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Background Nearly 10% of all cases of cutaneous melanoma ( CM) occur in patients with a personal or family history of the disease. Objectives To obtain information about genetic predisposition to CM in Ticino, the southern region of Switzerland, a zone with moderate-to-high CM incidence. Methods We identified germline mutations in highly CM-associated genes ( CDKN2A and CDK4) and low/medium-penetrance variants ( MC1R and MITF) in patients with multiple primary CMs or individuals with one or more CM and a positive family history for CM or pancreatic cancer among first- or second-degree relatives. Healthy blood donors ( n = 146) were included as a control group. Results From July 2010 to July 2012, 57 patients (41 pedigrees) were included. Twenty-six were melanoma-prone families (with at least two cases) and 15 had multiple CMs. Pancreatic cancer was found in six families. The CDKN2A mutation p.V126D was identified in seven patients (four families) with a founder effect, whereas CDKN2A A148T was detected in seven cases (five families) and seven healthy donors (odds ratio 2·76, 95% confidence interval 0·83-9·20). At least one MC1R melanoma-associated polymorphism was detected in 32 patients (78%) and 97 healthy donors (66%), with more than one polymorphism in 12 patients (29%) and 25 healthy donors (17%). The MITF variant p.E318K was identified in four patients from three additional pedigrees (7%) and one healthy control (0·7%). Conclusions Inclusion criteria for the Ticino population for genetic assessment should follow the rule of two (two affected individuals in a family or a patient with multiple CMs), as we detected a CDKN2A mutation in almost 10% of our pedigrees (four of 41), MITF p.E318K in 7% (three of 41) and a higher number of MC1R variants than in the control population. [ABSTRACT FROM AUTHOR]

No abstract available Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Psoriasis is a chronic inflammatory skin disorder that can cause substantial disability. The recognition of psoriasis as an immunologically mediated disease led to the development of agents that specifically target key steps in the pathological process. In this review, we focus on the mechanism of action, the efficacy and the safety data of the new biological treatments: alefacept, efalizumab, etanercept, infliximab and adalimumab.

Hallopeau's acrodermatitis is characterized by the presence of aseptic pustules on an inflammatory basis of the periungual or subungual region. The cyclic recurrences induce important physical and psychological morbidity. By analogy to the efficacy of TNF-alpha antagonists in the treatment of generalized pustular psoriasis, our patient illustrates the long-term efficacy and safety of etanercept (Enbrel) in the treatment of Hallopeau's acrodermatitis refractory to infliximab (Remicade). This treatment alternative should in consequence be considered in patients with a recalcitrant form of a potentially debilitating disease., ((c) 2008 S. Karger AG, Basel.)

The growing emergency of infections with community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA) secreting the Panton-Valentine toxin (PVL) has become a serious health problem with epidemic proportions. These bacteria are responsible of severe skin and soft tissue infections, with frequently necrotic lesions, and severe necrotizing pneumonias. CA-MRSA, the spreading of which is particularly observed in certain risk populations (such as schoolchildren, prison inmates, exposure to healthcare establishment) is now also implicated in nosocomial infections. Besides adequate antibiotic treatment, surgical drainage and incision of the skin lesions are important. It is therefore essential to respect elementary hygiene rules in order to prevent the acquisition and transmission of CA-MRSA.

There has been a considerable progress in the understanding of the physiopathology of BP during the past 2 decades. The insights into the humoral and cellular immune response against BP180 and BP230 have increased significantly. Nevertheless, the factors underlying the initiation of the disease leading to a disruption of self-tolerance remain unclear. Clinically, the disease shows protean presentations, and diagnostic delay is common. A practical, relevant, and unresolved question is how to identify patients suffering from BP at an early stage of the disease, when direct immunofluorescence microscopy findings still may be negative. The characterization of markers allowing the differentiation of BP from other pruritic eruptions occurring in the elderly population would be extremely helpful in daily practice. Finally, despite the knowledge that potent topical steroids are efficient in controlling the disease, management of BP sometimes remains difficult and requires systemic therapies. It is hoped that a better knowledge of the regulation of the autoimmune response in BP also will facilitate the design of novel immunomodulatory therapeutic approaches devoid of the severe side effects of current immunosuppressive treatments.

Background: Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the association of at least 1 cutaneous sebaceous tumor and 1 internal malignancy, often arising in the gastrointestinal tract. It is secondary to germline mutations in DNA mismatch repair genes, mainly MLH-1 and MSH-2., Observations: We report the case of a 54-year-old man with a 2-year history of skin-colored papules clinically reminiscent of large sebaceous hyperplasias on the nose and back, but histologically diagnosed as sebaceous adenomas and epitheliomas. His family history was positive for colon cancer in the mother and 2 brothers. A colonoscopy done during the hospitalization revealed 2 sessile polyps in the left colon, both showing a low-grade dysplasia on the biopsy specimen. Immunohistochemical staining performed on the cutaneous and colic biopsy specimens revealed a lack of expression of MSH-2 and MSH-6. Genetic testing revealed microsatellite instability in the colon and cutaneous tumors., Conclusion: The immunohistochemical testing for MSH-2, MSH-6, and MLH-1 is useful for rapid identification of an underlying mismatch repair defect and early diagnosis of MTS.

Fulminant herpetic sycosis is a rare but well-known manifestation of herpes simplex virus (HSV) infection occurring in the context of viral recurrence in immunodepressed patients. We present here the case of a 32-year-old male patient, without notable medical history, who developed papulovesicular lesions of the beard accompanied by fever, painful cervical lymphadenopathy and odynophagia, with a clinical evolution that was initially unfavourable under antibiotic treatment. The diagnosis of herpetic sycosis was established by means of direct immunofluorescence and culture which confirmed positivity for HSV-1 and serologies compatible with a primary viral infection. No sign for a latent immune deficit was found at the time of investigations. The clinical evolution was rapidly favourable with administration of intravenous aciclovir for 1 week. To our knowledge, herpetic sycosis as a presentation of primary viral infection has not been reported previously. The possibility of a herpetic sycosis of the beard must be considered in the case of non-response to antibiotic or antifungal treatment., (Copyright 2004 S. Karger AG, Basel)