Epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa in New Zealand.

OBJECTIVE: To establish the epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa (EB) in New Zealand (NZ). METHODS: 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. RESULTS: 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 Maori, 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. CONCLUSION: 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.

Keratin-based products for effective wound care management in superficial and partial thickness burns injuries.

This n=40 cohort study on superficial and partial thickness burns compares novel keratin-based products with the standard products used at our facility. The keratin products are found to facilitate healing with minimal scarring, be well tolerated with minimal pain and itch, be easy to use for the health professional and be cost effective for the health care provider. For these reasons they are being adopted into use at our facility.

Keratin gel improves poor scarring following median sternotomy.

BACKGROUND: Linear hypertrophic scarring is a common surgical problem that can be difficult to manage. This article evaluates median sternotomy wounds that have often been reported to scar poorly resulting in hypertrophic scar formation. METHODS: This study is a single-blinded, open-labelled pilot study of 20 patients using keratin gel as the intervention and aqueous cream as the control, which are each applied to a different half of the wound daily over 6 months. We use the Patient and Observer Scar Assessment Scale (POSAS) and the Manchester Scar Score (MSS) to assess the scarring. RESULTS: At the 6-month assessment the MSS, patient-POSAS and observer-POSAS were 12.00, 16.70 and 15.00 in the treatment half and 12.58, 17.85 and 16.55 in the control half respectively. Overall, we found that there was a decrease in all score scales after 6 months (P = 0.005). Furthermore, in the subset of patients with poor scarring, decreases in the MSS, patient-POSAS and observer-POSAS were statistically significant (P = 0.025, <0.01 and 0.01) with scores of 12.22, 17.33 and 15.33 in the treatment half and 14.22, 23.67 and 22.33 in the control half respectively. CONCLUSION: In patients who scar more poorly than average, there were significant improvements in scarring. This demonstrates a simple, well-tolerated intervention that reduces problematic scarring following surgery.

Use of a keratin-based hydrogel in the management of recessive dystrophic epidermolysis bullosa.

A new keratin-based hydrogel wound dressing was applied to the neck of a patient who was suffering from recessive dystrophic epidermolysis bullosa. A significant improvement was observed in the robustness of skin in this area: reduced propensity to blister and improved healing of blisters. The improvement allowed the cessation of use of secondary dressings for this area. The factors gave a significant improvement in quality of life for the patient.

Use of a keratin-based wound dressing in the management of wounds in a patient with recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa is a rare, autosomal recessive blistering condition. The authors successfully treated a patient with a novel keratin-based dressing. Starting at 11 months, 1 hand and 1 foot of the patient was treated, and significant improvement was observed. Thereafter, keratin treatment was applied to both hands and feet.