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8. Steensel MAM van, Geel M van, Schrander-Stumpel C, et al. 2007. Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons-Bianchi syndrome. Am J Med Genet 2007; 143A: 2448-51. 9. Damstra RJ, Steensel MAM van, Boomsma JH, et al. Erysipelas as a sign of subclinical primary lymphoedema: a prospective quantitative scintigraphic study of 40 patients with unilateral erysipelas of the leg. Br J Dermatol 2008; 158: 1210-5. Genodermatology The development of the subdiscipline of genodermatology started in the year 2003. In a rather short time a laboratory for molecular genetics was created, where research was promptly started into the genetic background of several hereditary skin disorders. Moreover, experimental genetic diagnostic tests were offered to clinical working physicians. Within a year, the departments of dermatology and clinical genetics started combined multidisciplinary clinical consultations for patients with hereditary conditions. The close collaboration between dermatologist, clinical geneticist and molecular geneticist soon yielded results, and has been successfully continued till today. Highlights are publications about the genetic basis of acral peeling skin, about the identification of a new laminopathy, about new mutations in cutaneous leiomyomatosis, and about genetic information on porphyrias.[1-5] To guarantee a sustainable research policy, it was soon decided to focus not only on genetics, but also on molecular cell biology. The collaboration with the departments of Molecular Cell biology in Maastricht and with several foreign research groups appeared to be invaluable. Research was focused on diseases of the nuclear envelope, so-called laminopathies, including for example progeria and disorders with an abnormal fat distribution. We concentrated specifically on gap junction diseases of the skin, in which anomalous keratinization and inflammation are caused by mutations in connexines, proteins controlling intercellular communication.[6,7] The change in focus facilitated the initiation of more aspiring projects. Because of the fact that Maastricht has a solid oncology research line, a connection between genodermatology and oncology was quite self-evident. Consequently, research projects regarding basal cell carcinoma and the rare Hornstein-Birt-Hogg-Dubé syndrome, the latter syndrome giving rise to benign hair follicle tumors and kidney cancer, were initiated. For both projects grants for innovative research were received from the Dutch organizations ZonMW and KWF. Currently the laboratory of Experimental Dermatology is involved in cell biology, using a diversity of techniques including animal models. This activities resulted in investigations regarding rare hereditary diseases, in which the authors do not only focus on the genetic origin, but also on their pathophysiology.[8] About patient care it is important to note that the molecular testing for genodermatoses is now accommodated in the laboratory for DNA diagnostics. Patients with the most common inherited diseases now rapidly can get a reliable molecular diagnosis. 150 BWEADVSMGFINCORR:Opmaak 1 21-07-2014 17:41 Pagina 150