Cutaneous manifestations in antiphospholipid syndrome.

Antiphospholipid syndrome (APS) is a hypercoagulable state that leads to thrombosis and recurrent pregnancy loss related to the presence of antiphospholipid antibodies (LAC, anticardiolipin, antiA2-glycoprotein). Among cutaneous manifestations, livedo reticularis is the most frequent form of APS. In the literature, there are rare cases associated with diffuse skin necrosis (widespread skin necrosis) and intravascular thrombosis in the small vessels of the dermis. We describe the case of a 44-year-old man with positive anticardiolipin antibodies and protein S deficiency that developed scattered, bullous skin lesions, haemorrhagic in appearance with signs of necrosis as first clinical manifestation of antiphospholipid syndrome.

Excimer UV radiation in dermatology.

Ultraviolet B (UVB 290-320 nm) radiation has been used in the treatment of different skin diseases. Light sources with narrowband UVB output spectrum have been developed with the aim of increasing the rates of “beneficial to side effect” profile of the treatment. Narrowband UVB phototherapy using fluorescent lamps (TL01, 311∓2nm) has been widely adopted over the past 10 years. Monochromatic Excimer Light (MEL) represents a new source of narrow-band UVB emitting at 308 nm and guarantees a safe and effective approach to different chronic and recurrent skin diseases thanks to its potent and selective immunosuppressant action.

Cutaneous manifestations in patients with chronic renal failure on hemodialysis.

Patients with chronic renal failure (CRF) may exhibit various cutaneous abnormalities, including changes in skin colour, pruritus, xerosis, hair, nail and oral changes, metastatic calcinosis, and bullous dermatosis. These changes have a considerable negative effect on the patient's quality of life. Early recognition of cutaneous signs and prompt initiation of treatment can dramatically alter their course and decrease morbidity.

Allele frequencies for 26 STR loci in a population of Tuscany (Central Italy).

Allele frequencies for 26 short tandem repeats (STRs) were obtained from a sample of 203 unrelated individuals living in the area of Florence, Prato and Pistoia (Tuscany, Central Italy). These 26 loci are in addition to the existing 13 U.S. core loci and can help provide assistance in complex kinship testing when, for example, the alleged father is not available for testing. The results were compared with U.S. Caucasian, African American and Hispanic populations.

The 2011 GeFI collaborative exercise. Concordance study, proficiency testing and Italian population data on the new ENFSI/EDNAP loci D1S1656, D2S441, D10S1248, D12S391, D22S1045.

The 2011 collaborative exercise of the ISFG Italian Working Group GeFI was aimed at validating the five ENFSI/EDNAP miniSTR loci D1S1656, D2S441, D10S1248, D12S391 and D22S1045. The protocol required to type at least 50 multilocus profiles from locally resident individuals and two blind bloodstains in duplicate (i.e., using at least two different commercial kits), and to send the electropherograms to the Organizing Committee. Nineteen laboratories distributed across Italy participated, collecting a total of 960 samples. Full concordance was found for the five new miniSTRs as observed from the comparison of 13,150 alleles. The inspection of the electropherograms allowed the identification of a very limited number of mistypings in the miniSTR genotypes thus contributing to the establishment of an high quality Italian database of frequencies.

[New functions and applications of vitamin D in internal medicine]. / Nuove funzioni e applicazioni della Vitamina D in Medicina Interna.

The role of vitamin D (Vit. D) in bone metabolism is well known. It has recently been described that Vit. D exerts immunoregulatory activity, anti-proliferative and pro-differentiation mediated by intracellular receptors of the vitamin (VDR), so it seems to prevent the onset of some cancers (colon, prostate, etc.) and finally has a role in the evolution of some skin dermatoses such as psoriasis and atopic dermatitis. It well known that the presence of low blood levels of Vit. D, associated with the polymorphism of the VDR gene, may correlate with some inflammatory diseases such as also indicated by some authors, according to which the metabolites of Vit. D would be the clinical markers of certain diseases chronic and autoimmune diseases.

[Ashy dermatosis: clinico-pathological associations in two cases]. / Ashy dermatosi: correlazioni clinico-patologiche in due casi.

Case 1. A 54 year old woman affected by chronic asthmatic bronchitis from the age of 11 years and ulcerous recto-colitis from 15 years, presented several erythematous-violaceous macules from the trunk including abdominal region to all skin surface except the face. Case 2. A 17 year old woman presented a similar hyperpigmentation in the same areas. In both patients histology showed a thin epidermis with vacuolar changes of basal layer and apoptotic bodies and melanophages rich in melanosomes in the papillary dermis. Our diagnosis was Ashy dermatitis. Clinico-pathological correlations and treatment options are discussed.

Metabolically labile cannabinoid esters: a 'soft drug' approach for the development of cannabinoid-based therapeutic drugs.

Biphenylic ester derivatives, designed by using a 'soft-drug' approach, proved to possess good binding properties toward cannabinoid CB(1) and CB(2) receptors and, at the same time, their metabolically labile ester portion would promote a rapid systemic inactivation. This may constitute a possible solution to the psychotropic side effects encountered when cannabinoids are therapeutically employed as local analgesic or antiglaucoma agents.

Topical use of calcitriol 3 microg/g ointment in the treatment of mild-to-moderate psoriasis: results from an open-label study.

BACKGROUND: Calcitriol is the active metabolite and hormonal analogue of vitamin D3. It is widely used for the topical treatment of psoriasis showing good tolerability and effectiveness. OBJECTIVES: To assess the efficacy, tolerability and safety of calcitriol 3 microg/g ointment in mild to moderate plaque psoriasis involving sensitive areas. METHODS: Sixty patients with a body surface area < 35% were enrolled into a prospective open label clinical study. Patients were treated for 12 weeks with a twice daily calcitriol 3 microg/g topical ointment application. Efficacy and safety were assessed during the therapy and during a 6-month follow-up period. RESULTS: The study demonstrated a high clinical remission rate which progressively increased throughout therapy (11.6% at week 4, 28.3% at week 8 and 63.3% at week 12). No serious adverse events and clinically relevant changes of calcium/phosphorus homeostasis were reported. CONCLUSIONS: The study suggests that calcitriol 3 microg/g ointment, applied twice daily, is an effective topical treatment for chronic psoriatic plaques involving less than 35% of the body surface and sensitive areas.

Fumaric acid esters in the treatment of psoriasis: an Italian experience.

BACKGROUND: Psoriasis is a common, chronic, cell-mediated, inflammatory skin disease. Treatment limitations and a developing understanding of its pathogenesis on a molecular level have encouraged much interest in the field of immunomodulatory therapy. OBJECTIVE: To evaluate the efficacy and safety of fumaric acid esters, in particular dimethylfumarate (DMF), in the treatment of moderate to severe plaque psoriasis intolerant and/or resistant to other conventional systemic therapies. METHODS: A total of 40 patients were enrolled in this study. DMF was orally administered at the daily dose of 30 mg up to 360 mg for a minimum of 6 months treatment. Patients were followed-up with psoriasis area and severity index (PASI) score assessment, and clinical and photographic documentation. RESULTS: A total of 33 (82.5%) patients achieved complete clinical remission with DMF treatment: eight after 3 months and 25 after 6 months. Adverse events, such as intolerable abdominal cramps and incoercible diarrhoea, occurred in four patients who, for this reason, interrupted therapy. CONCLUSION: The findings suggest that DMF is a safe, effective and well-tolerated long-term oral treatment worthy of consideration for selective patients.

Risk factors for psoriasis: a retrospective study on 501 outpatients clinical records.

Possible risk factors for psoriasis were studied by means of a retrospective evaluation of epidemiological and clinical features in 472 clinical records of outpatients affected by plaques psoriasis. We calculated the relation between the categorical variables with chi-squares contingency table analysis (with Yates correction) and odds ratio (O.R.) from the two variables with their respective confidence intervals at 95%. Among patients 267 were men (57%) and 205 women (43%); the mean age was 46.5+/-16.7 years, with no differences in sex. A significant relationship was found between age at onset < or =40 years and familiarity for psoriasis (p<0.0001-O.R.=2.71, C.I..95%: 2.12-3.48). The percentage of men with extensive lesions (extension >30%) was significantly higher than of women (p<0.05-O.R.=1.60, C.I..95%:1.35-1.90). Moreover, a significant association between extension of lesions and BMI was detected (p<0.0107-O.R.=2.10, C.I.95%:1.33-3.30) and the strength of this relation was assessed using the linear regression test. Mean age at onset was significantly lower in patients systemically treated (p<0.0003-O.R.=2.61, C.I.95%: 1.69-4.04). The results obtained can provide the basis for a standard clinical record, including data for a prospective study that may confirm the relation between psoriasis and some risk factors.

Diagnosis of pigmented skin lesions by dermoscopy: web-based training improves diagnostic performance of non-experts.

BACKGROUND: Dermoscopy has been shown to enhance the diagnosis of melanoma. However, use of dermoscopy requires training and expertise to be effective. OBJECTIVES: To determine whether an Internet-based course is a suitable tool in teaching dermoscopy, and to evaluate the diagnostic value of pattern analysis and diagnostic algorithms in colleagues not yet familiar with this technique. METHODS: Sixteen colleagues who were not experts in dermoscopy were asked to evaluate the dermoscopic images of 20 pigmented skin lesions using different diagnostic methods (i.e. pattern analysis, ABCD rule, seven-point checklist and Menzies' method), before and after an Internet-based training course on dermoscopy. Mean +/- SEM sensitivity, specificity and diagnostic accuracy, and kappa (kappa) intraobserver agreement were evaluated for each diagnostic method before and after training for the 16 participants. Differences between mean values were assessed by means of two-tailed Wilcoxon rank-sum tests. RESULTS: There was a considerable improvement in the dermoscopic melanoma diagnosis after the Web-based training vs. before. Improvements in sensitivity and diagnostic accuracy were significant for the ABCD rule and Menzies' method. Improvements in sensitivity were also significant for pattern analysis, whereas the sensitivity values were high for the seven-point checklist in evaluations both before and after training. No significant difference was found for specificity before and after training for any method. There was a significant improvement in the kappa intraobserver agreement after training for pattern analysis and the ABCD rule. For the seven-point checklist and Menzies' method there was already good agreement before training, with no significant improvement after training. CONCLUSIONS: We demonstrated that Web-based training is an effective tool for teaching dermoscopy.

Local treatment of chronic cutaneous leg ulcers with recombinant human granulocyte-macrophage colony-stimulating factor.

AIM: To test the efficacy and safety of recombinant granulocyte-macrophage colony-stimulating factor (rHuGM-CSF) in the treatment of chronic cutaneous leg ulcers. METHODS: Five patients with chronic cutaneous leg ulcers were recruited for this 4-month study using only rHuGM-CSF to treat the ulcers. One patient had a neuropathic-diabetic ulcer, and four had long-standing vascular leg ulcers. RESULTS: The patient with the neuropathic diabetic ulcer showed complete healing after 1 month of treatment. The other four patients with vascular leg ulcers with a long history of ulceration had a poor prognosis for healing. The first, with three venous ulcerative lesions, presented complete resolution of one ulcer and stabilization of the other two; the second and third patients, with large vascular ulcers, improved with more then 50% reduction of the mean diameter of the ulcers; the fourth patient, with one large venous ulcer, did not show any improvement. CONCLUSIONS: Pathogenesis, size and duration of the ulcers seemed to be the most important parameters regarding wound repairing capability of rHuGM-CSF. None of the ulcers increased in size and none of the patients developed clinical side-effects or peripheral blood cell count abnormalities during the treatment. All the results described were stable after 6 months of follow up. The absence of peripheral leucocyte count variation and the size-dependent therapeutic effect indicate that the drug exercises local rather than systemic actions.

Graham Little-Piccardi-Lassueur syndrome: effective treatment with cyclosporin A.

Graham Little-Piccardi-Lassueur syndrome (GLPLS) is a rare lichenoid dermatosis defined by scarring alopecia, loss of pubic and axillary hairs and progressive development of horny follicular papules variously located. Topical or systemic corticosteroids, retinoids or PUVA therapy are the treatments usually proposed and these have partial and temporary benefits. We describe the effectiveness of cyclosporin A in a case of GLPLS at the dosage of 4 mg/kg/day. At the end of treatment, substantial reduction of both perifollicular erythema and follicular hyperkeratotic papules was observed. After 3 months of follow-up, besides the results already obtained, a few areas of hair regrowth in the scarring patches and a more consistent improvement of the follicular papules were detected. We believe that cyclosporin A could be effective mainly in the initial phases of this rare variant of lichen planopilaris, before the development of severe follicle damage, either by interfering with the acute inflammatory processes or by limiting the progression of the disease. To the best of our knowledge, this is the first report showing a good and persistent therapeutic effect of cyclosporin A in GLPLS.

Ocular alterations in alopecia areata.

PURPOSE: To determine the ocular alterations occurring in alopecia areata with regard to the lens and fundus. METHODS: Seventy-five patients with alopecia areata were examined. Seventy healthy control patients unaffected by skin, ocular or systemic disorders were also studied. RESULTS: Symptomless punctate lens opacities were found in 38 (51%) patients, whereas only 2 (3%) control patients had similar lens changes. Fundus alterations were found in 31 (41%) cases of alopecia areata and in only 16 (23%) controls. CONCLUSIONS: These ocular alterations and their prevalence are reported and some theories regarding the possible aetiopathogenetic mechanisms are discussed.