15-08-2010
Publisher: Medical Journals Sweden AB
Date: 2017
Abstract: Although wool is commonly believed to cause irritant (non-immune) and hypersensitivity (immune) cutaneous reactions, the evidence basis for this belief and its validity for modern garments have not been critically examined. Publications from the last 100 years, using MEDLINE and Google Scholar, were analysed for evidence that wool causes cutaneous reactions, both immune-mediated (atopic dermatitis exacerbation, contact urticaria, allergic contact dermatitis) and non-immune-mediated (irritant contact dermatitis, itch). Secondary aims of this paper were to examine evidence that lanolin and textile-processing additives (formaldehyde, chromium) cause cutaneous reactions in the context of modern wool-processing techniques. Current evidence does not suggest that wool-fibre is a cutaneous allergen. Furthermore, contact allergy from lanolin, chromium and formaldehyde is highly unlikely with modern wool garments. Cutaneous irritation from wool relates to high fibre diameters (≥ 30-32 µm). Superfine and ultrafine Merino wool do not activate sufficient c-fibres to cause itch, are well tolerated and may benefit eczema management.
Publisher: Elsevier BV
Date: 02-2018
DOI: 10.1016/J.ANAI.2017.11.023
Abstract: Allergic diseases have increased dramatically in the developed world during the past few decades, yet the understanding of risk factors and effective prevention approaches remain limited. In this review, we summarize the evidence supporting the hypothesis that skin-barrier impairment and early-life atopic dermatitis (AD) could play a causal role in the development of sensitization and subsequent food allergies and allergic airways disease (allergic asthma and rhinitis). We further discuss the potential to target the skin barrier as a means to lower the incidence of allergic disease. Review of published literature. Narrative. There is a strong link between AD and sensitization, food allergy, asthma, and allergic rhinitis, particularly AD that is severe and commences in the first 6 months of life. There also is emerging evidence that regular use of prophylactic emollients can significantly decrease the expression of AD, at least while treatment continues. Studies are exploring whether decreased AD expression might modulate the allergic response at a more fundamental level and potentially alter the association between early-life AD and subsequent development of food allergy and allergic airways disease. Although at this point there is only indirect evidence that early-life emollient use might prevent AD and food allergy, early studies are encouraging. The results of high-quality prevention trials that are in progress are eagerly anticipated. If found to be effective, then neonatal emollient use could be a simple public health measure to lower the incidence of AD, food allergies, and allergic airways disease in future generations.
Publisher: Wiley
Date: 03-2017
DOI: 10.1111/AJD.12600
Abstract: Although most infantile haemangiomas do not require treatment due to a natural history of spontaneous involution, some require early intervention. The Australasian Vascular Anomalies Network and the Australasian Paediatric Dermatology Network have developed a consensus statement for the treatment of infantile haemangiomas with oral propranolol. Infants with haemangiomas that are life threatening, at risk of ulceration, or at risk of causing a significant functional impairment, psychological impact or physical deformity should be treated early with oral propranolol. Oral propranolol is safe and effective and in most healthy infants oral propranolol can be started in an outpatient setting.
Publisher: Wiley
Date: 09-2011
Publisher: Oxford University Press (OUP)
Date: 07-04-2021
DOI: 10.1111/BJD.19874
Publisher: Elsevier BV
Date: 10-2007
DOI: 10.1016/J.JPEDS.2007.04.070
Abstract: Because community-based studies, which report IgE food sensitization (IgE-FS) in more than 80% of infants with moderate atopic eczema, may be influenced by referral bias, we assessed the prevalence of IgE-FS in a cohort of infants with moderate atopic eczema attending a dermatology department clinic. Consecutive infants (n = 51, 39 males median age, 34 weeks range, 20 to 51 weeks) with moderate atopic eczema referred to a university-affiliated dermatology department were studied prospectively. Clinical history and eczema severity were documented. IgE-FS was assessed by the skin prick test (SPT n = 51) and food-specific serum IgE antibodies (CAP-FEIA test n = 41). IgE-FS was diagnosed if the SPT or CAP-FEIA level exceeded the >95% predictive reference cutoff for positive food challenges. Based on SPT, 44 of 51 infants (86% 95% confidence interval [CI] = 74% to 94%) had IgE-FS (cow's milk, 16% egg, 73% peanut, 51%). Using age-specific 95%-predictive cutoff values, CAP-FEIA identified 34 of 41 infants (83% 95% CI = 68% to 93%) with IgE-FS (cow's milk, 23% egg, 80%). Forty-six (90%) infants had IgE-FS to at least 1 food item by either SPT or CAP-FEIA. Atopic eczema was found to be closely associated with IgE-FS in infants attending a dermatology department.
Publisher: Wiley
Date: 03-2016
DOI: 10.1111/PDE.12826
Abstract: Discoid lupus erythematosus (DLE) is known to be associated with chronic granulomatous disease (CGD), but most DLE occurs in female carriers of X-linked CGD, with few reports of these lesions in CGD-affected in iduals--this observation is unexplained. We describe two cases of DLE-like lesions in boys with CGD: one boy with partial neutrophil function and another whose lesions were related to voriconazole use. Reviewing other previously reported cases, we conclude that the risk of developing DLE-like lesions appears to be greater primarily in two subsets of the population with CGD: those with partial neutrophil function and those with near-absent neutrophil function in whom there is a second trigger. In light of recent literature on the role of neutrophils in lupus pathogenesis, we propose that pathogenesis of DLE in CGD may be related to NETosis, neutrophil dysfunction and a deficiency of reactive oxygen species, which medications such as voriconazole also influence.
Publisher: Wiley
Date: 09-2014
DOI: 10.1111/AJD.12201
Abstract: We report a case of a 12-year-old girl with severe allergic contact dermatitis following neurosurgery secondary to topical use of isopropyl alcohol swabs. Alcohol swabs should not be overlooked as potential allergens. In our case, it was initially assumed that the cause of her reaction was either tapes or topical local anaesthetic.
Publisher: Springer Science and Business Media LLC
Date: 05-07-2019
DOI: 10.1007/S40257-019-00462-6
Abstract: Although artificial intelligence has been available for some time, it has garnered significant interest recently and has been popularized by major companies with its applications in image identification, speech recognition and problem solving. Artificial intelligence is now being increasingly studied for its potential uses in medicine. A sound understanding of the concepts of this emerging field is essential for the dermatologist as dermatology has abundant medical data and images that can be used to train artificial intelligence for patient care. There are already a number of artificial intelligence studies focusing on skin disorders such as skin cancer, psoriasis, atopic dermatitis and onychomycosis. This article aims to present a basic introduction to the concepts of artificial intelligence as well as present an overview of the current research into artificial intelligence in dermatology, examining both its current applications and its future potential.
Publisher: Wiley
Date: 06-05-2019
DOI: 10.1111/JDV.15608
Publisher: MDPI AG
Date: 06-2023
DOI: 10.3390/JCM12113812
Abstract: Atopic dermatitis (AD) is a common, chronic, inflammatory skin disease affecting Australians of all ages, races, ethnicities, and social classes. Significant physical, psychosocial, and financial burdens to both in iduals and Australian communities have been demonstrated. This narrative review highlights knowledge gaps for AD in Australian skin of colour. We searched PubMed, Wiley Online Library, and Cochrane Library databases for review articles, systematic reviews, and cross-sectional and observational studies relating to AD in Australia for skin of colour and for different ethnicities. Statistical data from the Australian Institute of Health and Welfare and the Australian Bureau of Statistics was collected. In recent years, there has been substantially increased awareness of and research into skin infections, such as scabies and impetigo, among various Australian subpopulations. Many such infections disproportionately affect First Nations Peoples. However, data for AD itself in these groups are limited. There is also little written regarding AD in recent, racially erse immigrants with skin of colour. Areas for future research include AD epidemiology and AD phenotypes for First Nations Peoples and AD trajectories for non-Caucasian immigrants. We also note the evident disparity in both the level of understanding and the management standards of AD between urban and remote communities in Australia. This discrepancy relates to a relative lack of healthcare resources in marginalised communities. First Nations Peoples in particular experience socioeconomic disadvantage, have worse health outcomes, and experience healthcare inequality in Australia. Barriers to effective AD management must be identified and responsibly addressed for socioeconomically disadvantaged and remote-living communities to achieve healthcare equity.
Publisher: Wiley
Date: 30-09-2005
DOI: 10.1111/J.1440-0960.2005.00195.X
Abstract: A young girl with PHACE syndrome presented with a posterior fossa malformation, a segmental telangiectatic right facial haemangioma, a novel aortic arch anomaly, a congenital right fourth cranial nerve palsy (not previously described in this syndrome) and Horner's syndrome. Hydrocephalus was limited to the intrauterine period and detection of the cardiovascular anomalies was a direct result of recognition of this syndrome. She has received laser treatment for the haemangioma and is awaiting surgical correction of her cranial nerve palsy.
Publisher: Mary Ann Liebert Inc
Date: 02-2019
Publisher: Wiley
Date: 18-07-2018
DOI: 10.1111/PDE.13598
Abstract: There is a lack of consensus regarding how best to screen children with facial port-wine stains for Sturge-Weber syndrome. Many favor brain magnetic resonance imaging, and adjunctive electroencephalography is increasingly used. However, the sensitivity, specificity, and negative and positive predictive value of magnetic resonance imaging and electroencephalography and whether screening improves seizure recognition is unclear. A retrospective review of children with high-risk port-wine stains presenting consecutively to the outpatient laser clinic of a tertiary pediatric hospital between December 2015 and November 2016 was undertaken. Primary outcome measures were yield, accuracy, age of and protocols for screening magnetic resonance imaging and electroencephalography, type of and age at presenting seizure, and percentage referred to neurology. Of 126 patients with facial port-wine stains, 25.4% (32/126) were at high risk of Sturge-Weber syndrome (hemifacial, median, and forehead PWS phenotypes) 43.7% of these (14/32) underwent screening magnetic resonance imaging. Sturge-Weber syndrome was detected in 7.1% (1/14). Magnetic resonance imaging had false-negative results in 23.1% (3/13) of those screened. Screening magnetic resonance imaging had sensitivity of 25%, specificity of 100%, positive predictive value of 100%, and negative predictive value of 76.9% for the detection of Sturge-Weber syndrome (hemifacial, median and forehead PWS phenotypes). Only one-third of those with false-negative magnetic resonance imaging were referred to neurology. Mean age of first seizure in those with false-negative screening magnetic resonance imaging was 28 months, vs 14 months in those not screened. Abnormal electroencephalographic signs were detected in the two infants who underwent presymptomatic electroencephalography. Findings from this small cohort of in iduals with port-wine stains that put them at high risk of Sturge-Weber syndrome suggest that children with positive screening magnetic resonance imaging will almost certainly develop Sturge-Weber syndrome but that negative screening magnetic resonance imaging cannot exclude Sturge-Weber syndrome (in up to 23.1% of cases). False-negative magnetic resonance imaging may delay seizure recognition. Seizure education, monitoring, and consideration of adjunctive electroencephalography are important irrespective of magnetic resonance imaging findings.
Publisher: Wiley
Date: 11-2019
DOI: 10.1111/JDV.15972
Publisher: Elsevier BV
Date: 10-2017
DOI: 10.1016/J.JAAD.2017.06.042
Abstract: Although most patients with atopic dermatitis (AD) are effectively managed with topical medication, a significant minority require systemic therapy. Guidelines for decision making about advancement to systemic therapy are lacking. To guide those considering use of systemic therapy in AD and provide a framework for evaluation before making this therapeutic decision with the patient. A subgroup of the International Eczema Council determined aspects to consider before prescribing systemic therapy. Topics were assigned to expert reviewers who performed a topic-specific literature review, referred to guidelines when available, and provided interpretation and expert opinion. We recommend a systematic and holistic approach to assess patients with severe signs and symptoms of AD and impact on quality of life before systemic therapy. Steps taken before commencing systemic therapy include considering alternate or concomitant diagnoses, avoiding trigger factors, optimizing topical therapy, ensuring adequate patient/caregiver education, treating coexistent infection, assessing the impact on quality of life, and considering phototherapy. Our work is a consensus statement, not a systematic review. The decision to start systemic medication should include assessment of severity and quality of life while considering the in idual's general health status, psychologic needs, and personal attitudes toward systemic therapies.
Publisher: BMJ
Date: 02-1997
DOI: 10.1136/ADC.76.2.159
Abstract: To evaluate the impact of childhood atopic eczema on families and assess the personal financial cost of its management. Cross sectional survey. Paediatric dermatology and paediatric diabetology outpatient clinics. Parents of 48 randomly selected children with atopic eczema and 46 with insulin dependent diabetes mellitus. The impact on family score, the reported cost of relevant medical treatments, medical consultations, relevant hospitalisation, and income loss. Families of children with moderate or severe atopic eczema had a significantly higher impact on family score than families of diabetic children. A conservative estimate of the annual personal financial cost of managing mild, moderate, and severe eczema was Aus$330, 818, and 1255, respectively. The financial cost to the community for the management of atopic eczema in the study groups was greater. The personal financial cost of managing eczema was greater than for asthma. Childhood atopic eczema has a profound impact on the social, personal, emotional, and financial perspectives of families.
Publisher: BMJ
Date: 31-08-2012
Publisher: Springer Science and Business Media LLC
Date: 04-04-2012
Publisher: Informa UK Limited
Date: 12-06-2012
DOI: 10.3111/13696998.2012.697085
Abstract: To perform an economic evaluation of a specific brand of partially hydrolyzed infant formula (PHF-W) in the prevention of atopic dermatitis (AD) among Australian infants. A cost-effectiveness analysis was undertaken from the perspectives of the Department of Health and Aging (DHA), of the family of the affected subject and of society as a whole in Australia, based on a decision-analytic model following a hypothetical representative cohort of Australian newborns who are not exclusively breastfed and who have a familial history of allergic disease (i.e., are deemed 'at risk'). Costs, consequences, and incremental cost-effectiveness ratios (ICER) were calculated for PHF-W vs standard cow's milk based infant formula (SF), and, in a secondary analysis, vs extensively hydrolyzed infant formula (EHF-Whey), when the latter was used for the prevention of AD. From a representative starting cohort of 87,724 'at risk' newborns in Australia in 2009, the expected ICERs for PHF-W vs SF were AU$496 from the perspective of the DHA and savings of AUD1739 and AU$1243 from the family and societal perspectives, respectively. When compared to EHF-Whey, PHF-W was associated with savings for the cohort of AU$5,183,474 and AU$6,736,513 from the DHA and societal perspectives. The generalizability and transferability of results to other settings, populations, or brands of infant formula should be made with caution. Whenever possible, a conservative approach directing bias against PHF-W rather than its comparators was applied in the base case analysis. Assumptions were verified in one-way and probabilistic sensitivity analyses, which confirmed the robustness of the model. PHF-W appears to be cost-effective when compared to SF from the DHA perspective, dominant over SF from the other perspectives, and dominant over EHF-Whey from all perspectives, in the prevention of AD in 'at risk' infants not exclusively breastfed, in Australia.
Publisher: Wiley
Date: 06-03-2015
DOI: 10.1111/AJD.12313
Abstract: Atopic eczema is a chronic inflammatory disease affecting about 30% of Australian and New Zealand children. Severe eczema costs over AUD 6000/year per child in direct medical, hospital and treatment costs as well as time off work for caregivers and untold distress for the family unit. In addition, it has a negative impact on a child's sleep, education, development and self-esteem. The treatment of atopic eczema is complex and multifaceted but a core component of therapy is to manage the inflammation with topical corticosteroids (TCS). Despite this, TCS are often underutilised by many parents due to corticosteroid phobia and unfounded concerns about their adverse effects. This has led to extended and unnecessary exacerbations of eczema for children. Contrary to popular perceptions, (TCS) use in paediatric eczema does not cause atrophy, hypopigmentation, hypertrichosis, osteoporosis, purpura or telangiectasia when used appropriately as per guidelines. In rare cases, prolonged and excessive use of potent TCS has contributed to striae, short-term hypothalamic-pituitary-adrenal axis alteration and ophthalmological disease. TCS use can also exacerbate periorificial rosacea. TCS are very effective treatments for eczema. When they are used to treat active eczema and stopped once the active inflammation has resolved, adverse effects are minimal. TCS should be the cornerstone treatment of atopic eczema in children.
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for John Su.