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Solar urticaria (SU) is a rare form of urticaria with a pathogenesis that is poorly understood. It affects all skin types, can be difficult to diagnose, and is challenging to manage effectively. We conducted a retrospective review of patients with SU in our institution. A total of 83 patients (56 females) were identified as having SU. The mean age was 32 years (7-74) at first development of symptoms/signs of SU. Pruritus was the most common symptom reported (79%). Of the 60 patients who underwent monochromator testing at least once, 35 had SU confirmed with most reacting to visible light and UVA, or to UVA alone. Antihistamines and sun avoidance remain the mainstay treatment for SU but other treatments, including omalizumab, are of potential interest in treating patients with recalcitrant SU. The characterisation of this large case series of patients may help dermatologists recognise and manage this rare disorder appropriately.

Background Porphyria Cutanea Tarda (PCT) is a metabolic disorder resulting from a deficiency of hepatic enzyme uroporphyrinogen decarboxylase (UROD). UROD deficiency results in the accumulation of porphyrins, which are phototoxic and hepatotoxic. PCT patients are at increased risk of developing hepatocellular carcinoma. Aims We aim to describe a series of PCT patients presenting to a tertiary center over 35-year period from the 1980s to December 2015 and review current literature to date on PCT, with a focus on PCT management. Methods A search of the center’s dermatology department and biochemistry database were performed to identify patients diagnosed with PCT. Demographic data, underlying risk factors and management details were obtained. Statistical tests were performed to identify any possible association between the variables of interest. Results 34 patients were included in this study. Mean age of diagnosis was 48 years and there was no gender difference. 12 patients had Hepatitis C infection, 25 had excessive alcohol consumption, 13 had hereditary haemochromatosis. Eight patients developed oestrogen-associated or hormonal replacement therapy (HRT) induced PCT. 33 patients (97 per cent) responded to venesection. Six (18 per cent) patients were prescribed hydroxychloroquine, either alone or concurrently with venesection. They all achieved remission. Average duration of follow up is 13 years. One patient developed hepatocellular carcinoma (HCC). Conclusion Our study has reinforced venesection as an effective treatment for PCT. Low dose hydroxychloroquine can be used in patients where venesection is contraindicated or not tolerated. General measures such as alcohol abstinence, visible violet light protection and trauma avoidance are recommended.

A 35-year-old woman presented with skin fragility and photosensitivity with blisters affecting her face and hands. Other symptoms included intermittent headache, fatigue, abdominal pain and nausea. Porphyrin studies were markedly raised, with features consistent with hereditary coproporphyria (HCP). Despite strict precautions, symptoms remained significantly problematic. Regular haem arginate infusions of 3 mg/kg per day over 4 days on a monthly basis were commenced and resulted in significant improvement of the patient's symptoms and a reduction in urinary porphobilinogen. Although haem arginate infusion is known as a treatment for severe acute attacks of HCP, the effectiveness of regular infusions as maintenance therapy has not been established. This is the first report of effective symptom control correlating with normalization of biochemical markers in a patient receiving regular haem arginate infusions for the treatment of HCP.

A 35-year-old woman presented with skin fragility and photosensitivity with blisters affecting her face and hands. Other symptoms included intermittent headache, fatigue, abdominal pain and nausea. Porphyrin studies were markedly raised, with features consistent with hereditary coproporphyria (HCP). Despite strict precautions, symptoms remained significantly problematic. Regular haem arginate infusions of 3 mg/kg per day over 4 days on a monthly basis were commenced and resulted in significant improvement of the patient's symptoms and a reduction in urinary porphobilinogen. Although haem arginate infusion is known as a treatment for severe acute attacks of HCP, the effectiveness of regular infusions as maintenance therapy has not been established. This is the first report of effective symptom control correlating with normalization of biochemical markers in a patient receiving regular haem arginate infusions for the treatment of HCP.

A 22-year-old male with recessive dystrophic epidermolysis bullosa with a large superficial and nodular basal cell carcinoma on his right forehead was treated with photodynamic therapy. The treatment was well tolerated, and the site healed well. Patients with epidermolysis bullosa are at increased risk of developing skin cancers, particularly squamous cell carcinomas. However, basal cell carcinomas are rare in recessive dystrophic epidermolysis bullosa. As patients with epidermolysis bullosa have recurrent blistering and poor wound healing, surgery may not be the optimal choice in treating skin cancers. We present this case to highlight that photodynamic therapy may be a helpful and safe technique in the treatment of superficial skin cancers in patients with epidermolysis bullosa, as an alternative to more radical methods.

Summary Background The receptor tyrosine kinase c-KIT plays a key role in normal mast cell development. Point mutations in c-KIT have been associated with sporadic or familial mastocytosis. Objectives Two unrelated pairs of apparently identical twins affected by cutaneous mastocytosis attending the Mastocytosis Clinic at the Royal Children’s Hospital, Melbourne, provided an opportunity to assess the possible contribution of c-KIT germline mutations or polymorphisms in this disease. Methods Tissue biopsy, blood and/or buccal swab specimens were collected from 10 children with mastocytosis. To detect germline mutations/polymorphisms in c-KIT, we studied all coding exons by denaturing high pressure liquid chromatography. Exons showing mismatches were examined by direct sequencing. The influence of the substitution identified was further examined by expressing the variant form of c-KIT in factor-dependent FDC-P1 cells. Results In both pairs of twins, a heterozygous ATG to CTG transition in codon 541 was observed, resulting in the substitution of a methionine residue in the transmembrane domain by leucine (M541L). In each case, one parent was also heterozygous for this allele. Expression of M541L KIT in FDC-P1 cells enabled them to grow in human KIT ligand (stem cell factor, SCF) but did not confer factor independence. Compared with cells expressing wild-type KIT at a similar level, M541L KIT-expressing cells displayed enhanced growth at low levels of SCF, and heightened sensitivity to the KIT inhibitor, imatinib mesylate. Conclusions The data suggest that the single nucleotide polymorphism resulting in the substitution M541L may predispose to paediatric mastocytosis.

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.

Parents of 30 children with clinically diagnosed molluscum contagiosum were surveyed to assess their perception of the condition, its treatment, its impact on their everyday lives, and on the children themselves. Among parents, 82% reported that molluscum contagiosum concerned them moderately or greatly. Concerns focused on physical issues associated with the infection, such as scarring, itching, chance of spread to peers, pain, and the effects of treatments. Quality of life was not affected. Molluscum contagiosum was most common among school-age children. Eighteen of 29 respondents swam in public pools, a common activity in children of this age. All epidemiologic studies of molluscum contagiosum in otherwise healthy individuals, published since 1966, have been critically reviewed herein. The review confirms an association between swimming pool use and molluscum contagiosum. Age, living in close proximity, skin-to-skin contact, sharing of fomites, and residence in tropical climates were also associated with higher rates of infection while sex, seasonality, and hygiene showed no such association.

Eczema is a common, and at times challenging, condition to manage. It often involves an irritable child, concerned parents and numerous return visits. A variety of mainstream and alternative treatments can confuse both the clinician and patient.This article aims to refresh readers by reviewing evidenced based treatment protocols, and exploring some of the new and evolving treatments in eczema.Managing eczema is a multifocal task involving a variety of medicinal and practical approaches. Education of parents and carers is critical. Having a clear plan that can be adapted to each patient's needs is helpful for all involved, with management focussing on control rather than cure. Simple emollients and preventive measures are used to reduce heat, dryness and prickling of the skin. Topical corticosteroids remain the gold standard in the treatment of the inflammation of eczema. However, combining topical steroids with the new calcineurin inhibitors, wet dressings and behavioural modification should increase the time interval between exacerbations.

The objective of this study was to assess the efficacy and tolerability of combination therapy for molluscum contagiosum (MC) with topical cantharidin and imiquimod 5%. A prospective case series of 16 paediatric patients with a mean age of 4.8 years had cantharidin applied to lesions by a dermatologist, followed by home treatment with imiquimod 5% cream nightly for an average of 5 weeks. This regimen resulted in >90% of lesions clearing in 12 patients, with half of these being totally clear. Two patients had 80-90% of lesions resolve. Two patients had 30-50% clearance of lesions at the end of the treatment period. One patient found the cantharidin reaction too strong. The mean number of imiquimod 250 mg sachets used was 4.25. In conclusion, this study suggests that combination therapy using cantharidin and imiquimod for treatment of MC in children is effective and well tolerated.