Epidermodysplasia verruciformis (EV) is an autosomal recessive skin disorder with a phenotype conditional on human beta-papillomavirus (beta-HPV) infection. Such infections are common and asymptomatic in the general population, but in individuals with EV, they lead to the development of plane wart-like and red or brownish papules or pityriasis versicolor-like skin lesions, from childhood onwards. Most patients develop non-melanoma skin cancer (NMSC), mostly on areas of UV-exposed skin, from the twenties or thirties onwards. At least half of the cases of typical EV are caused by biallelic loss-of-function mutations of TMC6/EVER1 or TMC8/EVER2. The cellular and molecular basis of disease in TMC/EVER-deficient patients is unknown, but a defect of keratinocyte-intrinsic immunity to beta-HPV is suspected. Indeed, these patients are not susceptible to other infectious diseases and have apparently normal leukocyte development. In contrast, patients with an atypical form of EV due to inborn errors of T-cell immunity invariably develop clinical symptoms of EV in the context of other infectious diseases. The features of the typical and atypical forms of EV thus suggest that the control of beta-HPV infections requires both EVER1/EVER2-dependent keratinocyte-intrinsic immunity and T cell-dependent adaptive immunity.

AbstractEctodermal dysplasias, a large group of heterogeneous heritable conditions, are characterized by congenital defects in two or more ectodermal structures, involving at least one in the hair (trichodysplasia), teeth (dental defects), nails (onychodysplasia) or sweat glands (hypohidrosis). Of the approximately 220 different ectodermal dysplasias, about 80 have been identified at the molecular level with the identification of the causative genes. Recent evidence implicates genetic defects in different key pathways orchestrating ectodermal organogenesis.

There are about 10,000 monogenic diseases and around 30 % demonstrate alterations in the skin and its appendages. As there are so many genetic different skin diseases, clear diagnosis is often very difficult. The goal of this review is to give the clinicians some key features on nails and teeth which might help to identify rare genodermatoses. In the daily work genodermatoses manifest more commonly as incomplete or oligosymptomatic syndromes than as complete symptom complexes. To diagnose a rare disorder in such situations, a knowledge of key features which are characteristic for a genodermatoses is essential, so that a diagnosis can be advanced and the underlying gene defect identified. Changes in nails and teeth sometimes may be useful as diagnostic key features. Both structures originate from ectoderm and therefore they often appear in combination in diseases with major ectodermal malformations. Enamel defects resembling the lines of Blaschko are highly suggestive for focal dermal hypoplasia, even if other important signs and symptoms are missing. Enamel defects combined with gingival fibromas are highly suggestive for tuberous sclerosis. On the other side, triangular lunulae with malformation and dystrophy of the nail plate suggests nail-patella syndrome.

Es gibt rund 10.000 monogene Erkrankungen, und etwa 30 % zeigen eine Mitbeteiligung des Integuments. Bei dieser Vielfalt von genetischen Erkrankungen mit Hautbeteiligung ist die Diagnosestellung oft schwierig.

Die initiale Markierung der Grenzen der Hautrötung bei Erysipel oder Zellulitis ist sehr wichtig für die Beurteilung des Verlaufs. Die häufigsten Erreger der Zellulitis sind S. aureus und ß-hämolysierende Streptokokken, beim Erysipel ß-hämolysierende Streptokokken.

Health or disease is a result of the genetic constellation and environmental influences. The phenotype of monogenic diseases is highly influenced by one single mutation. According to the WHO more than 10,000 monogenic diseases exist while for 1,000 diseases a molecular genetic test is available. Genodermatoses are well-documented and characterized; the most important data base for the diagnosis is the Online Mendelian Inheritance of Men data base, which can be searched in Google with the keyword "OMIM". Here genetic diseases are categorized and clinically described. We present our own epidemiologic data from the Department of Dermatology, University Hospital Basel, concerning genodermatoses. Our results show that the most common genodermatoses seen in the daily practice are porokeratoses, ichthyoses, Darier disease, neurofibromatosis and epidermolysis bullosa. They account for 91% of all genodermatoses seen in a hospital-based dermatology department of Dermatology.

Le marquage initial du contour de l’érythème dans l’érysipèle ou la cellulite est très important pour en suivre l’évolution. Les germes pathogènes les plus fréquents de la cellulite sont S. aureus et les streptocoques ß-hémolytiques. Ceux de l’érysipèle sont les streptocoques ß-hémolytiques.

Gesundheit oder Krankheit sind das Resultat von genetischer Konstellation und genetischer Veranlagung. Monogene Erkrankungen werden sehr stark durch die Mutation eines einzigen Gens phänotypisch geprägt. Gemäß WHO gibt es etwa 10.000 monogen verursachte Erkrankungen, und bei 1000 ist bereits eine molekulare Gentestung möglich. Genodermatosen im Zeitalter der digitalen Dokumentation sind heute gut charakterisiert, und die wichtigste genetische Datenbank kann über Google mit dem Stichwort „OMIM“ aufgerufen werden, welches eine Abkürzung für „Online Mendelian Inheritance of Man“ darstellt. Hier werden genetische Krankheiten katalogisiert und, soweit bekannt, den menschlichen Genen zugeordnet. Wir präsentieren unsere eigenen epidemiologischen Daten aus der Dermatologie des Universitätsspitals Basel zu Genodermatosen. Es zeigte sich, dass folgende 5 monogenen Erkrankungen besonders häufig in der Praxis des Dermatologen gesehen werden: Porokeratosen, Ichthyosen, Darier-Krankheit, Neurofibromatosis Recklinghausen und Epidermolysis bullosa. Diese 5 Diagnosen machen 91% der Genodermatosen in der Sprechstunde eines Universitätsspitals aus.

JDDG: Journal der Deutschen Dermatologischen GesellschaftVolume 7, Issue 9 p. 744-749 Mosaik-Erscheinungen von monogenen Hauterkrankungen Peter Itin, Peter Itin Dermatologie Universitätsspital Basel, SchweizSearch for more papers by this authorBettina Burger, Bettina Burger Forschungslabor Dermatologie, Departement Biomedizin, Basel, SchweizSearch for more papers by this author Peter Itin, Peter Itin Dermatologie Universitätsspital Basel, SchweizSearch for more papers by this authorBettina Burger, Bettina Burger Forschungslabor Dermatologie, Departement Biomedizin, Basel, SchweizSearch for more papers by this author First published: 26 August 2009 https://doi.org/10.1111/j.1610-0387.2009.07033_supp.xCitations: 7AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume7, Issue9September 2009Pages 744-749 RelatedInformation

Journal of the European Academy of Dermatology and VenereologyVolume 23, Issue 10 p. 1219-1220 Non-syndromic hereditary basal cell carcinomas: a reduplicated discovery PH Itin, Corresponding Author PH Itin Department of Dermatology, University Hospital Basel, Basel, Switzerland PH Itin. E-mail:[email protected]Search for more papers by this authorR Happle, R Happle Department of Dermatology, Philipp University of Marburg, Marburg, GermanySearch for more papers by this author PH Itin, Corresponding Author PH Itin Department of Dermatology, University Hospital Basel, Basel, Switzerland PH Itin. E-mail:[email protected]Search for more papers by this authorR Happle, R Happle Department of Dermatology, Philipp University of Marburg, Marburg, GermanySearch for more papers by this author First published: 10 September 2009 https://doi.org/10.1111/j.1468-3083.2009.03277.xCitations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1 Coquart N, Meyer N, Lemasson G, Conan V, Hu W, Misery L. A new non-syndromic type of familial carcinomas? J Eur Acad Dermatol Venereol 2009; 23: 223–224. 10.1111/j.1468-3083.2008.02808.x CASPubMedWeb of Science®Google Scholar 2 Happle R. Nonsyndromic type of hereditary multiple basal cell carcinoma. Am J Med Genet 2000; 95: 161–163. 10.1002/1096-8628(20001113)95:2<161::AID-AJMG13>3.0.CO;2-S CASPubMedWeb of Science®Google Scholar 3 Online Mendelian Inheritance in Man (OMIM). Available at: http://www.ncbi.nlm.nih.gov/omim/. Accessed on 3 February 2009. Google Scholar Citing Literature Volume23, Issue10October 2009Pages 1219-1220 ReferencesRelatedInformation

The objective of our study was to get epidemiological data in the region of Aarau, Switzerland, about the frequency of cutaneous metastases from visceral malignancies. With a computer search we analyzed all patients with skin metastases from visceral malignancies who had attended our clinic between January 1, 1998, and December 31, 2003. Out of 19 491 patients, 37 had cutaneous metastases from visceral tumours (0,19%): 25 women (67.5%) and 12 men (32.5%) were affected. 19 had breast cancer (51%), 8 sarcomas (21%), 2 leukemia (5%), 2 colorectal cancer, and one each ovary carcinoma, bronchial cancer, prostate cancer, malignant histiocytoma and Non-Hodgkin lymphoma (3%). In 24 cases the primary malignancy was known (65%). In 35% cutaneous metastases were diagnosed at the same time as the primary tumour. Primary malignancies were diagnosed in 54% within the age range of 50-70 years, and 65% of cutaneous metastases were diagnosed within the age range of 50-80 years. In 51% skin metastases were the first site of dissemination. In 49% other known metastases were present (5% locoregional, 38% lymph nodes, 3% brain, 3% lung, 3% liver). Our study documents that cutaneous metastases from visceral malignancies are rare. However, early diagnosis has an impact concerning further treatment and prognosis.

Ziel dieser retrospektiven Studie war es, epidemiologische Daten von Hautmetastasen bei viszeralen Malignomen im Kanton Aargau, Schweiz, zu erarbeiten. In der Abteilung für Dermatologie des Kantonsspitals Aarau, Schweiz, wurden im Zeitraum vom 1. Januar 1998 bis zum 31. Dezember 2003, 19.491 Patienten gesehen. Mit Hilfe einer Computersuche wurden diejenigen Patienten herausgefiltert, welche histologisch verifizierte Hautmetastasen bei viszeralem Malignom aufwiesen. Im Gesamtkollektiv von 19.491 Patienten fanden sich 37 Fälle (0,2%) von Hautmetastasen bei nicht primär kutanen Malignomen verteilt auf 36 Patienten. Das Studienkollektiv umfasste 24 Frauen (66,7%) und 12 Männer (33,3%). Bei den 37 Malignomdiagnosen handelte es sich um 19 Mammakarzinome (51,4%), 8 Sarkome (21,6%), 2 Leukämien (5,4%), 2 Kolorektalkarzinome (5,4%) und je 1 Bronchialkarzinom, 1 Tubenkarzinom, 1 Prostatakarzinom, 1 Karzinoid, 1 Non-Hodgkin-Lymphom und 1 malignes Histiozytom (je 2,7%). Unsere Studie zeigt, dass Hautmetastasen bei nicht primär kutanen Malignomen selten sind und gehäuft bei spezifischen Malignomen auftreten (Mammakarzinom, Sarkome). Die frühzeitige und korrekte Diagnose hat für die Patienten therapeutische und prognostische Bedeutung. Das Auftreten von Hautmetastasen ist ein Anzeichen der fortgeschrittenen Grunderkrankung und geht mit einer schlechten Prognose einher.

Angiokeratomas are vascular lesions which are defined histologically as one or more dilated blood vessel(s) lying directly subepidermal and showing an epidermal proliferative reaction. At the center of pathogenesis there is a capillary ectasia in the papillary dermis. The epidermal changes in all forms of angiokeratoma are secondary. The different entities causing vessel ectasia lead to the many clinical variants of angiokeratoma. Current classification distinguishes between widespread forms (angiokeratoma corporis diffusum), which is usually associated with an inborn error of metabolism, and localized forms, which include solitary angiokeratoma, Fordyce's angiokeratoma, angiokeratoma circumscriptum naeviforme and angiokeratoma of Mibelli.

Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Piebaldism results from mutations of the KIT proto-oncogene, which encodes the cellular receptor transmembrane tyrosine kinase for mast/stem cell growth factor. Here we describe two novel KIT mutations associated with human piebaldism. These amino acid substitutions, located in the most highly conserved sections of the KIT kinase domain, would be expected to dominant-negatively inhibit KIT-dependent signal transduction, resulting in aberrant melanocyte proliferation or migration during embryologic development.