TY - JOUR
T1 - Multiple self-healing squamous epithelioma in different ethnic groups
T2 - more than a founder mutation disorder?
AU - D'Alessandro, Mariella
AU - Coats, Stephanie E
AU - Morley, Susan M
AU - Mackintosh, Lorna
AU - Tessari, Gianpaolo
AU - Turco, Alberto
AU - Gerdes, Anne-Marie
AU - Pichert, Gabriella
AU - Whittaker, Sean
AU - Brandrup, Flemming
AU - Broesby-Olsen, Sigurd
AU - Gomez-Lira, Macarena
AU - Girolomoni, Giampiero
AU - Maize, John C
AU - Feldman, Ron J
AU - Kato, Naoko
AU - Koga, Yukiko
AU - Ferguson-Smith, Malcolm A
AU - Goudie, David R
AU - Lane, E Birgitte
PY - 2007/10
Y1 - 2007/10
N2 - 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.
AB - 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.
KW - Adolescent
KW - Adult
KW - Aged
KW - Aged, 80 and over
KW - Carcinoma
KW - Child
KW - Female
KW - Founder Effect
KW - Genetic Predisposition to Disease
KW - Genetic Testing
KW - Haplotypes
KW - Humans
KW - Male
KW - Middle Aged
KW - Mutation
KW - Pedigree
KW - Remission, Spontaneous
KW - Scotland
KW - Skin Neoplasms
U2 - 10.1038/sj.jid.5700914
DO - 10.1038/sj.jid.5700914
M3 - Article
C2 - 17554363
SN - 0022-202X
VL - 127
SP - 2336
EP - 2344
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
IS - 10
ER -
