Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa.

BACKGROUND: Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes.There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived from mutations in the type VII collagen gene (COL7A1), encoding a protein which is the predominant component of the anchoring fibrils at the dermal-epidermal junction.For the first time in literature, we have evaluated the presence of anti-skin autoantibodies in a wider cohort of patients suffering from inherited EB and ascertained whether they may be a marker of disease activity. METHODS: Sera from patients with inherited EB, 17 with recessive dystrophic EB (RDEB), 10 with EB simplex (EBS) were analysed. As much as 20 patients with pemphigus vulgaris, 21 patients with bullous pemphigoid and 20 healthy subjects were used as controls.Anti-skin autoantibodies were tested in all samples with the Indirect Immunofluorescence (IIF) method and the currently available ELISA method in order to detect anti-type VII collagen, anti-BP180 and anti-BP230 autoantibodies. RESULTS: The mean concentrations of anti-type VII collagen autoantibodies titres, anti-BP180 and anti-BP230 autoantibodies were statistically higher in RDEB patients than in EBS patients.The sensitivity and specificity of the anti-type VII collagen ELISA test were 88.2% and 96.7%. The Birmingham Epidermolysis Bullosa Severity score, which is used to evaluate the severity of the disease, correlated with anti-skin autoantibodies titres. CONCLUSIONS: The precise pathogenic role of circulating anti-skin autoantibodies in RDEB is unclear. There is a higher prevalence of both anti-type VII collagen and other autoantibodies in patients with RDEB, but their presence can be interpreted as an epiphenomenon.

End-stage renal disease secondary to IgA nephropathy in recessive dystrophic epidermolysis bullosa: a case report.

Epidermolysis bullosa (EB) consists of a group of dominant or recessive autosomal diseases characterised by skin and mucosa fragility. The lesions leave erosions and scars that, in turn, can cause stenosis of tracheal, oesophageal, and genitourinary tract mucosae. The significantly increased survival of EB patients has determined the onset of complications never observed before, including genitourinary disorders such as hydroureteronephrosis, recurrent urinary tract infections, renal amyloidosis, IgA nephropathy and post-infectious glomerulonephritis. A 6-year-old boy diagnosed with recessive dystrophic EB Hallopeau-Siemens type (RDEB-HS) was referred to our clinic because of microhaematuria that evolved into intra-infectious macrohaematuria. Renal biopsy revealed an increase in both extracellular matrix and mesangial cells, with a focal segmental glomerulosclerosis with severe chronic tubulointerstitial damage. Immunofluorescence showed IgA mesangium deposits. Five years later, he was started on haemodialysis, because of worsening renal function. This is a rare case of a child with EB who was successfully treated with haemodialysis. The pertinent literature has been reviewed.

Mycosis fungoides/Sézary syndrome: a report of three cases treated with Campath-1H as salvage treatment.

We report the use of Alemtuzumab (Campath-1H) as salvage treatment in three patients with advanced mycosis fungoides/Sézary syndrome who had previously been treated with conventional chemotherapy. Two patients (case 1 and case 2), aged 42 and 68 yr, respectively, were heavily pretreated (more than three prior therapy regimens, including autologous transplant in case 2) and refractory to conventional chemotherapy, and the third patient (case 3), aged 80 yr, who had refused any chemotherapy, had been resistant to treatment with cyclosporine and steroids. Campath-1H was administered intravenously, after an escalating dose from 3 to 10 mg, at the dose of 30 mg, three times weekly, to a total dose of 1080, 223, and 480 mg, respectively. The patients with Sézary syndrome (case 2 and case 3) showed clearance of circulating Sézary cells and clinical improvement of the skin lesions after 2 wk of treatment. Two patients (case 1 and case 3) completed the treatment (12 and 6 wk) without significant toxicity, the former achieving a partial response and the latter a clinical complete response. The patient (case 2), who suffered from ischemic cardiopathy and diabetes, quickly achieved a clinical improvement of the Sézary syndrome, but he died because of a myocardial infarction after 3 wk of treatment. Our report shows that the treatment with Campath-1H is active even in patients with advanced refractory mycosis fungoides/Sézary syndrome. Further clinical observations on a larger cohort of patients are needed to establish if Campath-1H may have a role as first line therapy in addition to conventional therapy including chemotherapy.