Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?

Mariella D'Alessandro, Stephanie E Coats, Susan M Morley, Lorna Mackintosh, Gianpaolo Tessari, Alberto Turco, Anne-Marie Gerdes, Gabriella Pichert, Sean Whittaker, Flemming Brandrup, Sigurd Broesby-Olsen, Macarena Gomez-Lira, Giampiero Girolomoni, John C Maize, Ron J Feldman, Naoko Kato, Yukiko Koga, Malcolm A Ferguson-Smith, David R Goudie, E Birgitte Lane

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

 
Udgivelsesdato: 2007-Oct
OriginalsprogEngelsk
TidsskriftJournal of Investigative Dermatology
Vol/bind127
Udgave nummer10
Sider (fra-til)2336-2344
Antal sider8
ISSN0022-202X
DOI
StatusUdgivet - 1. okt. 2007

Fingeraftryk

Skin
Mutation
Chromosomes
Haplotypes
Keratoacanthoma
Age Distribution
Age of Onset
Epithelial Cells
Neoplasms

Citer dette

D'Alessandro, M., Coats, S. E., Morley, S. M., Mackintosh, L., Tessari, G., Turco, A., ... Lane, E. B. (2007). Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder? Journal of Investigative Dermatology, 127(10), 2336-2344. https://doi.org/10.1038/sj.jid.5700914
D'Alessandro, Mariella ; Coats, Stephanie E ; Morley, Susan M ; Mackintosh, Lorna ; Tessari, Gianpaolo ; Turco, Alberto ; Gerdes, Anne-Marie ; Pichert, Gabriella ; Whittaker, Sean ; Brandrup, Flemming ; Broesby-Olsen, Sigurd ; Gomez-Lira, Macarena ; Girolomoni, Giampiero ; Maize, John C ; Feldman, Ron J ; Kato, Naoko ; Koga, Yukiko ; Ferguson-Smith, Malcolm A ; Goudie, David R ; Lane, E Birgitte. / Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?. I: Journal of Investigative Dermatology. 2007 ; Bind 127, Nr. 10. s. 2336-2344.
@article{df287870ce7111dc8674000ea68e967b,
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.",
keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Carcinoma, Child, Female, Founder Effect, Genetic Predisposition to Disease, Genetic Screening, Haplotypes, Humans, Male, Middle Aged, Mutation, Pedigree, Remission, Spontaneous, Scotland, Skin Neoplasms",
author = "Mariella D'Alessandro and Coats, {Stephanie E} and Morley, {Susan M} and Lorna Mackintosh and Gianpaolo Tessari and Alberto Turco and Anne-Marie Gerdes and Gabriella Pichert and Sean Whittaker and Flemming Brandrup and Sigurd Broesby-Olsen and Macarena Gomez-Lira and Giampiero Girolomoni and Maize, {John C} and Feldman, {Ron J} and Naoko Kato and Yukiko Koga and Ferguson-Smith, {Malcolm A} and Goudie, {David R} and Lane, {E Birgitte}",
year = "2007",
month = "10",
day = "1",
doi = "10.1038/sj.jid.5700914",
language = "English",
volume = "127",
pages = "2336--2344",
journal = "The Journal of Investigative Dermatology",
issn = "0022-202X",
publisher = "Nature Publishing Group",
number = "10",

}

D'Alessandro, M, Coats, SE, Morley, SM, Mackintosh, L, Tessari, G, Turco, A, Gerdes, A-M, Pichert, G, Whittaker, S, Brandrup, F, Broesby-Olsen, S, Gomez-Lira, M, Girolomoni, G, Maize, JC, Feldman, RJ, Kato, N, Koga, Y, Ferguson-Smith, MA, Goudie, DR & Lane, EB 2007, 'Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?', Journal of Investigative Dermatology, bind 127, nr. 10, s. 2336-2344. https://doi.org/10.1038/sj.jid.5700914

Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder? / D'Alessandro, Mariella; Coats, Stephanie E; Morley, Susan M; Mackintosh, Lorna; Tessari, Gianpaolo; Turco, Alberto; Gerdes, Anne-Marie; Pichert, Gabriella; Whittaker, Sean; Brandrup, Flemming; Broesby-Olsen, Sigurd; Gomez-Lira, Macarena; Girolomoni, Giampiero; Maize, John C; Feldman, Ron J; Kato, Naoko; Koga, Yukiko; Ferguson-Smith, Malcolm A; Goudie, David R; Lane, E Birgitte.

I: Journal of Investigative Dermatology, Bind 127, Nr. 10, 01.10.2007, s. 2336-2344.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Multiple self-healing squamous epithelioma in different ethnic groups: 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 - 2007/10/1

Y1 - 2007/10/1

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 Screening

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 - Journal article

C2 - 17554363

VL - 127

SP - 2336

EP - 2344

JO - The Journal of Investigative Dermatology

JF - The Journal of Investigative Dermatology

SN - 0022-202X

IS - 10

ER -