Store-and-forward (asynchronous) doctor-to-dermatologist non-skin cancer specific teledermatology services in Australia: A scoping review.

Store-and-forward teledermatology (SAFT) has become increasingly popular as a means to increase access to specialist care and address healthcare disparities such as those experienced by rural communities. A contemporary systematic overview of the Australian SAFT services and outcomes for all dermatological conditions is missing. This scoping review provides an overview of Australian SAFT models. Twelve studies were identified through web databases, grey literature sites and reference lists of eligible articles. Eligibility criteria included studies evaluating doctor-to-dermatologist Australian SAFT services provided to Australians for all skin conditions but excluded the studies that solely focused on skin cancers. Data on study design, setting, population, SAFT model, referral characteristics, patient, and general practitioner perspectives, diagnostic concordance, and measured outcomes such as follow up, investigation and waiting time were extracted. Quality of the included studies was assessed using CASP tools. Synthesis reveals that SAFT can be used for patients with any dermatological condition, provides more accurate diagnostics compared to cases without dermatologist input, may reduce waiting times for dermatological expertise, and users generally had positive experiences with SAFT. Although results are positive, this review reveals the heterogenous nature of the literature on SAFT in Australia and a need to establish a uniform approach to assessing the outcomes and impacts of such services.

Recurrent cutaneous hyalohyphomycosis secondary to Purpureocillium lilacinum in an immunocompetent individual.

Purpureocillium lilacinum, previously classified as Paecilomyces lilacinus, is a ubiquitous hyaline hyphomycete considered to be an emerging opportunistic human pathogen that is resistant to traditional antifungal agents. This case report describes what is to our knowledge the only published case of P. lilacinum recrudescence in an immunocompetent host despite initial best-practice treatment with 10 weeks of voriconazole and surgical excision.

The Role of Topical Timolol in the Treatment of Infantile Hemangiomas: A Systematic Review and Meta-analysis.

To date the efficacy and safety of topical timolol in the treatment of infantile hemangioma has not been reviewed and analysed systematically. We collated all published data on the efficacy and safety of topical timolol in the treatment of infantile hemangioma. A total of 31 studies with 691 patients were included. The fixed effects pooled estimate of the response rate defined as any improvement from baseline of infantile hemangioma after treatment with topical timolol was significant (RR = 8.96; 95% CI 5.07-15.47; heterogeneity test p = 0.99), and the treatment was overall well tolerated. However, the quality of evidence was low to moderate. Topical timolol is an effective treatment for small infantile hemangioma, with no significant adverse effects noted. However, there is still a need for adequately powered randomised controlled trials.

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.

BACKGROUND: There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an optimal clinical outcome when started early in life. OBJECTIVE: To evaluate the performance of a multiplex-tandem mass spectrometry (MS/MS) enzymatic activity assay of 6 lysosomal enzymes in a NBS laboratory for the identification of newborns at risk for developing Pompe, Mucopolysaccharidosis-I (MPS-I), Fabry, Gaucher, Niemann Pick-A/B, and Krabbe diseases. METHODS AND RESULTS: Enzyme activities (acid α-glucosidase (GAA), galactocerebrosidase (GALC), glucocerebrosidase (GBA), α-galactosidase A (GLA), α-iduronidase (IDUA) and sphingomyeline phosphodiesterase-1 (SMPD-1)) were measured on ~43,000 de-identified dried blood spot (DBS) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk. The 6-plex assay was efficiently performed in the Washington state NBS laboratory by a single laboratory technician at the bench using a single MS/MS instrument. The number of screen positive samples per 100,000 newborns were as follows: GAA (4.5), IDUA (13.6), GLA (18.2), SMPD1 (11.4), GBA (6.8), and GALC (25.0). DISCUSSION: A 6-plex MS/MS assay for 6 lysosomal enzymes can be successfully performed in a NBS laboratory. The analytical ranges (enzyme-dependent assay response for the quality control HIGH sample divided by that for all enzyme-independent processes) for the 6-enzymes with the MS/MS is 5- to 15-fold higher than comparable fluorimetric assays using 4-methylumbelliferyl substrates. The rate of screen positive detection is consistently lower for the MS/MS assay compared to the fluorimetric assay using a digital microfluidics platform.

Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene.

Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is a rare autosomal recessive genodermatosis resulting from mutations in the PKP1 gene, encoding the desmosomal plaque protein plakophilin-1 (PKP1). Mutations in PKP1 may manifest with skin fragility and erosions, patches of scale crust on the trunk and limbs, peri-oral cracking and inflammation, hypotrichosis, palmoplantar keratoderma with painful fissuring and other somewhat variable ectodermal anomalies. Ten cases of the syndrome have been reported. We report a further case of this desmosomal genodermatosis. A 14-month old child, born to consanguineous parents, presented with a history of neonatal bullae and subsequent development of dystrophic nails, sparse eyelashes and eyebrows, woolly scalp hair, abnormal dental development and a desquamating erythematous rash at sites of trauma. A clinical diagnosis of ED-SFS was supported by skin biopsy findings of suprabasal intraepidermal clefting and a loss of immunoreactivity for PKP1. Sequencing of genomic DNA revealed a homozygous 5 base pair deletion in exon 5 of the PKP1 gene, designated c.897del5 (CAACC). This new mutation creates a frameshift, leading to a downstream premature termination codon, p.Pro299fsX61. This case highlights the clinicopathological consequences of inherited mutations in the PKP1 gene and illustrates the key role of desmosomes in skin biology.

Erosive mucosal lichen planus and secondary epiphora responding to systemic cyclosporin A treatment.

Erosive mucosal lichen planus (LP) is a well-established variant of LP characterized by the formation of ulcerative lesions predominantly involving the oral and genital mucosae. Less commonly, this condition may involve oesophageal and/or ocular mucosal surfaces, and case reports within the ophthalmology literature have recently confirmed the potential for this condition to affect the nasolacrimal ducts. We report the case of a woman with severe cicatrizing mucosal LP and ocular symptoms secondary to presumed nasolacrimal duct involvement. We also report the potential for this newly appreciated manifestation of LP to respond to systemic cyclosporin A.

TREatment of ATopic eczema (TREAT) Registry Taskforce: protocol for an international Delphi exercise to identify a core set of domains and domain items for national atopic eczema registries.

BACKGROUND: Patients with moderate-to-severe atopic eczema (AE) often require photo- or systemic immunomodulatory therapies to induce disease remission and maintain long-term control. The current evidence to guide clinical management is small, despite the frequent and often off-label use of these treatments. Registries of patients on photo- and systemic immunomodulatory therapies could fill this gap, and the collection of a core set concerning these therapies in AE will allow direct comparisons across registries as well as data sharing and pooling. Using an eDelphi approach, the international TREatment of ATopic eczema (TREAT) Registry Taskforce aims to seek consensus between key stakeholders internationally on a core set of domains and domain items for AE patient registries with a research focus that collect data of children and adults on photo- and systemic immunomodulatory therapies. METHODS/DESIGN: Participants from six stakeholder groups will be invited: doctors, nurses, non-clinical researchers, patients, as well as industry and regulatory body representatives. The eDelphi will comprise three sequential online rounds, requesting participants to rate the importance of each proposed domain and domain items. Participants will be able to add domains and domain items to the proposed list in round 1. A final consensus meeting will be held with representatives of each stakeholder group. DISCUSSION: Identifying a uniform core set of domains and domain items to be captured by AE patient registries will increase the utility of individual registries, and provide greater insight into the effectiveness, safety and cost-effectiveness of photo- and systemic immunomodulatory therapies to guide clinical management across dermatology centres and country borders. TRIAL REGISTRATION: Not applicable. This eDelphi study was registered in the Core Outcome Measures for Effectiveness Trials (COMET) database.

Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry.

In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, Niemann-Pick-A/B, Gaucher, and Krabbe, (Elliott, et al., 2016) [1]. We also provide the mass spectrometry peak areas for the product and internal standard ions typically observed with a dried blood spot punch from a random newborn, and we provide the daily variation of the daily mean activities for all 6 enzymes.