Vitamin D in trichology: a comprehensive review of the role of vitamin D and its receptor in hair and scalp disorders.

Vitamin D plays an important role in maintaining the homeostasis of various biological systems. Beside its well-known function in calcium and phosphate metabolism, it plays a major role in pathophysiology of skin and adnexa. Indeed, vitamin D, through its receptor (VDR), decreases keratinocyte proliferation, improves their differentiation and modulates both cutaneous innate (antimicrobial activity and antigen presentation) and adaptative immunity (T and B lymphocyte function).

Inframammary Dermatitis: A Case of Localized Late-Onset Darier's Disease.

Darier's disease (DD) is an autosomal dominant inherited genodermatosis which is often under- or misdiagnosed. In the majority of cases, the disease manifests in adolescents or young adults with small brownish-yellow, warty, hyperkeratotic papules in multiple seborrheic areas of the body. Localized DD (LDD) is a clinical variant, first described by Kreibich in 1906; only a few cases are reported in the literature.

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme, which leads to the accumulation of its substrate, the globotriaosylceramide or Gb3, in many organs and tissues. Main clinical manifestations of FD are neuropathic pain, angiokeratomas, proteinuria and renal failure, left ventricular hypertrophy and stroke. Fever is also a possible symptom at the onset of the disease during childhood and adolescence, but it is frequently misdiagnosed, causing a delay in FD diagnosis.

Inverse psoriasis.

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Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study.

Background: Myotonic dystrophy type 1 (MD1) is reported to be associated with internal malignancies. The association of myotonic dystrophy with cutaneous tumors is not fully understood.

Objective: We sought to explore the total nevi count and the presence of atypical nevi, cutaneous melanoma, and other skin neoplasms in a representative cohort of patients with MD1 and to compare the findings with age- and sex-matched control subjects.

Dermoscopy of melanocytic lesions in patients affected by oculocutaneous albinism: a case series.

Background: Although the majority of skin cancers in albino patients consists of squamous and basal cell carcinomas, malignant melanomas have also been described, albeit less frequently.

Objective: The aim of our study was to evaluate melanocytic lesions in albino patients to look for any recurrent dermoscopic pattern.

Methods: We enrolled 12 consecutive albino patients presenting to our department and examined each patient for the presence of melanocytic nevi with the unaided eye and then with dermoscopy.

Acquired epidermodysplasia verruciformis: a comprehensive review and a proposal for treatment.

Background: Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by immunologic abnormalities, disseminated human papilloma virus infection, and early development of skin cancers. Acquired forms have been rarely reported and usually occur with immunosuppression. The therapeutic management of the acquired forms is not standardized, and several therapies have been tried, with variable outcomes.

Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.

Introduction: Fabry disease is an X-linked inherited metabolic disorder characterized by the deficiency of lysosomal α-galactosidase A enzyme. This leads to the accumulation, into lysosomes through the body, of glycosphingolipids, mainly Gb3. Skin involvement and progressive multi-organ failure are usually observed.

Alteration of cholinergic system in keratinocytes cells produces acantholysis: a possible use of cholinergic drugs in pemphigus vulgaris.

Human epidermis shows a non-neuronal cholinergic system including keratinocyte (kc) acetylcholine (Ach) axis which is composed by enzymes and two families of Ach receptors (muscarinic and nicotinic receptors). The activity of these two receptors can regulate the interkeratinocytes and kcs-extracellular matrix adhesion modifying the regulation of intercellular adhesion molecules like cadherins and integrins. Some authors demonstrate that acantholysis in pemphigus depends not only on anti desmogleins antibodies (abs) (mostly IgG) but even on other abs directed against kc membrane antigens (e.

Coping strategies in melanoma patients.

An observational, questionnaire-based, cross-sectional study was performed to assess whether differences in coping behaviour (positive and negative strategies) between patients with either a recent diagnosis of malignant melanoma (MM) or with benign dermatological disease, were predictive of the diagnosis. Coping strategies were assessed with the German version of the stress-coping questionnaire (SVF 120) in 46 inpatients for whom surgery was planned at the Department of Dermatology, Medical University of Graz, Austria. Subjects were divided into two groups: patients with non-metastatic MM, and patients with benign dermatological diseases (controls).

Ocular mucous membrane pemphigoid after Lyell syndrome: occasional finding or predisposing event?

Purpose: Ocular mucous membrane pemphigoid (OMMP) is an autoimmune disease involving the eye and characterized by subepithelial detachment resulting from an immunologic reaction against conjunctival basal membrane zone (BMZ) antigens. Lyell syndrome (LS) is a drug-induced, T cell-mediated, cytotoxic reaction involving the mucocutaneous areas. Two patients with LS are presented in whom OMMP developed.

Modelling the resource implications of managing adults with Fabry disease in Italy.

Aims: This study estimated the resource implications and budget impact of managing adults with Fabry disease in Italy, from the perspective of the Servizio Sanitario Nazionale (SSN).

Methods: A decision model was constructed using published clinical outcomes and clinician-derived resource utilisation estimates depicting the management of adults with Fabry disease in Italy.

Results: The expected annual cost of managing 220 existing and 20 new Fabry patients in Italy was estimated to be €28·3 million.

Psoriatic Pseudobalanitis Circinata as a Post-Viral Koebner Phenomenon.

In the absence of any other lesions on the body, the diagnosis of localized genital psoriasis can be difficult, requiring further examinations including a biopsy. We report a case of psoriatic pseudobalanitis circinata triggered by a herpes virus infection, and we discuss the Koebner phenomenon and the therapeutic management of psoriasis of the genital area.

Updated review of the pathogenesis and management of Merkel cell carcinoma.

Background: Merkel cell carcinoma is a rare, aggressive, malignant cutaneous tumor of the elderly or immunosuppressed individuals that usually appears on sun-exposed areas of the body. Its pathogenesis is still debated, and, currently, no standardized treatment exists.

Objective: To provide a current updated review of the most relevant data concerning the pathogenesis and management of Merkel cell carcinoma.

Exercise-induced rhabdomyolysis and transient loss of deambulation as outset of partial carnitine palmityl transferase II deficiency.

We report the case of a 13-year-old boy with an abrupt onset of leg pain and muscle weakness, incapability of deambulation and a laboratory picture of exercise-induced acute rhabdomyolysis. Intravenous hyperhydration and forced diuresis were adopted to avoid renal complications. No evidence of articular or residual muscular damage was appreciated in the short-term.

Longitudinal study of microvascular involvement by nailfold capillaroscopy in children with Henoch-Schönlein purpura.

The aim of this study is to describe by video-nailfold capillaroscopy the microvascular involvement and capillary changes in children with Henoch-Schönlein purpura (HSp) and to establish a possible correlation with clinical outcome. Thirty-one patients underwent capillaroscopic evaluation through a videomicroscope during the acute phase and after 6 months. Twenty sex/age-matched controls were also examined.

Topical preparations for the treatment of psoriasis: results of a retrospective study over 15 years.

Background: Psoriasis requires lifelong treatments that depend on the extent, clinical forms and associated conditions.

Objective: To retrospectively analyze which topical treatments were used, their efficacy, and potential advantages and disadvantages.

Methods: A total of 666 patients admitted for the first time over 15 years who were topically treated were retrospectively reviewed and subdivided using clinical forms and PASI into four groups and four subgroups for the applied treatments.

Management and dermoscopy of fast-growing nevi in pregnancy: case report and literature review.

Background: The relationship between pregnancy and a change in melanocytic nevi is still controversial. Moreover, management of the rapid evolution of a nevus in an unauspicious melanocytic lesion can be a clinical challenge in pregnancy.

Methods: This article examines a case of a fast-growing deep penetrating nevus in a pregnant woman and provides a literature review of articles relative to pregnancy and nevi change, the management of fast-growing pigmented lesions, and the role and usefulness of dermoscopy in these cases.

Nail psoriasis: combined therapy with systemic cyclosporin and topical calcipotriol.

Background: Nail psoriasis is a common problem in psoriatic patients and often it is difficult to cure. Several treatments have been proposed in the last decade using new molecules like vitamin-D analog and/or immunosoppressive drugs both systemically and locally.

Objective: Our goal was to evaluate a combination of cyclosporin and topical calcipotriol cream versus cyclosporin alone in a matched group of patients treated with cyclosporin alone.