A novel ABCC6 variant causative of pseudoxanthoma elasticum

Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describetwo siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum. Genetic analysis ofABCC6 revealed a novel homozygous c.4041G > A variant located in the last position of exon 28 that compromises thesplicing donor site, resulting in a shorter messenger RNA. The deletion impairs the nucleotide-binding fold region,which is crucial for ABCC6 function

Un nuovo approccio fototerapico alle dermatosi croniche

308-nm excimer light has been shown to be safe and effective in the treatment of a variety of chronic skin diseases. Objectives of this study were to analyse the efficacy of MEL in vitiligo, mycosis fungoides and alopecia areata, and to examine the potential new indication of genital lichen sclerosus, prurigo, nodularis, localized scleroderma and granuloma annulare. 71 patients with common and persistent skin diseases were enrolled in this study: 32 with vitiligo (generalized and acro-facial type); 11 with prurigo nodularis; 9 with mycosis fungoides (MF) stage Ia, 8 with alopecia (2 universalis and 6 areata), 5 with localized scleroderma, 5 with genital lichen sclerosus, and 3 with granuloma annulare. The 308-nm excimer monochromatic non-coherent light was used at a fluence rate of 48 mW/ cm2 with a maximum irradiation area of 512 cm2 at 15 cm from the skin. Starting MED was based on a predetermined MED and subsequent doses according to clinical appearance and treatment response. An average of 12 sessions (from 6 to 18) was performed once weekly (range total dose 4-12.5J/cm2). Clinical response was evaluated using photographs, biopsies and specific clinical score. Follow-up was 6 and 12 months in psoriasis, 12 months in mycosis fungoides and 4 months for all other conditions. We observed complete remission in all patients affected by mycosis fungoides, excellent repigmentation in one third of vitiligo patients, hair re-growth in 3 patients with alopecia areata, an overall improvement in prurigo nodularis, a partial remission in patients affected by localised scleroderma, a complete remission in most patients with genital lichen sclerosus and granuloma annulare. We therefore confirm the use of MEL as a valid choice for the treatment of vitiligo and MF and we report for the first time that MEL produces a therapeutic response in prurigo nodularis, localised scleroderma, genital lichen sclerosus and granuloma annulare. These findings represent an important advance in their treatment suggesting MEL as a valid and new therapeutic optio

New topical treatments for psoriasis

INTRODUCTION: Psoriasis is a common immune-mediated disorder that in 70% of cases appears in mild or mild-to-moderate form. Psoriasis is usually treated with topical medications and/or phototherapy with variable efficacy in controlling the disease. AREAS COVERED: For the past three decades, research has been focused on systemic agents for the treatment of moderate-to-severe psoriasis, particularly with the introduction of biologic agents or 'small molecules'. In parallel, novel advances in topical antipsoriatic agents have been made, experiencing a 'new era', with the development of new formulations and the identification of new therapeutic targets. These agents, having a different spectrum of action from traditional agents, are actually being tested in pre-marketing clinical trials and they may potentially represent promising treatment options that could enlarge the therapeutic armamentarium for the treatment of psoriasis. EXPERT OPINION: Future antipsoriatic topical agents show new modality of action in blocking the pathogenic process leading to psoriatic plaque formation

New topical treatments for psoriasis

Psoriasis is a common immune-mediated disorder that in 70% of cases appears in mild or mild-to-moderate form. Psoriasis is usually treated with topical medications and/or phototherapy with variable efficacy in controlling the disease

Oral lichen planus: Novel acquisitions in the pathogenesis and treatment

Lichen planus (LP) is a mucocutaneous disease of chronic inflammatory nature, commonly seen in dermatological and dental clinics; it is a relatively common disorder of stratified squamous epithelia, frequently exclusively involving the oral cavity. Oral Lichen Planus (OLP) is often asymptomatic, the atrophic-erosive form can cause symptoms ranging from burning sensation to severe pain, interfering with speaking, eating, and swallowing. Lichen planus is regarded as a premalignant lesion. This review discusses the role of hepatitis C virus (HCV), bacterial and fungal infection in LP. Analysing the seroprevalence of HCV infection in LP patients and patients with oral OLP in particular, which was the case in the vast majority of studies, the association varied from 0% to 62% and seemed to be connected to the high HCV seroprevalence in the general population. Candida albicans is present in about 37% of oral LP lesions. The aim of this review is to summarize what is new in the pathogenesis and treatment of OLP

Removal of unwanted hair: efficacy, tolerability, and safety of long-pulsed 755-nm alexandrite laser equipped with a sapphire handpiece.

Due to the difference in refraction coefficients between air and the corneal epithelium, irradiation of the skin with a light source can lead to reflection of the energy and its leakage to the skin causes epidermal injury. All of which decreases the efficacy of treatment. We evaluated cooling sapphire handpieces' efficacy in decreasing pain and epidermal injuries and enhancing the treatment outcome in laser hair removal. A total of 49 patients with Fitzpatrick skin types of II to IV were treated for laser hair removal on face, limbs, inguinal, and axillary areas with pulsed 755-nm alexandrite laser equipped with a sapphire handpiece and the cooling system. Hair counts were performed by two independent observers at the baseline and 3 months after the final treatment. A marked reduction in hair regrowth was noted 3 months after the final treatment in all body locations studied. Clinical hair reduction was observed and fully assessed. There were no serious side effects with an average pain score of 4.6 out of 40. The cooled sapphire cylinder tip has been shown to minimize epidermal injury and reduce the system energy leaks to the skin

Lasers and Excimer Light Sources (Ultraviolet)

Ultraviolet B radiation has been used in the treatment of different immunomediated skin diseases. Different clinical studies reported the use of excimer lasers and lights in a wide variety of chronic and resistant localized dermatoses. These comprise psoriasis, palmoplantar pustulosis, vitiligo, mycosis fungoides, alopecia areata, genital lichen sclerosus, prurigo nodularis, localized scleroderma, and granuloma annulare. Only mild side effects have been reported

Hypodermal Adipose Tissue Sonoelastography for Monitoring Treatment Response in Patients with Plaque Psoriasis

Psoriasis (PsO) is a multifactorial chronic and relapsing skin disease that affects about 125 million people in the world. Several studies have demonstrated the link between adipose tissue, inflammation, and PsO. The purpose of our study is to evaluate hypodermal adipose tissue inflammation underneath PsO plaques quantifying tissue elasticity with sonoelastography before and after treatment. The study was conducted at the Department of Dermatology of the University of ‘‘Rome Tor Vergata’’ and Department of Radiology of the University of ‘‘Rome Tor Vergata.’’ Methods: We enrolled 60 patients with plaque PsO and a PASI score of ‡5 divided in three groups of treatment: biologic drugs therapy (Group A), systemic therapy with DMARDS (Group B), and topic therapy (Group C). Each Patient underwent sonoelastography examination (TE: transient elastography) at baseline (T0) and after 1 month (T1) of treatment. The region of interest (ROI) 5 · 5mm area and the strain ratio was obtained dividing muscular elasticity (referral tissue) by hypodermal elasticity. Results: The difference between T0 and T1 was referred as D strain. Sonoelastography is able to identify hypodermal adipose tissue involvement in plaque PsO and on the basis of our experience it could represent a valid method to assess early therapy response in patient with plaque PsO. Conclusions: This is the first report regarding the use of sonoelastography in psoriatic patients. Sonoelastography is easy to use, rapid, and is a portable technique that does not use ionizing radiation. The result showed the mean lesional strain ratio significantly higher than the nonlesional one at baseline examination. In the future, the role of ultrasound sonoelastography is likely to be complementary to conventional imaging techniques in providing an additional tool