title: Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?
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.
authors.affiliation: Cancer Research UK Cell Structure Research Group, Dundee University School of Life Sciences, Dundee, UK. m.dalessandro@dundee.ac.uk
authors.forename: Mariella
authors.initials: M
authors.lastname: D'Alessandro
authors.forename: Stephanie E
authors.initials: SE
authors.lastname: Coats
authors.forename: Susan M
authors.initials: SM
authors.lastname: Morley
authors.forename: Lorna
authors.initials: L
authors.lastname: Mackintosh
authors.forename: Gianpaolo
authors.initials: G
authors.lastname: Tessari
authors.forename: Alberto
authors.initials: A
authors.lastname: Turco
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Gerdes
authors.forename: Gabriella
authors.initials: G
authors.lastname: Pichert
authors.forename: Sean
authors.initials: S
authors.lastname: Whittaker
authors.forename: Flemming
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authors.lastname: Brandrup
authors.forename: Sigurd
authors.initials: S
authors.lastname: Broesby-Olsen
authors.forename: Macarena
authors.initials: M
authors.lastname: Gomez-Lira
authors.forename: Giampiero
authors.initials: G
authors.lastname: Girolomoni
authors.forename: John C
authors.initials: JC
authors.lastname: Maize
authors.forename: Ron J
authors.initials: RJ
authors.lastname: Feldman
authors.forename: Naoko
authors.initials: N
authors.lastname: Kato
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Koga
authors.forename: Malcolm A
authors.initials: MA
authors.lastname: Ferguson-Smith
authors.forename: David R
authors.initials: DR
authors.lastname: Goudie
authors.forename: E Birgitte
authors.initials: EB
authors.lastname: Lane
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002277:Carcinoma / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology; D002648:Child; D005260:Female; D018703:Founder Effect; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012075:Remission, Spontaneous; D012606:Scotland; D012878:Skin Neoplasms / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology