Arianna Zanca

A new approach for presurgical margin assessment by reflectance confocal microscopy of basal cell carcinoma.

Surgical excision represents the most common elective treatment for basal cell carcinoma (BCC). Several noninvasive approaches have been proposed for in vivo determination of tumour margin, in order to achieve radical removal.

In vivo reflectance confocal microscopy features of cutaneous microcirculation and epidermal and dermal changes in diffuse systemic sclerosis and correlation with histological and videocapillaroscopic findings

BackgroundVideocapillaroscopy of the nail fold is the current gold standard to assess progressive changes of the capillary network in patients with systemic sclerosis (SSc). Reflectance confocal microscopy (RCM) is a non-invasive optical imaging tool that allows in vivo visualization of the skin structures and cutaneous microcirculation.ObjectiveTo investigate qualitative and quantitative changes of the cutaneous microcirculation and dermal-epidermal alterations of SSc patients by RCM and to correlate the images with findings of videocapillaroscopy and histology.MethodsTen patients affected by diffuse-type SSc with skin involvement and 10 healthy controls were enrolled. All subjects underwentRCMof the dorsal and ventral surfaces of the middle third of the left forearm and nailfold videocapillaroscopy. Skin biopsies for histological and immunohistochemical investigations were taken from 5 patients and 2 healthy controls.ResultsAtRCMobservation, the diameter, perimeter and area of cutaneous capillaries were significantly increased in comparison to healthy controls, as histologically confirmed, whereas blood flow speed was significantly slower. Videocapillaroscopy showed a pathologic pattern of disease activity in 8 SSc patients and was non-specific in the remaining 2. In addition, RCM showed epidermal atrophy, flattening of rete ridges and dermal fibrosis in 7 SSc patients with long-standing disease but not in 3 patients with a recent onset.ConclusionsRCM provides measurable morphological and functional findings of microcirculation in patients suffering from diffuse-type SSc. These findings can integrate with, but not substitute, those provided by standard videocapillaroscopy. In addition, unlike videocapillaroscopy, RCM allows the investigation of epidermal and dermal changes.

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients

Classical Ehlers‐Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision. However, the diagnostic flow‐chart that prompts molecular testing is still based on experts’ opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosal, facial, and articular manifestations. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age. In our cohort, we did not observe any mandatory clinical sign. Skin hyperextensibility plus atrophic scars was the most frequent combination, whereas generalized joint hypermobility according to the Beighton score decreased with age. Skin was more commonly hyperextensible on elbows, neck, and knees. The sites more frequently affected by abnormal atrophic scarring were knees, face (especially forehead), pretibial area, and elbows. Facial dysmorphism commonly affected midface/orbital areas with epicanthal folds and infraorbital creases more commonly observed in young patients. Our findings suggest that the combination of ≥1 eye dysmorphism and facial/forehead scars may support the diagnosis in children. Minor acquired traits, such as molluscoid pseudotumors, subcutaneous spheroids, and signs of premature skin aging are equally useful in adults.

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.

Classical Ehlers–Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non‐glycine residue in one Gly‐Xaa‐Yaa repeat of the pro‐α1(I)‐chain p.(Arg312Cys), which leads to disturbed collagen fibrillogenesis due to delayed removal of the type I procollagen N‐propeptide. This specific mutation has been associated with propensity to arterial rupture in early adulthood; indeed, in literature the individuals harboring this mutation are also referred to as “(classic) vascular‐like” EDS patients. Herein, we describe a three‐generation cEDS family with six adults carrying the p.(Arg312Cys) substitution, which show a variable and prevalent cutaneous involvement without any major vascular event. These data, together with those available in literature, suggest that vascular events are not a diagnostic handle to differentiate patients with the p.(Arg312Cys) COL1A1 mutation from those with COL5A1 and COL5A2 defects, and highlight that during the diagnostic process the presence of at least the p.(Arg312Cys) substitution in COL1A1 should be investigated in cEDS patients without type V collagen mutations. Nevertheless, for these patients, as well as for those affected with cEDS, a periodical vascular surveillance should be carried out together with cardiovascular risk factors monitoring.

Oral Polypodium leucomotos increases the anti‐inflammatory and melanogenic responses of the skin to different modalities of sun exposures: a pilot study

The effects on the inflammatory and tanning responses of sunlight/UVR of several oral antioxidants are still unknown.

Serum levels of tumor necrosis factor-alpha in patients with psoriasis before, during and after narrow-band UVB phototherapy

BACKGROUND Narrow-band UVB (NB-UVB) phototherapy is widely used worldwide for moderate and severe psoriasis, which is a chronic autoimmune inflammatory disease characterized by skin infiltrates of Th1-, Th17- and Th22-cells releasing locally pro-inflammatory cytokines. We investigate serum levels of tumor necrosis factor-α (TNF-α) in psoriatic patients before and after NB-UVB phototherapy. METHODS Twenty-eight subjects with moderate/severe plaque type psoriasis were enrolled. The severity of skin involvement was rated according to the Psoriasis Area and Severity Index (PASI) score at baseline (T0) and after 4 (T1) and 12 (T2) weeks of NB-UVB treatment. At the same time points, blood samples were taken for evaluation of TNF-α levels. NB-UVB phototherapy was administered twice weekly on non-consecutive days until 12 weeks. RESULTS The median PASI score significantly decreased from 12.0 at baseline (T0), to 6.9 after 4 weeks (T1, P<0.001) and to 0 after 12 weeks (T2, P<0.001). TNF-a serum levels significantly increased in respect to the baseline after 12 weeks of therapy. CONCLUSIONS NB-UVB phototherapy is highly effective against psoriasis but, as it increases the TNF-α serum level, it seems unlikely that it can decrease the chronic inflammatory state that is thought to be responsible of the systemic co-morbidities of psoriasis.

Pigmented actinic lichen planus (PALP) mimicking lentigo maligna melanoma: Usefulness of in vivo reflectance confocal microscopy in diagnosis and follow-up

ALP: actinic lichen planus MART-1: melan-A positivity PALP: pigmented actinic lichen planus RCM: reflectance confocal microscopy SPF: sun protection factor UV: ultraviolet CASE REPORT A 40-year-old white man was referred to our clinic for an asymptomatic pigmented patch on his right cheek for 2 months that did not have seasonal variation. Clinically, the lesion was a slightly and irregularly pigmented patch of about 6 3 3 cm (Fig 1). The patient had no history of trauma or sunburn; no drugs were taken in the previous months. Dermoscopic examination (Fig 1) found diffuse peppering, some hair follicles with central black dots (also known as isobar sign) and some hyperpigmented follicular openings; all these features suggested a diagnosis of lentigo maligna melanoma. A reflectance confocal microscopy (RCM) evaluation found spongiotic epidermis with exocytosis at the granulosum/spinosum layer and a mixed cell population composed of numerous pleomorphic cells (with enlarged refractile cytoplasm and evident dark nucleus) corresponding to melanocytes. These melanocytes were associated with plump, bright round to polygonal non-nucleated cells corresponding to melanophages and lymphocytes located at dermoepidermal junction level (lichenoid disposition). Small bright stellate cells corresponding to inflammatory cell infiltration were observed with adnexal disposition. Horizontal blood vessels,

Prevalence of Phototherapy in the Age of Biologics

Background: The prevalence of narrow-band ultraviolet B (NB-UVB) use in Europe for moderate and severe psoriasis is unknown, because national registries for psoriasis do not monitor this treatment. Objectives: To quantify the use of phototherapy, biologics or conventional treatments in psoriasis, in a setting where European Medicines Agency (EMA) eligibility criteria for biologics were strictly applied, and phototherapy was included among first-line treatments. Methods: We followed a cohort of 1,090 patients who were referred to the only centre entitled to prescribe biologics and phototherapy during a 5-year period. Results: The cumulative number of treatment cycles was: 1,047 with NB-UVB phototherapy, 650 with systemic treatments and 239 with biologics; 754 patients received at least 1 course of NB-UVB phototherapy, 422 at least 1 course with a systemic treatment and 137 with a biologic; 595 patients were treated only with phototherapy. Conclusions: Regular use of NB-UVB as first-line treatment for moderate and severe psoriasis and adherence to the EMA eligibility criteria for biologics led to a relatively restricted use of biologics.

Clinical, histological and high-frequency ultrasonographic evaluation (50 MHz) of morphoea treated with ultraviolet A1 phototherapy

There are few studies in the literature correlating the ultrasonographic findings, clinical scoring systems or histological findings in morphoea after ultraviolet (UV)A1 phototherapy.