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Inflammatory Bowel Diseases 06/2009; 16(2):182-3. · 4.86 Impact Factor
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Journal of the American Academy of Dermatology 12/2008; 59(5 Suppl):S126-7. · 3.99 Impact Factor
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ABSTRACT: Tuberous sclerosis complex (TSC) is associated with mutations in two likely tumor-suppressor genes (TSC1 and TSC2) and characterized by the development of tumor-like growths (angiofibromas) in a variety of tissues and organs, particularly brain and skin.
Employing a DNA-microarray assay, able to detect mRNA production from 1176 different basic genes, we analyzed the gene-expression levels in a cutaneous hamartoma sample from a TSC patient. Altered gene expressions detected by microarray technology were further checked by quantitative reverse-transcriptase polymerase chain reaction (RT-PCR) in the same material and in cutaneous hamartoma samples obtained from five other TSC patients.
The results obtained by the microarray technology in one hamartoma specimen, confirmed by the RT-PCR results obtained in the same material and in five other hamartoma specimens, demonstrated that TSC-related angiofibromas exhibit significant mRNA overexpression of two genes, represented by MLH-1 and psoriasin.
The overexpression of MLH-1, which codes for a DNA mismatch repair protein, and psoriasin, which codes for a specific chemoattractant factor for CD4+ T cells, implicated in the pathogenesis of inflammatory skin disease, and expressed in excess during abnormal pathways of cell growth, may shed light on the pathogenesis of the proliferative skin lesion.
Journal of Cutaneous Pathology 10/2006; 33(9):608-13. · 1.56 Impact Factor
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Journal of Investigative Dermatology 09/2004; 123(2):407-9. · 6.31 Impact Factor
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ABSTRACT: Serum antibodies against human intracisternal A-type particle (HIAP) endogenous retrovirus have been found to be associated with various autoimmune pathologies. To evaluate the presence of serum antibody reactivity to HIAP proteins in systemic sclerosis, a Western blot analysis was performed on sera from 42 patients with systemic sclerosis, in comparison with 18 sera from patients with primary biliary cirrhosis and 52 healthy subjects. A positive Western blot was found in 55.5% of serum samples from patients with primary biliary cirrhosis and in 66.0% of patients with systemic sclerosis. None of the 52 healthy subjects showed positive results. Although this difference may be attributable either to an autoimmune response to antigenically related cellular proteins or to a specific antibody response to HIAP proteins expressed as an incidental consequence of attendant pathological processes, the high prevalence of antibodies against HIAP proteins demonstrated in patients with systemic sclerosis may be considered a hallmark of this disease.
Acta Dermato Venereologica 02/2004; 84(3):177-80. · 3.18 Impact Factor
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ABSTRACT: Over the last few years, carotenoids have been studied extensively for their antioxidant activity and the supposed protective effects against cancer, in particular those of the digestive tract.1–4 Consumption of carotenoids as anti-ageing agents is also widely diffuse.5 Moreover, the diffusion of slimming and vegetarian diets, and thus the consumption of fruit and vegetables, which contain large amount of carotenoids, is increasing. On the other hand, the excessive dietary intake of carotenoid-containing foods may cause different afflictions characterized by a ‘yellow–orange’ discoloration of the skin.6–8 One of these carotenoids, the lycopene, present in high concentrations in tomatoes, may cause a rare cutaneous disease called lycopenaemia.9
Journal of the European Academy of Dermatology and Venereology 05/2002; 14(4):311 - 312. · 2.98 Impact Factor
