BackgroundInherited 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.MethodsSera 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.ResultsThe 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.ConclusionsThe 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.

Eleven infants, 4 to 5 months old, treated for napkin (diaper), seborrhoeic or atopic dermatitis with topical fluorinated steroids, developed granulomatous lesions in the napkin area. Seven patients were followed up for more than 6 months: in four of them the granulomatous lesions regressed leaving lax atrophic scars. It is suggested that fluorinated steroid creams and plastic pants are the precipitating causes.While the pathogenesis of granuloma infantum (Tappeiner & Pfleger, 1971) still remains to be fully elucidated, most authors {Bazex et al., 1972;Delacretaz et al., 1972;Uyeda et al.^ 1973) believe that the use of topical fluorinated steroids is a major precipitating factor.The occurrence of eight new cases in 1979 and the persistence of atrophic lax scars in the first cases which we were called upon to treat in 1975, prompted us to review the subject. Case reportsCase I. An infant boy, was referred to us in 1975 at the age of 4 months, with an erythematous dermatitis in the napkin area and with reddish blue, cord-like nodular perianal lesions, which had been treated for long periods with fluorinated steroids. Mycological investigations showed the presence of Candida albicans. Following treatment with wet compresses, the lesions disappeared in 2 months. Case 2. An infant boy, was referred to us at the age of 5 months in 1975. From the second month of life he had severe seborrhoeic dermatitis involving the inguinal regions and was 0307-6938,81 0100-0023 S02.00 0 1981 Blackwell Scientific Publications 23 E.Bonifazi et al.

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.

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.

In this work, we describe the clinical and instrumental results of our experience, the first reported in the literature, of the administration of teriparatide to treat severe osteoporosis secondary to epidermolysis bullosa. Already after 2 months of therapy, the patient, a 20-year-old affected by a recessive form of epidermolysis bullosa dystrophica, had less pain and a functional recovery resulting in an improved autonomy; a satisfactory increase in the densitometric values was documented.