Maria Antonietta Montesu

In situ study of chemokine and chemokine-receptor expression in Kaposi sarcoma.

Tissue expression of CC and CXC chemokines and chemokine receptors was investigated in 6 cases of classic non-AIDS Kaposi sarcoma (KS) using immunohistochemistry and RNase protection assay (RPA). Immunostaining of frozen sections of KS skin biopsies revealed that KS spindle cells express several chemokine receptors. In KS nodules, almost all KS spindle cells were intensely stained for CXCR4 and CCR5. Other chemokine receptors as CCR1, CXCR3, and CCR2 were also detected in the large majority of KS spindle cells. A minority of KS spindle cells also expressed the fractalkine receptor (FK-R) CX3CR1.The immunohistochemical findings were confirmed at RNA level. In fact, the RNase protection assay (RPA) revealed in 6 of 6 cases the presence of consistent amounts of mRNAs for CXCR4 and CCR1 and in 5 of 6 cases also for CCR5 and CXCR3.Expression of chemokine receptors by KS cells was associated with chemokine production within the lesions. In the same cases, RPA demonstrated the presence of mRNAs for MCP-1, RANTES, IP-10, MIP-1&agr;, and MIP-1&bgr;. Chemokine-producing cells, as detected by immunohistochemistry, were mainly spindle-shaped cells resembling tissue macrophages outside KS lesions and some scattered cells (<5%) present within KS nodules.The demonstration of chemokine receptors in KS cells raises the possibility that recruitment of KS cells in response to locally produced chemotactic stimuli may be one of the events involved in the pathogenesis of Kaposi sarcoma.

Environmental Factors Influence the Rate of Human Herpesvirus Type 8 Infection in a Population with High Incidence of Classic Kaposi Sarcoma

High prevalence of human herpesvirus type 8 (HHV-8) infection has been reported on the island of Sardinia. Among emigrants from Sardinia, rates of HHV-8 infection are lower than they are in Sardinia and are similar to those observed in the local population. Thus, environmental factors seem to play a relevant role in affecting the prevalence of HHV-8 infection.

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

BACKGROUND Lipodystrophies are a large heterogeneous group of genetic or acquired disorders characterized by generalized or partial fat loss, usually associated with metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic steatosis. Many efforts have been made in the last years in identifying the genetic etiologies of several lipodystrophy forms, although some remain to be elucidated. METHODS We report here the clinical description of a woman with a rare severe lipodystrophic and progeroid syndrome associated with hypertriglyceridemia and diabetes whose genetic bases have been clarified through whole-exome sequencing (WES) analysis. RESULTS This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome) patient with the same de novo p.S605del mutation in POLD1. We provided further genetic evidence that this is a disease-causing mutation along with a plausible molecular mechanism responsible for this recurring event. Moreover we overviewed the current classification of the inherited forms of lipodystrophy, along with their underlying molecular basis. CONCLUSIONS Progress in the identification of lipodystrophy genes will help in better understanding the role of the pathways involved in the complex physiology of fat. This will lead to new targets towards develop innovative therapeutic strategies for treating the disorder and its metabolic complications, as well as more common forms of adipose tissue redistribution as observed in the metabolic syndrome and type 2 diabetes.

Idiopathic facial aseptic granuloma: case report and literature review

Idiopathic facial aseptic granuloma (IFAG) is a skin disease that has been described extensively in the French literature as a childhood-specific disorder. Originally, the disease was described as pyoderma froide, a designation that refers to modest clinical signs of inflammation, but the term was later replaced with the acronym IFAG. Clinically, IFAG presents with one or more papules or nodules located on the face, both monoand bilaterally, and lasts for at least 1 month. It is located within a triangle, the vertices of which are represented by the labial commissure, the earlobe, and the outer canthus. The lesions are asymptomatic, of hard and elastic consistency and vary in size, and in some cases tend toward colliquation. There are no accompanying blackheads, telangiectasia, or pilar keratoses. Histologically, the disease presents with diffuse inflammation of histiocytic granuloma in the midand deep dermis, numerous or scattered giant cells, and areas of abscess formation. Residues of follicles are observed occasionally within inflammatory infiltrate. Special and histochemical stains, such as periodic acid–Schiff (PAS), Grocott, Giemsa, and Ziehl–Neelsen stains, are negative. Culture tests in specific media (L€ owenstein–Jensen medium, Sabouraud agar) performed on purulent material or small-piece biopsies show no growth of bacteria, fungi, or mycobacteria. There are no common predisposing factors, family history, or associated clinical features, including satellite lymph nodes. Herein, we present a peculiar case of extensive IFAG.

Cutaneous T pseudolymphoma on the red pigmented areas of a tattoo

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Early psoriatic arthritis in psoriatic patients: risk factors and screening for rheumatological evaluation

key amplifiers of psoriasis. J Eur Acad Dermatol Venereol 2017; 31: 672–678. 4 Gabr SA, Berika MY, Alghadir AH. Apoptosis and clinical severity in patients with psoriasis and HCV infection. Indian J Dermatol 2014; 59: 230–236. 5 Patel P, Malik K, Krishnamurthy K. Cutaneous adverse events in chronic hepatitis C patients treated with new direct-acting antivirals: a systematicreview and meta-analysis. J Cutan Med Surg 2016; 20: 58–66. 6 Yu ML, Hepatitis C. Treatment From “Response-guided” to “Resource-guided”therapy in the transition era from IFNcontaining to IFN-free regimens. J Gastroenterol Hepatol 2017; 32: 1436–1442. 7 Heppt F, Sticherling M. Psoriasis as a manifestation of an immune reconstitution in two patients with hepatitis C treated with Ledipasvir/Sofosbuvir. Acta Derm Venereol 2017; 97: 526–527. 8 Wang Y, Liu P. A case of erythema multiforme drug eruption associated with erythrodermic psoriasis induced by sofosbuvir and daclatasvir. J Clin Pharm Ther 2017; 42: 108–110. 9 Meissner EG, Kohli A, Higgins J, et al. Rapid changes in peripheral lymphocyte concentrations during interferon-free treatment of chronic hepatitis C virus infection. Hepatol Commun 2017; 1: 586–594. 10 NajafiFard S, Schietroma I, CoranoScheri G, et al. Direct-acting antiviral therapy enhances total CD4 + and CD8 + T-cells responses, but does not alter T-cells activation among HCV mono-infected, andHCV/HIV-1 co-infected patients. Clin Res Hepatol Gastroenterol. 2017. https://doi.org/10.1016/j.clinre. 2017.11.006

Malignancy‐associated generalized perforating granuloma annulare

Granuloma annulare (GA) is a benign, granulomatous disease with several variants, including localized, generalized, subcutaneous, patch, papular, linear and perforating forms. The generalized variant of GA os associated with diabetes mellitus, hyperlipidaemia, autoimmune thyroiditis, and rarely with human immunodeficiency virus (HIV) infection, solid tumours and lymphomas. Perforating GA (PGA), first described by Owens and Freeman in 1971, constitutes only 5% of all forms of GA. Although PGA has been sporadically described in association with diabetes mellitus, tuberculosis, rheumatoid arthritis, HIV/acquired immunodeficiency syndrome and herpes zoster infection, there is no report of a paraneoplastic link between PGA and malignancies. We present a case of malignancy-associated PGA ‘generalized type’ as the first manifestation of multiple myeloma. A 70-year-old man presented with an itchy papular eruption spreading all over his body. His medical history included monoclonal gammopathy of undetermined significance (MGUS), diagnosed 3 years previously. On physical examination, multiple, isolated, pinkish, umbilicated papules 5 mm in diameter were seen on the patient’s body, localized to the trunk, limbs, flexural areas, hands and feet, and sparing the head and face (Fig. 1a,b). Some papules were surmounted by a yellowish scaly crust, producing a pseudopustular appearance. Histopathology of a skin lesion showed a granulomatous infiltrate composed of lymphocytes, histiocytes

Second primary melanoma on a patient undergoing vemurafenib therapy. A case report

Several side effects have been reported during treatment with vemurafenib, including multiple benign lesions and, less frequently, atypical melanocytic proliferations and second primary melanomas.

Extragenital human papillomavirus 16-associated bowen's disease

We describe a case of a 67-year-old male with multiple erythematous, hyperkeratotic, and ulcerated lesions that occurred 10 years before patient’s observation, increasing in size and number over the years. Particularly, the widest lesion is hyperkeratotic and exudative plaque on the trunk, focal ulcerated, sized 11 cm × 8 cm [Figure 1]. Other lesions were observed on the trunk and ears. However, human papillomavirus (HPV)-related lesions were never detected on genitalia and the patient denied chronic ultraviolet and arsenic exposure.