Browsing by Author "Lens, Marko (6603722285)"

Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic infammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affected individuals. The FERMT1 gene encodes kindlin-1 (also known as fer-mitin family homologue 1), a 77 kDa protein that localizes at focal adhesions, where it plays an important role in integrin signalling. In the current study, we describe five novel and three recurrent loss-of-function FERMT1 mutations in eight individuals with Kindler syndrome, and provide an overview of genotype-phe-notype correlation in this disorder.© 2011 The Authors.

Dystrophic epidermolysis bullosa (DEB) and aplasia cutis congenita (ACC), also known as congenital localized absence of skin (CLAS) are rare clinical entities. Aplasia cutis congenita presented in conjunction with simplex, junctional, or dystrophic types of epidermolysis bullosa (EB) is classified as type-6 ACC. This association was initially described and referred in the literature as Bart syndrome. We describe two cases of recessive DEB (RDEB), one with the major Hallopeau-Siemens (RDEB-HS) subtype and one case with the minor RDEB inversa (RDEB-I) subtype associated with ACC localized on the lower extremities. Full clinical history and transmission electron microscopic findings are presented for both cases. To date, only five cases of RDEB presenting with ACC have been reported in the literature. Detailed descriptions of the association of RDEB and ACC in the literature are scarce. It seems that this condition is probably more common in clinical practice than described in the literature. Our findings confirm that the term, Bart syndrome, should not be considered as a separate entity or clinical variant of dominant dystrophic EB as it was initially described. Congenital localized absence of skin may be associated with any of the three major types of EB (simplex, junctional, or dystrophic). © 2008 Dermatology Online Journal.

Background: The most common type of lip carcinoma is squamous cell carcinoma (SCC), accounting for approximately 90% of all oral malignancies. Currently, surgery and/or radiotherapy are considered the standards of care for SCC of the lip. Materials and Methods: We retrospectively analyzed medical records of patients diagnosed with SCC of the lip at the Clinic for Maxillofacial surgery at University of Belgrade (Belgrade, Serbia) during a period between 1991 and 2000. Results: A total of 223 patients with SCC of the lip were diagnosed and treated during a 10-year period. The overall male-to-female ratio was 5 to 0. The most frequently affected site was the lower lip (92.8%). Mean diameter of the tumor was 30.1 mm (range, 5 to 80 mm). Neck lymph node metastases at presentation was detected in 26.5% of patients, who subsequently underwent neck dissection. We observed a linear trend in the association between the size of the tumor and the clinical stage of the neck (χ2 = 15.1; df = 1; P < .0001). Different surgical techniques were used for reconstruction of the lip defect after tumor removal. After a median follow-up of 56 months (range, 15 to 78 months), local recurrence occurred in 10.8% of patients while regional metastases developed in 4.5% of patients. Mortality from SCC of the lip was only 2.2%. Conclusion: SCC of the lip generally has a favorable outcome. Recently, there have been no major advances in lip reconstruction but rather continued improvement on accepted techniques. Early detection is essential for the successful treatment of SCC of the lip, which requires a multidisciplinary approach. © 2007 American Association of Oral and Maxillofacial Surgeons.

Background: The most common type of lip carcinoma is squamous cell carcinoma (SCC), accounting for approximately 90% of all oral malignancies. Currently, surgery and/or radiotherapy are considered the standards of care for SCC of the lip. Materials and Methods: We retrospectively analyzed medical records of patients diagnosed with SCC of the lip at the Clinic for Maxillofacial surgery at University of Belgrade (Belgrade, Serbia) during a period between 1991 and 2000. Results: A total of 223 patients with SCC of the lip were diagnosed and treated during a 10-year period. The overall male-to-female ratio was 5 to 0. The most frequently affected site was the lower lip (92.8%). Mean diameter of the tumor was 30.1 mm (range, 5 to 80 mm). Neck lymph node metastases at presentation was detected in 26.5% of patients, who subsequently underwent neck dissection. We observed a linear trend in the association between the size of the tumor and the clinical stage of the neck (χ2 = 15.1; df = 1; P < .0001). Different surgical techniques were used for reconstruction of the lip defect after tumor removal. After a median follow-up of 56 months (range, 15 to 78 months), local recurrence occurred in 10.8% of patients while regional metastases developed in 4.5% of patients. Mortality from SCC of the lip was only 2.2%. Conclusion: SCC of the lip generally has a favorable outcome. Recently, there have been no major advances in lip reconstruction but rather continued improvement on accepted techniques. Early detection is essential for the successful treatment of SCC of the lip, which requires a multidisciplinary approach. © 2007 American Association of Oral and Maxillofacial Surgeons.

Background: The incidence of non-melanoma skin cancer is increasing worldwide. Systemic retinoids are useful for the chemoprophylaxis of nonmelanoma skin cancers. Retinoids have pleiotropic effects, but their exact cancer chemopreventive mechanism is still not clear. Objective: The aim of this study was to review published literature evaluating the use of oral retinoids in the chemoprevention of non-melanoma skin cancers. Methods: The study reviewed all relevant papers found through a search of the electronic databases MEDLINE (from 1966 to January 2008) and Embase (from 1974 to January 2008). Results/conclusion: General and specific indications for retinoid chemoprophylaxis are defined. The pharmacokinetics and dose regimens of the two most commonly used oral retinoids (isotretinoin and acitretin) in the chemoprevention of non-melanoma skin cancers are presented. The use of oral retinoids is associated with adverse effects, which are discussed in detail. The future of retinoid cancer chemoprevention depends on the development and research of novel retinoids with improved bioavailability and minimized toxicity. © 2008 Informa UK Ltd.

Background: The incidence of non-melanoma skin cancer is increasing worldwide. Systemic retinoids are useful for the chemoprophylaxis of nonmelanoma skin cancers. Retinoids have pleiotropic effects, but their exact cancer chemopreventive mechanism is still not clear. Objective: The aim of this study was to review published literature evaluating the use of oral retinoids in the chemoprevention of non-melanoma skin cancers. Methods: The study reviewed all relevant papers found through a search of the electronic databases MEDLINE (from 1966 to January 2008) and Embase (from 1974 to January 2008). Results/conclusion: General and specific indications for retinoid chemoprophylaxis are defined. The pharmacokinetics and dose regimens of the two most commonly used oral retinoids (isotretinoin and acitretin) in the chemoprevention of non-melanoma skin cancers are presented. The use of oral retinoids is associated with adverse effects, which are discussed in detail. The future of retinoid cancer chemoprevention depends on the development and research of novel retinoids with improved bioavailability and minimized toxicity. © 2008 Informa UK Ltd.