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.

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.