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The incidence of prepubertal melanoma is not raising in children, unlike adolescent and adult (24). Its incidence therefore remains so low that no center is able to do statistics only based on its cases. Over the past 40 years in five Italian Pediatric Dermatology centers 15 cases of melanoma in children aged under 12 years were observed, 4 of which associated with large or multiple congenital melanocytic nevi. The latter, including two cutaneous melanomas arising on congenital melanocytic nevi and 2 meningoencephalic melanomas, started early - average age at diagnosis 18 months - and had poor prognosis quoad vitam. The 11 melanomas arising on normal skin - 8 cases - or associated with small congenital - 1 case - or acquired - 2 cases - melanocytic nevi started at a later age - average age 9.2 years - and had a good prognosis despite average thickness of 2 mm and lymph node involvement in 3/11 cases. These two categories of prepubertal melanoma, though so different from each other, shared the same nodular or ulcerative non specific, often amelanotic clinical appearance. Therefore, they were different and more difficult to be diagnosed as compared with pigmented and usually initially superficial spreading adult melanoma.

Contains fulltext : 81709.pdf (Publisher’s version ) (Closed access) The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. Three were microdeletions eliminating PORCN and encompassing neighboring genes such as EBP, the gene associated with Conradi-Hunermann-Happle syndrome (CDPX2). 12/24 patients carried nonsense mutations resulting in loss of function. In one case a canonical splice acceptor site was mutated, and 8 missense mutations exchanged highly conserved amino acids. FDH patients overcome the consequences of potentially lethal X-chromosomal mutations by extreme skewing of X-chromosome inactivation in females, enabling transmission of the trait in families, or by postzygotic mosaicism both in male and female individuals. Molecular characterization of the PORCN mutations in cases diagnosed as Goltz syndrome is particularly relevant for genetic counseling of patients and their families since no functional diagnostic test is available and carriers of the mutation might otherwise be overlooked due to considerable phenotypic variability associated with the mosaic status.

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 â1, 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-to-treat 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 ;lt& 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. Copyright © 2011 by the American College of Rheumatology.

La sindrome di Rothmund-Thomson (RTS; MIM#268400) è una rara genodermatosi a trasmissione autosomico recessiva, caratterizzata da ampia eterogeneità clinica e genetica (Larizza et al., 2010). Mutazioni bialleliche nel gene RECQL4 (MIM*603780) codificante per una elicasi della famiglia RecQ, sono presenti in 2/3 dei pazienti, e definiscono il sottotipo RTS-II in cui il segno cardine cutaneo del poichiloderma (teleangectasia, ipo- ed iper-pigmentazione, atrofia) ad insorgenza precoce su volto e arti è associato a bassa statura, alterazioni scheletriche, e aumentato rischio di sviluppare tumori, quali l’osteosarcoma nell’infanzia (età media di insorgenza 14 anni) e tumori cutanei in età adulta. E’ stata indicata una correlazione tra mutazioni troncanti che affliggono il dominio elicasico di RECQL4 (aminoacidi 489-662 e 683-850) e la predisposizione al cancro. Riportiamo l’analisi clinica e molecolare di 3 nuovi pazienti: RTS-6f, RTS-6m e RTS-29.

Aim. This paper evaluates the effects of colloidal oatmeal (derived by Avena Sativa L.) derivates in daily use of some products for skin care on 300 children, during a randomized controlled trial. Methods. All the subjects recruited were randomly allocated to one of five groups. All children used the same product for three months. Results. After 3 months of treatment the cutaneous conditions improved according to the physicians in 201/263 children. Parents increased satisfaction level during the study as their judgement regarding the products was "very good" in 153/263 cases after 2 weeks of treatment and in 201/263 cases after 3 months. Conclusions. These results suggest that colloidal oatmeal products are indicated in daily use of children with mild dermatitis and are useful to cooperate with pharmacological products

AIMS: Recent data in mouse and rat demyelination models indicate that administration of thyroid hormone (TH) has a positive effect on the demyelination/remyelination balance. As axonal pathology has been recognized as an early neuropathological event in multiple sclerosis, and remyelination is considered a pre-eminent neuroprotective strategy, in this study we investigated whether TH administration improves nerve impulse propagation and protects axons. METHODS: We followed up the somatosensory evoked potentials (SEPs) in triiodothyronine (T3)-treated and untreated experimental allergic encephalomyelitis (EAE) Dark-Agouti female rats during the electrical stimulation of the tail nerve. T3 treatment started on the 10th day post immunization (DPI) and a pulse administration was continued until the end of the study (33 DPI). SEPs were recorded at baseline (8 DPI) and the day after each hormone/ vehicle administration. RESULTS: T3 treatment was associated with better outcome of clinical and neurophysiological parameters. SEPs latencies of the two groups behaved differently, being briefer and closer to control values (=faster impulse propagation) in T3-treated animals. The effect was evident on 24 DPI. In the same groups of animals, we also investigated axonal proteins, showing that T3 administration normalizes neurofilament immunoreactivity in the fasciculus gracilis and tau hyperphosphorylation in the lumbar spinal cord of EAE animals. No sign of plasma hyperthyroidism was found; moreover, the dysregulation of TH nuclear receptor expression observed in the spinal cord of EAE animals was corrected by T3 treatment. CONCLUSIONS: T3 supplementation results in myelin sheath protection, nerve conduction preservation and axon protection in this animal model of multiple sclerosis.

Atopic dermatitis (AD) is a complex and heterogeneous disease whose incidence and prevalence is increasing in developed countries. The management of patients with AD is sometimes difficult, and includes proper recognition of trigger factors. Here guidelines for the diagnosis and therapy of AD that are based on scientific evidence are proposed. The development of guidelines should avoid useless intervention, reduce disease costs and promote a better patient care.