HIDRAdisk: validation of an innovative visual tool to assess the burden of hidradenitis suppurativa.

BACKGROUND: Hidradenitis suppurativa (HS) is a chronic, relapsing, inflammatory skin disease characterized by painful inflamed nodules, recurrent abscesses and fistulas located in apocrine gland-bearing body sites. The negative impact of HS on patient's quality of life (QoL) has been reported to be greater than other dermatologic conditions as psoriasis and atopic eczema, and its improvement is an important goal in disease management. Nowadays, there are no specific validated QoL instruments available for HS and generic dermatologic questionnaires are used. OBJECTIVE: The objective of this study was to demonstrate the validity, reliability and responsiveness of HIDRAdisk, a new innovative tool designed for rapid assessment of HS burden and, at the same time, an intuitive graphic visualization of the measurement outcome. METHODS: A multicentre, longitudinal, observational study was conducted to validate the HIDRAdisk compared with other validated questionnaires [Skindex-16, Dermatology Life Quality Index (DLQI), Work Productivity and Activity Impairment-General Health (WPAI:GH)] and to evaluate its correlation with disease severity in Italian patients with any degree of HS severity, as measured by Hurley stage and HS Physician Global Assessment (HS-PGA). RESULTS: A total of 140 patients (59% women; mean age 34.9 ± 11.0 years) were enrolled in 27 dermatologic centres. HIDRAdisk showed a strong correlation with Skindex-16 and DLQI, and a good one with WPAI:GH (correlation coefficient: 0.7568, 0.6651 and 0.5947, respectively) and a statistically significant correlation with both Hurley stage and HS-PGA. Very good internal consistency (Cronbach coefficient >0.80; intraclass correlation coefficient >0.6), with correlation between the 10 items, good test-retest reliability (Spearman correlation coefficient, 0.8331; P < 0.0001) and responsiveness to changes were demonstrated. CONCLUSION: Our study shows that HIDRAdisk, a short and innovative visual HS QoL instrument, has been psychometrically validated in Italian language and it may help improve the management of HS once implemented in routine clinical practice.

Scalp psoriasis: report of efficient treatment with secukinumab.

Psoriasis is a chronic inflammatory skin disease affecting 2-3% of the population in the world. The scalp is the most common, and frequently the first site of disease involvement. Occasionally it may be the only localization of psoriasis. Treatment of scalp psoriasis is often unsatisfactory, due to limited available topical therapy and reduced efficacy of some systemic drugs. Biologic therapies are recommended for severe psoriasis, resistant to topical treatment, but evidence from randomized, controlled studies is lacking regarding effectiveness on scalp-localized lesions. Several clinical studies have shown the efficacy of secukinumab on plaque psoriasis, and some encouraging experience suggest the use in difficult sites such as the scalp; this article reports effective treatment with secukinumab of a series of patients with plaque and scalp psoriasis.

Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group.

Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infusions of agalsidase alfa. For the whole cohort, the average duration of home therapy was 1 year and 11 months (range 3 months-4 years and 6 months), and during this period, compliance to treatment (number of infusions performed vs scheduled) reached 100%. The EQ-5 VAS scale was administered to patients to evaluate the self-reported QoL, 58% of patients showing an increase of EQ-5 VAS score at follow up compared to baseline (home treatment start) or remaining stable. A mild increase of average disease severity, measured through Mainz Severity Score Index (MSSI), was found during hospital treatment (p < 0,007), while it remained stable between the first home therapy infusion and last follow up. Interestingly, 4 out of 7 (57%) patients, showing an improvement in FD-related clinical status after starting home therapy, had previously a sub-optimal compliance to treatment during the period of hospital treatment management. Only 4 adverse non serious reactions (0,093%) were reported totally in 2 patients during home treatment. We conclude that home infusions in eligible patients with FD are safe, contribute to improve treatment compliance and therapeutic clinical outcomes, and may have a positive impact on self-perceived QoL.

Cutaneous Adverse Reactions to Highly Antiretroviral Therapy in HIV-Positive Patients.

Adverse drug reactions to highly antiretroviral therapy (HAART) are major obstacles in its success. Although overall mortality from HIV has dramatically declined owing to HAART, these antiretroviral regimens have been associated with a wide spectrum of severe cutaneous reactions. The severity of cutaneous adverse reactions varies greatly, and some may be difficult to manage. To optimize adherence and efficacy of antiretroviral treatment, clinicians must focus on preventing adverse effects whenever possible, and distinguish those that are self-limited from those that are potentially serious. This paper presents the case of a serious cutaneous adverse reaction to Atripla in a HIV-positive 50-year-old Caucasian woman.

Achilles tendon ultrasonography may detect early features of psoriatic arthropathy in patients with cutaneous psoriasis.

BACKGROUND: Psoriatic arthropathy is a progressive and debilitating disease involving reduction of functional activity of the articulations with consequent deterioration of the patient's quality of life. The entheses represent the initial site of articular inflammation and the enthesis of the Achilles tendon is the first to be affected. In some patients with psoriasis, enthesitis may not be diagnosed because it is still asymptomatic. OBJECTIVES: To evaluate whether ultrasonography allows early diagnosis in a larger population and to identify significant alterations of enthesitis beyond increased thickness of the Achilles tendon. MATERIALS AND METHODS: The study was undertaken on 59 patients (16 women, 43 men), with chronic plaque psoriasis and 59 patients with other dermopathies. The patients underwent echographic evaluation of the Achilles heel using a Voluson imaging system. The severity of the psoriasis was evaluated by the Psoriasis Area Severity Index and the enthesitis by the Glasgow Ultrasound Enthesitis Scoring System (GUESS). RESULTS: The GUESS score was higher in those patients with psoriasis compared with patients with other dermopathies. Among psoriatic patients, 22% (13 of 59) presented tendon thickness over 5·29 mm and irregular tendon structure. Other abnormalities affected the tendon in 12 patients. In seven patients (12%) bursitis was also revealed. CONCLUSIONS: Our data confirm that ultrasonography is a sensitive technique which reveals enthesitis more frequently than clinical examination in patients affected by psoriasis. We suggest the use of ultrasonography of the Achilles tendon in early diagnosis of psoriatic arthropathy with the objective of preventing progression of the pathology.

Multiple cutaneous metastases in the chest from prostatic carcinoma.

We report a case of multiple cutaneous metastases from prostate cancer. A 78-year-old man with an 8-year history of prostate cancer had multiple nodular lesions in the chest. Histologically, the lesion showed an abortive glandular lumina and tall columnar cells with abundant cytoplasm. Immunohistochemical staining for AE1:AE3 cytokeratin cocktail, prostate-specific antigen, and prostate-specific acid phosphatase was positive in tumor cells, confirming the diagnosis of cutaneous metastases from prostate cancer. We report this case because of the rarity of cutaneous metastases from prostatic adenocarcinoma in the chest region.

Optimization of systemic treatments for chronic plaque psoriasis. Recommendations for switching and transitioning.

AIM: The aim of this study was to provide practical recommendations for optimizing the use of conventional and biological systemic treatments for moderate-severe chronic plaque psoriasis, particularly in case of transitioning and switching. METHODS: A total number of 147 dermatologists from 33 different countries including Italy achieved consensus in providing practical recommendations for the use of conventional and biological treatments for moderate to severe psoriasis based on systematic literature review and/or expert opinion. RESULTS: In general, the continuous treatment regimen should be preferred in order to achieve a complete and long-term control of psoriasis. However, the treatment could be stopped or the dose reduced in case of complete disease clearance. A conventional drug could be associated to biological treatment in selected cases. Transitioning and/or switching could be considered in case of inefficacy or intolerance. A period of wash up is required if transitioning or switching is due to safety issues. CONCLUSION: This study provides practical suggestions for the optimal use of conventional and biological treatments for chronic plaque psoriasis.

In vitro and ex vivo effect of hyaluronic acid on erythrocyte flow properties.

BACKGROUND: Hyaluronic acid (HA) is present in many tissues; its presence in serum may be related to certain inflammatory conditions, tissue damage, sepsis, liver malfunction and some malignancies. In the present work, our goal was to investigate the significance of hyaluronic acid effect on erythrocyte flow properties. Therefore we performed in vitro experiments incubating red blood cells (RBCs) with several HA concentrations. Afterwards, in order to corroborate the pathophysiological significance of the results obtained, we replicated the in vitro experiment with ex vivo RBCs from diagnosed rheumatoid arthritis (RA) patients, a serum HA-increasing pathology. METHODS: Erythrocyte deformability (by filtration through nucleopore membranes) and erythrocyte aggregability (EA) were tested on blood from healthy donors additioned with purified HA. EA was measured by transmitted light and analyzed with a mathematical model yielding two parameters, the aggregation rate and the size of the aggregates. Conformational changes of cytoskeleton proteins were estimated by electron paramagnetic resonance spectroscopy (EPR). RESULTS: In vitro, erythrocytes treated with HA showed increased rigidity index (RI) and reduced aggregability, situation strongly related to the rigidization of the membrane cytoskeleton triggered by HA, as shown by EPR results. Also, a significant correlation (r: 0.77, p < 0.00001) was found between RI and serum HA in RA patients. CONCLUSIONS: Our results lead us to postulate the hypothesis that HA interacts with the erythrocyte surface leading to modifications in erythrocyte rheological and flow properties, both ex vivo and in vitro.

Adalimumab for treatment of moderate to severe psoriasis and psoriatic arthritis.

Psoriasis and psoriatic arthritis are common diseases associated with considerable morbidity and disability. Their pathophysiology comprises similar processes leading to inflammation of skin, entheses, and joints. Although traditional systemic agents can be effective, their use may be limited by lack of efficacy and concerns regarding adverse effects. The objective of this study was to assess the efficacy and safety of adalimumab, a fully human antitumor necrosis factor (anti-TNF) monoclonal antibody, over 16 weeks. The present authors report their personal experience in 15 patients with severe plaque psoriasis and psoriatic arthritis, refractory to other treatments, in which a decisive regression of joint/skin involvement was obtained. Psoriasis and psoriatic arthritis are chronic inflammatory disorders resulting from a combination of genetic and environmental factors.

Tuberculoid leprosy and Type 1 lepra reaction.

A patient is described with tuberculoid leprosy and Type 1 (lepra) reaction from Sicily a non-endemic region, who lived previously in Manila from 2000 to 2005. The skin lesions became acutely inflamed and edematous. The plaques were painless to touch or pinprick, and there was swelling of the nerves in the fibro-osseous tunnels under the surface of the skin, including both the ulnar nerve at the elbow, and the posterior tibial nerve (medial malleolus). During the course of electro-neurographic studies, conduction velocity in the motory nerves indicated a slowing-down. The diagnosis of leprosy was confirmed by residence in an endemic area for about 5 years, by simultaneous skin lesions and peripheral nerve abnormalities, and by skin biopsy. Outside of endemic areas, diagnosis remains a challenge for physicians for mainly two reasons. Firstly, the incubation period of leprosy is uniquely long among bacterial diseases and varies from a month to over 40 years. Secondly, outside leprosy-endemic areas, the diagnosis of leprosy is usually not considered, and patients are likely to be examined by a wide range of specialists. Physicians outside endemic areas should consider leprosy as a possible differential diagnosis if a patient from leprosy-endemic regions presents with painless skin lesions, nerve enlargement, or persistent skin lesions.

Myiasis with Dermatobia hominis in a Sicilian traveller returning from Peru.

We report a case of a bot fly infestation of the scalp. A 45-year-old man after returning to Sicily noted a small white "worm" erupting from the upper lesion. Physical examination revealed a superficial furuncular lesion with central pores with sero-sanguineous discharge. The foreign body identified was diagnosed as the larva of the human bot fly, Dermatobia hominis.

Manifestations of the tongue in Neurofibromatosis type 1.

OBJECTIVE: The aim of this study is to analyse alterations of the tongue and the correlation between these lesions and different types of tumor. SUBJECTS AND METHODS: A total of 258 cases (131 females, 127 males) of neurofibromatosis type 1 were screened between 1994 and 2004 in our Dermatology Department. All patients included in this study have NF1, as defined by the NIH Consensus Conference. Three cases of neurofibromas of the tongue in patients with neurofibromatosis type were reported. RESULTS: Our patients showed nodular lesions on the tongue, related to neurofibromas in two patients and plexiform neurofibroma in one patient, respectively. Clinical and hystopatological findings were useful in distinguishing between neurofibromas and other soft tissue tumors. An increased prevalence of malignancy has been documented in patients affected by neurofibromatosis type 1. Changes in the size of a pre-existing mass, compression, or infiltration of the adjacent structures indicate malignant degeneration. Histological and clinical evaluation should be performed in order to choose the most appropriate treatment strategy for these patients. CONCLUSION: The oral manifestations of NF are well-documented but may not be at the forefront of the clinician's mind in the differential diagnosis of intra-oral swellings.

Non invasive evaluation of endothelial function in patients with Anderson-Fabry disease.

AIM: Fabry's disease is an X-linked recessive abnormality of glycosphingolipid metabolism. Increased levels of endothelial prothrombotic factors have recently been demonstrated in Fabry's disease, whereas endothelial function has not been studied using high resolution ultrasound. METHODS: We enrolled 6 patients (4 male, 2 female; mean age, 37 years) and 12 sex matched control subjects (mean age, 37 years). Patients' exclusion criteria included a prior history of cardiac disease, diabetes and treated or untreated hypertension. Patients underwent: anamnesis, physical examination, EKG, 2-dimensional echocardiography with tissue Doppler, measurement of body weight and height, blood pressure. Biochemistry variables were also considered: fasting blood sugar, total cholesterol, HDL-C, LDL-C, triglycerides, fibrinogen, C reactive protein and homocysteine. Using high resolution ultrasound, we assessed the brachial vasodilator response to reactive hyperemia (endothelium-dependent) and sublingual nitroglycerin (NTG) (endothelium-independent). Flow-mediated dilatation (FMD) was expressed as percentage change in post-stimulus diameter in comparison with the baseline. RESULTS: In baseline condition, there was no significant difference between patients and controls in the brachial artery diameter (3.5+/-0.55 vs 3.1+/-0.4). After reactive hyperemia, the FMD change was significantly higher in controls than in patients (16.5+/-6.3% vs 9.3+/-6.2%, P<0.05). After NTG, endothelium-independent vasodilation did not show a significant difference between cases and controls (15+/-7.7% vs 13.8+/-7.1%). CONCLUSIONS: Our study demonstrated the presence of endothelial dysfunction in patients with Fabry's disease in comparison to controls. We hypothesized that endothelial dysfunction may contribute to the pathogenesis of ischemic events in patients with Fabry's disease.