No abstract

Objective. Juvenile localized scleroderma is a chronic progressive fibrotic disorder of the skin that causes permanent disability and aesthetic damage. This study was undertaken to assess the safety and efficacy of methotrexate (MTX) in the treatment of juvenile localized scleroderma.Methods. In this double-blind study, patients with active juvenile localized scleroderma were randomized (2:1) to receive oral MTX (15 mg/m 2 , maximum 20 mg) or placebo once weekly, for 12 months or until treatment failure. Both groups received oral prednisone (1 mg/kg/ day, maximum 50 mg) for the first 3 months. A target lesion was evaluated clinically, with infrared thermography and using a computerized scoring system with skin score rate (SSR) evaluation. Response to treatment was defined as the absence of new lesions, SSR <1, and a decrease in lesion temperature of at least 10% compared to baseline. Treatment failure was defined as the occurrence of new lesions, SSR >1, or increased lesion temperature. All analyses were done on the intent-totreat population.Results. Of the 85 patients screened, 70 (ages 6-17 years) were randomized (46 to the MTX group, 24 to the placebo group). The mean disease duration was 2.3 years. After an initial response in all patients, disease relapsed in 15 MTX-treated patients (32.6%) and 17 placebo-treated patients (70.8%) (P < 0.005). New lesions appeared in 3 MTX-treated patients (6.5%) versus 4 placebo-treated patients (16.7%). The mean SSR decreased from 1 to 0.79 in the MTX group and increased from 1 to 1.1 in the placebo group, and the mean target lesion temperature decreased by 44.4% in the MTX group versus 12.1% in the placebo group. Twenty-six patients in the MTX group (56.5%) and 11 patients in the placebo group (45.8%) developed mild side effects related to treatment. None of the side effects were severe enough to necessitate treatment discontinuation.Conclusion. Our findings indicate that MTX is efficacious in the treatment of juvenile localized scleroderma and is well tolerated.

To analyze the clinical features, response to treatment, and follow-up of lichen striatus and any associated symptoms or disease, we designed a retrospective study involving 115 affected children at the Pediatric Dermatology Unit of the Department of Dermatology of the University of Bologna, Bologna, Italy. Between January 1989 and January 2000 we diagnosed lichen striatus in 37 boys and 78 girls (mean age 4 years 5 months). We studied their family history and the season of onset, morphology, distribution, extent, duration, histopathology, and treatment of their lichen striatus. We found that family history was negative in all our patients except for two pairs of siblings. The majority of children had the disease in the cold seasons; precipitating factors were found in only five cases. The most frequently involved sites were the limbs, with no substantial difference between upper and lower limb involvement. When lichen striatus was located on the trunk and face, it always followed Blaschko lines; in seven children the bands on the limbs appeared to be along the axial lines of Sherrington. In 70 cases, lichen striatus was associated with atopy. The mean duration of the disease was 6 months and relapses were observed in five children, and in one instance the disease had a prolonged course. Only a few case study series of lichen striatus in children have been reported and ours is the largest to date. The etiology of lichen striatus remains unknown in the majority of our patients. The confirmed association with atopy observed in our patients may be a predisposing factor. It has generally been accepted that lichen striatus follows the lines of Blaschko, and this distribution is a sign of both a topographic and a pathogenetic concept. In patients where lichen striatus is along axial lines, a locus minoris resistentiae, we suppose that this distribution may only be an illusory phenomenon in instances in which the trigger factor prefers this route, consisting of several successive Blaschko lines, but appearing as a single band.

In the absence of a clear evidence base, the European TREAT survey confirms the wide variation in prescribing practice of systemic immunosuppression in refractory paediatric atopic eczema. The results will be used to inform the design of a randomized controlled trial relevant to patient management across Europe.

The aim of this study was to determine the ways in which atopic dermatitis (AD) affects the lives of young Italian children and their families, in terms of quality of life, and correlate it with AD severity and the perception of severity as estimated by the family. The parents of 45 children aged 3-84 months affected by AD were asked to complete two validated questionnaires after clinical examination. The first questionnaire was about the child's quality of life (Infants' Dermatitis Quality of Life Index); the second regarded the family's quality of life (Dermatitis Family Impact questionnaire). In a further question parents were asked to estimate the severity of the disease of the child. Children's quality of life appeared slightly-moderately altered (mean score 10.2) compared with the value of a control group (3.3), and itching, sleep problems and the influence of the disease on the child's mood were the cause of greatest discomfort for the child. Family quality of life appeared moderately altered (mean score 11) compared with the value of the control group (7.4). The greatest problem was the disturbed sleep of the family members. Other important problems were the economic cost for the management of the disease and the tiredness and irritability caused by the disease in parents. Analysis of the responses confirms the incorrect estimation of the severity of the disease perceived by the family. In our opinion, the two questionnaires may be useful in clinical practice to understand better the difficulties suffered by a family with a child affected by AD. They also provide data that may help to improve the clinical approach for the child and the family, and to assess the degree of under-/overestimation of the disease by the family.

Kindler syndrome (OMIM 173650) is a rare autosomal recessive disorder characterized by trauma-induced blister formation (especially in childhood) and photosensitivity. Other features include mucocutaneous scarring and progressive poikiloderma. There is also an increased risk of skin and mucous membrane malignancy. The disorder was recently mapped to 20p12.3 and pathogenic mutations were identified in a new gene, KIND1. This gene encodes a 677 amino acid protein, kindlin-1, a component of focal contacts in keratinocytes. In this study, we identified four new recurrent mutations in KIND1 in 16 individuals with Kindler syndrome from 13 families of Pakistani (676insC), UK Caucasian (E304X), Omani (W616X), or Italian (958-1G > A) origins. Haplotype analysis demonstrated common ancestral mutant alleles for each mutation, apart from one of the six Pakistani families in which the mutation 676insC (which occurs in a repeat of seven cytosines) was present on a different genetic background. All mutations were homozygous, apart from the three UK Caucasian cases that were all compound heterozygotes (second allele mutations: L302X, 1161delA, 1909delA). All mutations were associated with markedly reduced or absent skin immunostaining with an antikindlin-1 antibody. These loss-of-function KIND1 mutations demonstrate the importance of kindlin-1 in maintaining epithelial integrity, although the mechanism linking this mutant protein to photosensitivity and poikiloderma remains to be determined. Delineation of these recurrent mutations is also relevant to optimizing mutation detection strategies in Kindler syndrome patients from particular ethnic backgrounds.

No abstract

We report 13 girls, ages 4 months-5 years, affected by an infantile perianal protrusion located on the midline anterior to the anus in 8 patients and posteriorly in 3. A past personal history of constipation existed in six patients and anal fissures in three patients. In one of the five patients with recurrent anogenital erythema, a punch biopsy specimen revealed the histopathologic signs of lichen sclerosus et atrophicus (LS&A). In another two patients, infantile perianal protrusion was associated with clinical signs of genital LS&A. None of our patients had spontaneous reduction of infantile perianal protrusion during the follow-up period.