Late-onset pretibial recessive dystrophic epidermolysis bullosa.

Pretibial epidermolysis bullosa (EB) is a rare form of localized dystrophic EB, characterized by recurrent blistering and scarring plaques occurring predominantly in the pretibial area. In most cases, nail dystrophy, especially of the toenails, is also present. Often there are no clinical abnormalities at birth, and the disorder may only appear after several years. We report a patient who developed symptoms in his fifth decade. Genetic testing identified compound heterozygosity for two pathogenic mutations in the COL7A1 gene. This case highlights a rare variant of mechanobullous disease, and stresses the importance of molecular screening in establishing a correct diagnosis. Precisely why the disorder specifically localizes to the shins or why it may only become apparent in later life is not known.

Dermatological surgery: a comparison of activity and outcomes in primary and secondary care.

BACKGROUND: Dermatological surgery is carried out by a variety of practitioners in primary and secondary care. OBJECTIVES: To explore the activity and histopathological outcomes among different groups of dermatological surgeons dealing with skin cancers. METHODS: Reports for all new skin tumour specimens processed by our histopathology department over a continuous 3-month period were reviewed retrospectively. RESULTS: One thousand, one hundred and eleven new skin tumour specimens were identified. General practitioners (GPs) were least accurate in clinical diagnosis, with 42.8% (59/138) of their request forms including the eventual histological diagnosis, compared with 69.5% (328/472) for dermatologists (odds ratio, OR 0.33, 95% confidence interval, CI 0.22-0.48). Inappropriate procedures were most often performed by plastic surgeons, usually involving large excision biopsies for benign lesions in elderly patients [6.6% (20/305) of their specimens vs. 0% for dermatologists, exact P < 0.001]. Excision biopsies performed by GPs had the highest rate of margin involvement by tumour of any specialty [68% (15/22) of such specimens vs. 8% (9/116) for dermatologists; OR 25.47, 95% CI 8.26-78.53]. As per National Institute for Health and Clinical Excellence guidance, 13.8% (19/138) of tumours operated on by GPs should instead have been referred to secondary care for initial surgical management. CONCLUSIONS: This study presents a strong case for dermatologists to continue to provide the lead in diagnosis of skin lesions, and in selection and execution of dermatological surgical procedures.

A follow-up of four cases of nephrogenic systemic fibrosis: is gadolinium the specific trigger?

We originally reported four patients with nephrogenic systemic fibrosis (NSF) in the British Journal of Dermatology in 2003, and now present an update of their outcome. All four patients (three females and one male) presented within a six month period at our institution, and had received gadolinium contrast agents prior to disease onset. Two patients with functioning renal transplants had limited cutaneous disease, two patients maintained on haemodialysis had more severe disease and died one year after disease onset. Gadolinium deposition was demonstrated in lesional skin of one patient using electron microscopy and energy dispersive spectroscopy.

Proliferation and p53 expression in anal cancer precursor lesions.

BACKGROUND: Anal squamous cell carcinoma (SCC) develops from dysplastic anal warts. This study quantifies the expression of p53 and Ki67 in pre-invasive and invasive anal lesions. MATERIALS AND METHODS: Samples of 70 patients with anal warts (n = 20), low grade anal intraepithelial neoplasia (LG AIN) (n = 12), high grade anal intraepithelial neoplasia (HG AIN) (n = 27) and anal SCC (n = 11) were stained using immunohistochemical techniques. Eight patients with normal anal skin were used as controls. RESULTS: Both the expression of p53 and Ki67 increased significantly (p < 0.001) and gradually as the lesions became dysplastic and invasive. The main increase in p53 expression was as the lesions progressed from anal warts (7.38 +/- 11.93-mean +/- SD) to low grade AIN (20.778 +/- 13.14). CONCLUSION: p53 is involved in the progression of anal cancer and its expression increases from early in the development of pre-invasive anal lesions. p53 and Ki67 may be useful markers of early dysplasia and should be considered in the screening of high risk patients.