Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis.

The case of a 24-year-old male patient affected by follicular occlusion tetrad (acne conglobata, hidradenitis suppurativa, pilonidal cyst and dissecting cellulitis of the scalp) associated with clinical signs of pachyonychia congenita (PC)-2 (focal palmoplantar keratoderma, plantar pain, onycodystrophy and multiple cysts) is reported. The diagnosis was supported by genetic analysis that showed heterozygous mutation within the exon 1 of KRT17 gene. This case may reflect different expressions of a phenotypic spectrum induced by a common genetic alteration.

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.

Sex-related differences of clinical features in hidradenitis suppurativa: analysis of an Italian-based cohort.

The clinical characteristics associated with hidradenitis suppurativa (HS) severity are poorly understood. In this study, 124 patients with HS from 6 Italian dermatology centres participated in this study. Disease severity was assessed using the Hidradenitis Suppurativa Physician's Global Assessment score (HS-PGA) and Hurley score. The impact of clinical characteristics on disease severity was assessed by logistic regression. Clinical characteristics were similar between men (n = 53) and women (n = 71). Disease severity was also similar; 75% of the patients had Hurley stage II or III disease, and > 60% had moderate, severe or very severe HS as judged by HS-PGA. Lesions were more frequent in the gluteal region in men (32.3% in men vs. 8.7% in women, P < 0.001) and more frequent on the breast in women (16.3% in women vs. 4.6% in men, P = 0.02). Obesity was associated with increased disease severity as measured by HS-PGA (OR: 3.28, 95% CI 1.55-6.95, P < 0.01) and Hurley classification (OR: 3.22, 95% CI 1.34-7.31, P < 0.01). Although severity of HS is similar between the sexes, the localization of lesions is different.

The constellation of dietary factors in adolescent acne: a semantic connectivity map approach.

BACKGROUND: Different lifestyle and dietetic factors have been linked with the onset and severity of acne. OBJECTIVE: To assess the complex interconnection between dietetic variables and acne. METHODS: This was a reanalysis of data from a case-control study by using a semantic connectivity map approach. 563 subjects, aged 10-24 years, involved in a case-control study of acne between March 2009 and February 2010, were considered in this study. The analysis evaluated the link between a moderate to severe acne and anthropometric variables, family history and dietetic factors. Analyses were conducted by relying on an artificial adaptive system, the Auto Semantic Connectivity Map (AutoCM). RESULTS: The AutoCM map showed that moderate-severe acne was closely associated with family history of acne in first degree relatives, obesity (BMI ≥ 30), and high consumption of milk, in particular skim milk, cheese/yogurt, sweets/cakes, chocolate, and a low consumption of fish, and limited intake of fruits/vegetables. CONCLUSION: Our analyses confirm the link between several dietetic items and acne. When providing care, dermatologists should also be aware of the complex interconnection between dietetic factors and acne.

Clinical, ultrasound, and videodermatoscopy monitoring of psoriatic patients following biological treatment.

BACKGROUND AND PURPOSE: Effective non-invasive techniques to monitor plaque psoriasis progression and treatment are desirable. The aim of the study was to evaluate changes in vascular pattern using videodermatoscopy (VD) and in skin thickness by ultrasound (US), along with clinical observation, during treatment with biologicals. METHODS: Forty-two patients with moderate-to-severe plaque psoriasis treated with adalimumab, etanercept, or ustekinumab were evaluated. Following the identification of a 'target' plaque at baseline, lesion changes were monitored at 15, 30 and 60 days by clinical observation using a Target Lesion Score (TLS), and by VD and US. RESULTS: After 60 days, a significant improvement in all three parameters was observed. In adalimumab-treated patients mean values of TLS, VD, and US were reduced by 83.9%, 73.5%, and 90%, respectively; in etanercept-treated patients by 67.9%, 49.7%, and 79.3%; in ustekinumab-treated patients by 80.9%, 66.4%, and 80.1%. Skin thickness was the first parameter to improve. Vascular improvement was slower compared to clinical and US responses. CONCLUSION: VD and US may be useful to monitor psoriasis treatment. Further investigations are warranted to assess if the persistence of an altered vascular pattern despite clinical and US normalization, as observed in 22% of patients, may influence disease progression and/or correlate with rate and severity degree of relapse.

Investigating psoriasis awareness among patients in Italy: validation of a questionnaire.

OBJECTIVE: Psoriasis can have a profound impact on quality of life (QoL) and an awareness of the processes of the disease and its treatment is important in coping with symptoms. Patients do not always understand the potential consequences of their disease and the wide range of effective treatment strategies now available. We designed and validated a questionnaire to investigate patient awareness and understanding of psoriasis including pathogenesis, diagnosis, prognosis and treatment. PATIENTS AND METHODS: This was a multicentre, cross-sectional investigation involving 14 psoriasis referral centres in Italy. The focus group technique was used by a panel of experts in psoriasis, to draw-up a list of questions exploring pathogenesis, diagnosis, prognosis, factors influencing clinical course of psoriasis as well as QoL issues and sources of information on their condition. Psychometric properties of the questionnaire were tested on a sample of 240 adult patients with psoriasis (including treatment-naïve and -experienced patients). RESULTS: The mean age of patients was 50.3±14.9 years and 34.2% were female. The median time from diagnosis was 13.7 years (IQR 7.3-23.2). The Cronbach alpha was 0.77 and all items showed higher correlations within their own dimensions than to other dimensions. Each domain of awareness was well represented by a single dimension. Mean overall awareness was 59.7±13.1 on a 100-point scale. CONCLUSIONS: Our questionnaire was valid in assessing patient awareness in five relevant areas of psoriasis, and can be useful in both the clinical setting and research studies to evaluate patients' knowledge of psoriasis better, with the final aim of reducing the burden of this chronic condition.

Combined clinical, capillaroscopic and ultrasound evaluation during treatment of plaque psoriasis with oral cyclosporine.

Imaging techniques have only recently been utilized in combination with clinical observation to objectively quantify psoriasis severity and evaluate therapeutic response. This study evaluated the sensitivity of videodermatoscopy (VD) and ultrasound (US) imaging to assess the therapeutic effect of cyclosporine (Cs) in patients with moderate-to-severe psoriasis. Twenty patients with moderate-to-severe psoriasis were divided into two groups (A and B) based on PASI score. Group A (PASI greater than 16) was treated with 5 mg/Kg/day Cs for 4 weeks and another 4 weeks with 3 mg/Kg/day Cs. Group B (PASI 10-16) received 3 mg/Kg/day Cs for 8 weeks. A target plaque was selected for each subject and evaluated using a Target Lesion Score (TLS) for erythema, scaling and degree of infiltration, in addition to VD and US at baseline, 2, 4 and 8 weeks. At the end of the study, improvement rate was quicker in group A vsgroup B after 8 weeks of Cs therapy. All three parameters (TLS, VD and US) strongly correlated with one another. Skin thickness was the first parameter that improved, followed by TLS. In contrast, improvement in VD was delayed. Normalization rate of vascular pattern (assessed by VD) was low in both groups but higher in group A vs group B (46 vs 22 percent), despite virtually complete normalization by clinical and US assessment. In conclusion, while both TLS and US can be utilized in the evaluation of therapeutic efficacy in patients with plaque psoriasis, VD can provide information on vascular response to treatment, which may likely affect the duration of therapy and the relapse rates.

Two pediatric cases of pyogenic granuloma treated with imiquimod 5% cream: combined clinical and dermatoscopic evaluation and review of the literature.

Pyogenic granuloma (PG), also referred to as lobular capillary hemangioma, is a common, benign vascular proliferation of skin and/or mucous membranes, occurring most frequently in children and young people. First line therapy of PG consists of surgical excision. Alternative treatments such as curettage, cauterization, laser therapy and cryotherapy may require multiple sessions, pose unwanted complications and have the highest rate of recurrence. Imiquimod (IQ) 5% cream is a synthetic imidazoquinolin heterocyclic amine that enhances, through cytokine induction, both the innate and acquired immune pathways, resulting in immunomodulating, antiviral and antitumor effects; it is currently used in adults in the treatment of various skin disorders. Definitive data on its efficacy and safety on pediatric age groups are not established, but there are different case reports about its use in the treatment of molluscum contagiosum, ano-genital warts, haemangiomas and, recently, PG with 12 cases reported in literature. We report our experience on the use of topical IQ 5% cream in two cases of PG occurring in pediatric patients, with complete resolution of clinical and dermatoscopic features.

Psodisk, a new visual method for assessing the burden of psoriasis on patients.

BACKGROUND: The last decades have witnessed an increasing interest for the psychosocial aspects of chronic skin diseases, such as psoriasis. Nonetheless, systematic assessments of the impact of psoriasis on patients' lives are rarely done in daily clinical practice. The existing instruments are mostly meant to be completed by patients alone, and rarely comprise a graphical representation of the results. OBJECTIVE: To develop a questionnaire allowing both a quick assessment of the impact of psoriasis on patients and, at the same time, an intuitive graphic visualization of the outcome of the test. METHODS: A preliminary version of an Italian questionnaire aimed to assess the global impact of psoriasis on patients, meant to be filled in together by the patient and the dermatologist and to produce visual, intuitive results, was developed through focus groups. The instrument was then the object of a Delphi survey addressed to a panel of experts, to assess both the need of possible improvements of the questionnaire (in terms of the formulations of the questions and of the domains to be explored) and the usefulness of the questionnaire. RESULTS: A 10-item questionnaire in Italian, taking into account different aspects of the burden of psoriasis on the patient, was developed. The answers are given on a 10-point visual analogue scale and graphically represented on a disc as a polygon. CONCLUSIONS: A formal validation of the questionnaire and a study to assess potential clinical and psychological benefits of a systematic implementation of the instrument in daily practice are planned.

Infantile haemangiomas: a challenge in paediatric dermatology.

Infantile haemangiomas, common benign vascular tumours of childhood, are characterized by rapid growth during the first year of life and a slow regression that is usually completed at 7-10 years of age. These tumours are composed of endothelial cells with high mitotic rates and stromal components such as fibroblasts, mast cells and pericytes. Haemangiomas become a challenge when they are part of a syndrome, are located in certain areas of the body or when complications develop. The above-mentioned factors also influence the treatment modality used. However, although there remain many uncertainties regarding management, the beta-adrenergic receptor blocker propranolol is a promising new candidate for first-line systemic therapy. It produces such a dramatic and rapid response that the appearance of an infantile haemangioma should impart expeditious consideration of the risks and benefits of its use.

Dermatofibrosarcoma protuberans.

Dermatofibrosarcoma protuberans (DFSP) is a relatively unusual, locally aggressive cutaneous tumor of intermediate malignancy, that most frequently occurs with a slight predominance in young adult men on the trunk and proximal extremities. It arises from the dermis and invades deeper subcutaneous tissues (fat, fascia, muscle, bone), but, despite its local invasiveness, it rarely metastasizes (5% of cases). Currently, the cause of DFSP is unknown. A 54-year-old woman presented with an asymptomatic, red-violaceous ovalar plaque on the left submammary area. The lesion had sharply delineated borders and showed two overlying hanging outgrowths, one smooth and flesh colored and the other reddish and with a cobblestone appearance. Histological and immunohistochemical studies confirmed the diagnosis of DFSP. This unusual presentation of DFSP is presented and discussed.

Treatment of an extensive superficial basal cell carcinoma of the face with imiquimod 5% cream.

The efficacy and safety of imiquimod, an immune-response modifier approved for the treatment of anogenital warts that has antiviral and antitumor activity, in the management of an extensive superficial basal cell carcinoma (sBCC) of the face as an alternative to surgical treatment was evaluated in a 75-year-old male with a 4-year history of a progressively enlarging lesion located on the right temporal region. Imiquimod 5% cream was applied daily until clinical resolution. Histopathological confirmation of clinical diagnosis and of tumor clearance were performed before starting treatment and at the end of treatment, respectively. Moreover, monthly post-treatment follow-up visits were planned. At physical examination, an ovalar, erythematous and slightly infiltrated plaque of 5 x 4 cm in size (approximately 20 cm2), partly eroded and crusted, with a sharp, raised, pearly edge, was evident on the right temporal region of the patient. Histopathological examination of a biopsy specimen showed the typical features of sBCC. Imiquimod 5% cream applied daily for 5 months produced complete clinical and histological clearance. No adverse events but considerable irritation were reported during treatment and no relapses were clinically observed at the 6-month follow-up visit. Our findings confirm current reports from the literature showing imiquimod 5% cream to be an effective treatment for sBCC that is especially valuable in avoiding disfigurement in cases of single large lesions located on the face or in those patients who may not be surgical candidates.

Topical immunomodulator therapy with squaric acid dibutylester (SADBE) is effective treatment for severe alopecia areata (AA): results of an open-label, paired-comparison, clinical trial.

UNLABELLED: Severe alopecia areata (AA) may have a chronic relapsing course and is often resistant to current treatments. OBJECTIVES: The aim of our study was to evaluate whether topical immunotherapy with squaric acid dibutylester (SADBE) is able to improve the course of severe AA and to reduce the severity of relapses. METHODS: Fifty-four patients affected by severe AA treated with SADBE who were followed for a period of at least 2 years were selected as the study group. Data collected were compared with those of a matched control group of 54 patients who did not receive any treatment. Student's t-test, analysis of variance (ANOVA) and Pearson's chi-squared test were utilized for data analysis. RESULTS: At the end of therapy, in comparison with the control group, the treatment group showed a statistically significant (p < 0.001) improvement. At follow-up, there was no significant change in relapse rate (treated 44% vs control 52%). However, relapses in the treated group were significantly less severe compared with the control group (p < 0.001). CONCLUSIONS: Our data suggest that topical SADBE represents a valid therapeutic option in severe AA, and may prove to be disease modifying.

Elastosis perforans serpiginosa in an adult with Down's syndrome: report of a case with symmetrical localized involvement.

Elastosis perforans serpiginosa (EPS) is a rare perforating dermatosis in which elastic fibers extrude from the papillary dermis producing umbilicated papules, characteristically arranged to form arciform or serpiginous patterns on the skin. It can be observed in patients with Down's syndrome, in whom in some cases the disease has been reported to be more widespread and to run a longer course. We present the case of a 20-year-old girl with Down's syndrome, hypothyroidism, acne and hypertrichosis, who had a 2-year history of multiple atrophic lesions with an arciform pattern on the distal extensor portions of both thighs, histologically showing the typical features of EPS.

High-magnification videodermatoscopy: a new noninvasive diagnostic tool for scabies in children.

A study of 100 children suspected of having scabies was carried out using high-magnification (HM) videodermatoscopy as the only diagnostic tool. HM videodermatoscopy reaches magnifications of up to 600x and allows a detailed inspection of the skin. Rapid and clear identification of mites, migration burrows, eggs, and feces was obtained in 62 of 100 patients. None of the 38 patients with negative findings showed any sign of infestation 2 weeks later. HM videodermatoscopy is rapid, effective, and sensitive, especially in those cases with nonspecific clinical features, and allows clear detection of diagnostic details usually not appreciable at lower magnifications. It has high specificity, with no chance of false-positive results, and being noninvasive, it eliminates the risk of accidental infections. Finally, the most important advantage in children is its high compliance rate, as it does not cause pain or physical or psychological discomfort. It may be used for primary diagnosis as well as for posttherapeutic follow-up and for screening of family members, thus reducing the risk of persistence and diffusion of the infestation.