1. ¹Cancer Research UK Cell Structure Research Group, Dundee University School of Life Sciences, Dundee, UK
2. ²Department of Dermatology, Western Infirmary, Glasgow, UK
3. ³Section of Dermatology and Venereology, Department of Biomedical and Surgical Sciences, University of Verona, Verona, Italy
4. ⁴Section of Biology and Genetics, Department of Mother and Child, University of Verona, Verona, Italy
5. ⁵Department of Biochemistry, Pharmacology and Genetics, Odense University Hospital, Odense, Denmark
6. ⁶Department of Clinical Genetics, Guy's Hospital, London, UK
7. ⁷St Johns Institute of Dermatology, St Thomas Hospital, London, UK
8. ⁸Department of Dermatology, Odense University Hospital, Odense, Denmark
9. ⁹Department of Dermatology, Medical University of South Carolina, Charleston, USA
10. ¹⁰Department of Dermatology, National Sapporo Hospital, Sapporo, Japan
11. ¹¹Department of Plastic and Reconstructive Surgery, Juntendo University School of Medicine, Tokyo, Japan
12. ¹²Department of Clinical Veterinary Medicine, University of Cambridge, Cambridge, UK
13. ¹³Department of Human Genetics, Ninewells Hospital and Medical School, Dundee, UK

Correspondence: Dr Mariella D'Alessandro, Cancer Research UK Cell Structure Research Group, Dundee University School of Life Sciences, MSI/WTB Complex, Dow Street, Dundee DD1 5EH, UK. E-mail: m.dalessandro@dundee.ac.uk

Received 11 December 2006; Revised 13 February 2007; Accepted 25 March 2007; Published online 7 June 2007.

Abstract

Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson–Smith Disease, is a rare cancer-associated genodermatosis with an autosomal dominant inheritance. Affected patients suffer from recurrent skin lesions, which clinically and histologically resemble keratoacanthomas or well-differentiated squamous cell carcinomas, but which, if left, undergo spontaneous regression, leaving pronounced scarring. The majority of MSSE cases previously described were of Scottish ancestry and all shared the same at-risk haplotype, suggesting that this disorder was caused by a founder mutation. The candidate locus for MSSE lies in a region of <4 cM in chromosome 9q22, between the markers D9S197 and D9S1809. We recently investigated MSSE families of non-Scottish origin. For every patient of these families, we obtained a detailed clinical history, with particular attention to the age of onset, distribution, and clinical course of their skin lesions. Once confirmed that they were really affected by MSSE, we performed haplotype analysis on them and their families. The haplotypes for polymorphic markers segregating with MSSE in non-Scottish and Scottish families differ, suggesting that MSSE is not caused by a founder mutation and might be more common than originally thought.