Search

Objective: The aim of this study is to analyse alterations of the tongue and the correlation between these lesions and different types of tumor. Subjects and methods: A total of 258 cases (131 females, 127 males) of neurofibromatosis type 1 were screened between 1994 and 2004 in our Dermatology Department. All patients included in this study have NF1, as defined by the NIH Consensus Conference. Three cases of neurofibromas of the tongue in patients with neurofibromatosis type were reported. Results: Our patients showed nodular lesions on the tongue, related to neurofibromas in two patients and plexiform neurofibroma in one patient, respectively. Clinical and hystopatological findings were useful in distinguishing between neurofibromas and other soft tissue tumors. An increased prevalence of malignancy has been documented in patients affected by neurofibromatosis type 1. Changes in the size of a pre-existing mass, compression, or infiltration of the adjacent structures indicate malignant degeneration. Histological and clinical evaluation should be performed in order to choose the most appropriate treatment strategy for these patients. Conclusion: The oral manifestations of NF are well-documented but may not be at the forefront of the clinician's mind in the differential diagnosis of intra-oral swellings. [ABSTRACT FROM AUTHOR]

Abstract Plasma cell proliferations represent a heterogeneous spectrum of disorders. A 7-year-old Caucasian female had suffered an asymptomatic eruption on the trunk for 4 years. Physical examination revealed a plaque with scattered red–brown papules and nodules. Chemical analysis revealed normal proteinaemia. Histological examination of biopsy specimens showed dense perivascular and periadnexal infiltrate, consisting largely of plasma cells, in the superficial and deep dermis. Immunohistochemical study showed that many cells of the infiltrate were CD20 positive. The plasma cells expressed κ and λ light chains. The girl’s status (age; absence of hypergammaglobulinaemia, lymphadenopathy and hepatosplenomegaly; presence of an infiltrate of mature polyclonal plasma cells restricted only to the skin) differed from those generally seen in diseases with plasma cell proliferation reported in the literature. This case seems unlike any other described up to the present time. [ABSTRACT FROM AUTHOR]

Abstract Objectives To evaluate the relative frequencies and molecular epidemiological features of viral hepatitis types B and C in dermatological patients in our geographical area. Methods We determined the hepatitis B virus (HBV) and hepatitis C virus (HCV) antibodies and the hepatitis B virus surface antigen (HBsAg) in a cohort of 677 dermatological patients admitted to the Department of Dermatology of Palermo. An 8-mL blood sample was taken from all subjects. The following assays were used: HBsAg, anti-HB core (antigen) (anti-HBc), anti-HB surface (antigen) (anti-HBs), anti-HB early (antigen) (anti-Hbe) and anti-HCV antibodies using enzyme-linked immunosorbent assay. Results One hundred and eighty-nine (27.91%) of the 677 dermatological patients were positive for anti-HBc, anti-HBs, anti-HBe and/or anti-HCV antibodies. In particular 22% (149 patients) were anti-HBc, anti-HBs or anti-HBe positive, reflecting exposure to HBV, and six patients (0.88%) were chronic carriers of HBsAg; 2.36% of the dermatological patients (16 persons) were anti-HCV positive. Tests showed that 24 subjects (3.52%) were infected with hepatitis B or C. The peaks in the age bands were in the 55–80-year-old age groups. Conclusions This study confirms a high rate of HBV and HCV exposure with chronic carriers in our dermatological patients. We assume that the high prevalence of HCV and HBV in dermatological patients is more likely to be age related than to represent a true and direct association with dermatological diseases in general. Definite conclusions will only be available after large epidemiological studies that can establish or refute an aetiological and pathogenetic role of HBV and HCV in certain skin diseases associated with liver infection. [ABSTRACT FROM AUTHOR]

Background: Few and small studies have described the management of immunomodulant/immunosuppressive therapies or phototherapy in atopic dermatitis (AD) patients during coronavirus disease 2019 (COVID-19) pandemic., Methods: A national registry, named DA-COVID-19 and involving 35 Italian dermatology units, was established in order to evaluate the impact of COVID-19 pandemic on the management of adult AD patients treated with systemic immunomodulant/immunosuppressive medications or phototherapy. Demographic and clinical data were obtained at different timepoints by teledermatology during COVID-19 pandemic, when regular visits were not allowed due to sanitary restrictions. Disease severity was assessed by both physician- and patient-reported assessment scores evaluating itch intensity, sleep disturbances, and AD severity., Results: A total of 1831 patients were included, with 1580/1831 (86.3%) continuing therapy during pandemic. Most patients were treated with dupilumab (86.1%, 1576/1831) that was interrupted in only 9.9% (156/1576) of cases, while systemic immunosuppressive compounds were more frequently withdrawn. Treatment interruption was due to decision of the patient, general practitioner, or dermatologist in 39.9% (114/286), 5.6% (16/286), and 30.1% (86/286) of cases, respectively. Fear of increased susceptibility to SARS-CoV-2 infection (24.8%, 71/286) was one of the main causes of interruption. Sixteen patients (0.9%) resulted positive to SARS-CoV-2 infection; 3 of them (0.2%) were hospitalized but no cases of COVID-related death occurred., Conclusions: Most AD patients continued systemic treatments during COVID pandemic and lockdown period, without high impact on disease control, particularly dupilumab-treated patients., (© 2021 EAACI and John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.)

Psoriasis impacts the quality of life (QoL) by disrupting overall health and social life. Thus, the use of a QoL evaluation item is crucial in assessing a therapeutic regimen. Also, faster improvements in QoL lead to better patient compliance, but very few studies compare psoriasis traditional and biologic therapies timing. To evaluate how much different systemic therapies improve disease severity and QoL, a retrospective analysis was performed on 56 patients. Subjects were administered different drugs and their vital statistics, psoriasis area severity index (PASI) and PSOdisk were collected at baseline and after 30 days. We found a moderate correlation between PASI and PSOdisk score with (r): .62. In terms of clinical scores improvement after 30 days, Ustekinumab turned out to be the fastest therapy available, while cyclosporine, among the systemic therapies available, appeared as highly competitive if not better than other biologic therapies., (© 2019 Wiley Periodicals, Inc.)

Matrix metalloproteinases (MMPs) are associated with Kaposi's sarcoma (KS) tumorigenesis and may contribute to the mechanism of KS invasive growth. To date, only a few MMPs have been studied in KS lesions, and exactly which MMPs are involved in KS development and progression remains unanswered. However, MMPs 2 and 9 have been associated with different phases of angiogenesis, but their role in the proteolytic modification of the extracellular matrix has not been investigated. The results of this study confirm that MMPs, specifically MMP-2 and MMP-9, can contribute to angiogenesis by disrupting the vessel basement membrane and other extracellular matrix barriers, and enabling endothelial cells migration through the surrounding tissues.

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition seen in all ethnic groups affecting approximately one in 4000 individuals. The disease is caused by mutations in the NF1 gene, one of the largest human genes. In this report we present one case of massive soft tissue neurofibromas arising in a Sicilian patient with NF1. The sequence of NF1 gene in this patient revealed a cluster of variants distributed along the whole gene. Among these we identified two heterozygous frameshift mutations in exon 19 (c.2480delA) and a novel mutation in exon 21 (c.2632delC). Ten novel nonsynonymous missense variations were also identified in this patient.

We present the case of a woman with diabetes insipidus with subsequent genital and multiorgan Langerhans cell histiocytosis (LCH). A monolateral and slightly infiltrated erythematous plaque of the vulva was observed. Hematoxylin and eosin and immunophenotypic studies were performed. The primary antibodies used were monoclonal antibody to S100, CD1a, CD34, HLA-DR, PCNA, CD45Ro, CD40, and langerin. The histology of the infiltrates revealed a granulomatous reaction pattern, with extensive aggregates of histiocyte proliferation. The histiocytes, morphologically characterized by a pale staining of cytoplasm surrounding a grooved reniform nucleus, sometimes contained small distinct nucleoli. Lymphocytes, eosinophils, macrophages, and both plasma cells and giant cells typically infiltrated the lesions. Cells CD1a+ and S100+ infiltrated the epidermic and were dispersed over the infiltrates as well as in clusters, and around the vessels. A considerable number of CD40-expressing cells were restricted to CD1a+ LCH cells. The specimen contained a high percentage of langerin+ cells in both the dermis and the epidermis. The clinical manifestations of LCH affecting the genital area can be diverse, and in most patients take the form of ulcers or erythematous plaques. Histopathologic examination of the lesion evidences a mixture of Langerhans cell histiocytes (CD1a+, S100+, HLADr+, CD207+, CD 40+), lymphocytes (predominantly helper [CD4] CD 45 Ro+), eosinophils, and macrophages. Each of the cell types produces a "cytokine storm." Many of the cytokines favor recruitment of Langerhans cell progenitors and rescue the Langerhans cell histiocytes from apoptosis.

The present authors reported a 14-year-old white boy who visited the present authors' dermatology department in January 2004. Physical examination revealed multiple translucent and hemorrhagic vesicles and skin-colored nodules on the chin. The lesion had grown slowly in size over the previous 7 years. The objective of this study is to estimate the exact mechanism of action of topical imiquimod on mixed capillary/lymphatic malformation. After 4 weeks of therapy the lesions were less protuberant. At the follow-up examination after a further 2 months of therapy, there was partial clinical regression of the capillary component with a return to normal skin color. One month after termination of therapy the lesions had completely regressed and there was no evidence of recurrence of the hemangiomatous section. The present authors' case suggests the efficacy of the use of topical imiquimod and this therapeutic modality may be of particular benefit in superficial type of capillary/lymphatic malformation, in which the destructive intervention may be undesirable.

Psoriasis and psoriatic arthritis are common diseases associated with considerable morbidity and disability. Their pathophysiology comprises similar processes leading to inflammation of skin, entheses, and joints. Although traditional systemic agents can be effective, their use may be limited by lack of efficacy and concerns regarding adverse effects. The objective of this study was to assess the efficacy and safety of adalimumab, a fully human antitumor necrosis factor (anti-TNF) monoclonal antibody, over 16 weeks. The present authors report their personal experience in 15 patients with severe plaque psoriasis and psoriatic arthritis, refractory to other treatments, in which a decisive regression of joint/skin involvement was obtained. Psoriasis and psoriatic arthritis are chronic inflammatory disorders resulting from a combination of genetic and environmental factors.

The potential role of stem cells in neoplasia has aroused considerable interest over the past few years. A number of known biologic characteristics of melanomas support the theory that they may originate in a mutated stem cell. Melanocytic stem cell markers have been described recently. Moreover, the CD133 cells that show surface markers for CD34 are stem cells primitive. These stem cells are capable of differentiating into neurons, glia, keratinocytes, smooth muscle cells, and melanocytes in vitro. The identification of cancer stem/initiating cells with a crucial role in tumor formation may open up new pharmacologic perspectives. The purpose of this study is to detect the expression of CD133 and CD34, two putative markers of cancer stem cells in the lentigo maligna melanoma. Thirty cases of lentigo maligna melanoma were analyzed using indirect immunohistochemical staining. The vast majority of the samples analyzed showed the presence of rare cells, which were clearly positive for CD133 and CD34. Strong CD133 and CD34 staining was found in the outer root sheath of the mid-lower hair follicles, intermixed with atypical melanocytes extending along layers of the hair follicles. A number of these staminal cells were adjacent and intermixed with melanoma cells. This study supports the stem cell origin of this tumor and suggests that the precursor of the melanoma in question is a stem-like cell rather than the primitive melanoblast committed to be exclusively involved in melanocytic differentiation.

Pemphigus vulgaris (PV) is a severe chronic autoimmune blistering disease of skin and mucous membranes. The use of systemic corticosteroids in pemphigus has dramatically reduced its mortality rate, but the long-term use of steroids leads to severe side effects, many of which are serious. For this reason it is often necessary to add immunosuppressive agents to the regimen. However, there are occasional refractory cases in which therapy with conventionally accepted modalities is either not efficacious or not possible on account of side effects. Rituximab is a therapeutic monoclonal antibody targeting CD20, an integral membrane protein highly expressed on the surface of pre-B lymphocytes and activated mature B lymphocytes. We present an instance of refractory PV successfully treated with rituximab. The successful treatment of pemphigus described here demonstrates that rituximab is a viable therapeutic option for patients with refractory PV.

Fabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. The enzyme defect leads to the systemic accumulation of glycosphingolipids with alpha-galactosyl moieties consisting predominantly of globotriaosylceramide, galabiosylceramide and two additional glycosphingolipids. Four hemizygotes patients with a family history of Fabry disease and deficiency of the enzyme alpha-galactosidase A were selected. Each patient received purified alpha-galactosidase by intravenous infusion (0.2 mg/kg). The infusion was administered every 2 weeks, for 40 min, for a total of 12 months. Outcome measures include neurological manifestations (acroparaesthesia, hypohidrosis, vasomotion), kidney function, cardiac manifestations, angiokeratomas, and corneal dystrophy. alpha-Galactosidase A prepared from human fibroblast is safe and well tolerated. After 12 months of therapy the mean creatinine clearance increased, there was significant improvement in the acroparaesthesias and in the hypohidrosis. Physical stigmata, such as angiokeratomas in the skin, and characteristic benign corneal abnormalities remained stable. Enzyme replacement therapy would therefore represent a significant advance in treatment of patients with Fabry disease. Enzyme replacement therapy is safe and likely to improve the prognosis of Fabry disease.