Medicine
Volume 37, Issue 6 , Pages 298-302, June 2009

Genodermatoses

Nigel P Burrows MD FRCP is Consultant Dermatologist and Associate Lecturer at Addenbrooke's Hospital, Cambridge, UK. Competing interests: none declared

Abstract 

Genetic skin diseases encompass the common to the rare. It is important for the clinician to be alert to the possibility that their patient may be presenting for the first time with one or more features of a genetic disease so that appropriate investigation and counselling can take place. Recent discoveries have helped the understanding of many of these disorders. A few common and important genodermatoses are highlighted in this article.

Keywords: cancer syndromes, collagen, epidermolysis bullosa, filaggrin, genodermatoses, ichthyosis, keratinization, pseudoxanthoma elasticum

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PII: S1357-3039(09)00063-2

doi:10.1016/j.mpmed.2009.02.010

Medicine
Volume 37, Issue 6 , Pages 298-302, June 2009