Halo nevus, rather than vitiligo, is a typical dermatologic finding of turner's syndrome: clinical, genetic, and immunogenetic study in 72 patients.
Identifieur interne : 008795 ( Main/Exploration ); précédent : 008794; suivant : 008796Halo nevus, rather than vitiligo, is a typical dermatologic finding of turner's syndrome: clinical, genetic, and immunogenetic study in 72 patients.
Auteurs : Valeria Brazzelli [Italie] ; Daniela Larizza ; Miriam Martinetti ; Sara Martinoli ; Valeria Calcaterra ; Annalisa De Silvestri ; Roberta Pandolfi ; Giovanni BorroniSource :
- Journal of the American Academy of Dermatology [ 1097-6787 ] ; 2004.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Antigènes HLA (génétique), Caryotypage, Donneurs de sang, Enfant, Enfant d'âge préscolaire, Femelle, Fréquence d'allèle, Groupes ethniques (génétique), Gènes MHC de classe I, Gènes MHC de classe II, Génotype, Humains, Italie (épidémiologie), Naevus pigmentaire (épidémiologie), Naevus pigmentaire (étiologie), Oestrogènes (usage thérapeutique), Polymorphisme génétique, Prévalence, Syndrome de Turner (), Syndrome de Turner (génétique), Syndrome de Turner (traitement médicamenteux), Syndrome de Turner (épidémiologie), Vitiligo (épidémiologie), Vitiligo (étiologie).
- MESH :
- génétique : Antigènes HLA, Groupes ethniques, Syndrome de Turner.
- traitement médicamenteux : Syndrome de Turner.
- usage thérapeutique : Oestrogènes.
- épidémiologie : Italie, Naevus pigmentaire, Syndrome de Turner, Vitiligo.
- étiologie : Naevus pigmentaire, Vitiligo.
- Adolescent, Adulte, Caryotypage, Donneurs de sang, Enfant, Enfant d'âge préscolaire, Femelle, Fréquence d'allèle, Gènes MHC de classe I, Gènes MHC de classe II, Génotype, Humains, Polymorphisme génétique, Prévalence, Syndrome de Turner.
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- Adolescent, Adult, Blood Donors, Child, Child, Preschool, Estrogens (therapeutic use), Ethnic Groups (genetics), Female, Gene Frequency, Genes, MHC Class I, Genes, MHC Class II, Genotype, HLA Antigens (genetics), Humans, Italy (epidemiology), Karyotyping, Nevus, Pigmented (epidemiology), Nevus, Pigmented (etiology), Polymorphism, Genetic, Prevalence, Turner Syndrome (complications), Turner Syndrome (drug therapy), Turner Syndrome (epidemiology), Turner Syndrome (genetics), Vitiligo (epidemiology), Vitiligo (etiology).
- MESH :
- chemical , genetics : HLA Antigens.
- chemical , therapeutic use : Estrogens.
- geographic , epidemiology : Italy.
- complications : Turner Syndrome.
- drug therapy : Turner Syndrome.
- epidemiology : Nevus, Pigmented, Turner Syndrome, Vitiligo.
- etiology : Nevus, Pigmented, Vitiligo.
- genetics : Ethnic Groups, Turner Syndrome.
- Adolescent, Adult, Blood Donors, Child, Child, Preschool, Female, Gene Frequency, Genes, MHC Class I, Genes, MHC Class II, Genotype, Humans, Karyotyping, Polymorphism, Genetic, Prevalence.
Abstract
Turner's syndrome (TS) is a genetic disorder caused by numeric and/or structural abnormalities of the X chromosome; it is characterized by short stature, gonadal dysgenesis, and frequently by webbed neck, cubitus valgus, and lymphedema at birth. TS has been associated with several cutaneous abnormalities including an increased frequency of pigmented nevi, but few reports consider nevi in detail. Halo nevus (HN) is clinically defined as a melanocytic nevus surrounded by a halo of depigmentation. Vitiligo, a dermatologic disorder characterized by the presence of depigmented patches on the skin, has been described in the list of cutaneous findings associated with TS. The aim of this study was to determine the prevalence of HN and vitiligo in TS and to evaluate if a correlation between major histocompatibility complex genes, karyotype, autoimmunity, therapies, and the presence of HN exists. Of the 72 patients with TS examined, 13 had HN, a prevalence of 18.05%, which was significantly higher than in our control group (1%; P=.000001). On the contrary, only 2 patients with TS (2.77%, P=not significant) had vitiligo. By comparing the distribution of HLA class I alleles between patients with TS who did (13 of 72) and did not (59 of 72) have HN, we observed a significantly higher frequency of HLA-Cw6 in patients with TS and HN than in those without HN (26.92% vs 6.78%, respectively; P=.0067; odds ratio=5.06). The study of HLA class II genomic polymorphisms showed that the DRB1(*)0701 and DQB1*02 alleles for patients with TS and HN were overrepresented when compared with those without HN (34.61% vs 11.86%, respectively, P=.0078, odds ratio=3.93; and 34.61% vs 19.49%, respectively, P=.1386, odds ratio=2.19). In conclusion, this study is the first to demonstrate an increased prevalence of HN for patients with TS. Furthermore, the data suggest that a HN putative susceptibility gene in TS is located close to the HLA-C locus.
DOI: 10.1016/j.jaad.2003.11.082
PubMed: 15337976
Affiliations:
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Matteo</wicri:noRegion></affiliation></author><author><name sortKey="Larizza, Daniela" sort="Larizza, Daniela" uniqKey="Larizza D" first="Daniela" last="Larizza">Daniela Larizza</name></author><author><name sortKey="Martinetti, Miriam" sort="Martinetti, Miriam" uniqKey="Martinetti M" first="Miriam" last="Martinetti">Miriam Martinetti</name></author><author><name sortKey="Martinoli, Sara" sort="Martinoli, Sara" uniqKey="Martinoli S" first="Sara" last="Martinoli">Sara Martinoli</name></author><author><name sortKey="Calcaterra, Valeria" sort="Calcaterra, Valeria" uniqKey="Calcaterra V" first="Valeria" last="Calcaterra">Valeria Calcaterra</name></author><author><name sortKey="De Silvestri, Annalisa" sort="De Silvestri, Annalisa" uniqKey="De Silvestri A" first="Annalisa" last="De Silvestri">Annalisa De Silvestri</name></author><author><name sortKey="Pandolfi, Roberta" sort="Pandolfi, Roberta" uniqKey="Pandolfi R" first="Roberta" last="Pandolfi">Roberta Pandolfi</name></author><author><name sortKey="Borroni, Giovanni" sort="Borroni, Giovanni" uniqKey="Borroni G" first="Giovanni" last="Borroni">Giovanni Borroni</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2004">2004</date><idno type="RBID">pubmed:15337976</idno><idno type="pmid">15337976</idno><idno type="doi">10.1016/j.jaad.2003.11.082</idno><idno type="wicri:Area/PubMed/Corpus">003F14</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003F14</idno><idno type="wicri:Area/PubMed/Curation">003F14</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003F14</idno><idno type="wicri:Area/PubMed/Checkpoint">003F14</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003F14</idno><idno type="wicri:Area/Ncbi/Merge">001B14</idno><idno type="wicri:Area/Ncbi/Curation">001B14</idno><idno type="wicri:Area/Ncbi/Checkpoint">001B14</idno><idno type="wicri:Area/Main/Merge">008A52</idno><idno type="wicri:Area/Main/Curation">008795</idno><idno type="wicri:Area/Main/Exploration">008795</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Halo nevus, rather than vitiligo, is a typical dermatologic finding of turner's syndrome: clinical, genetic, and immunogenetic study in 72 patients.</title><author><name sortKey="Brazzelli, Valeria" sort="Brazzelli, Valeria" uniqKey="Brazzelli V" first="Valeria" last="Brazzelli">Valeria Brazzelli</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human and Hereditary Pathology, Institute of Dermatology, University of Pavia and IRCCS Policlinico S. Matteo, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Human and Hereditary Pathology, Institute of Dermatology, University of Pavia and IRCCS Policlinico S. Matteo</wicri:regionArea><wicri:noRegion>University of Pavia and IRCCS Policlinico S. Matteo</wicri:noRegion></affiliation></author><author><name sortKey="Larizza, Daniela" sort="Larizza, Daniela" uniqKey="Larizza D" first="Daniela" last="Larizza">Daniela Larizza</name></author><author><name sortKey="Martinetti, Miriam" sort="Martinetti, Miriam" uniqKey="Martinetti M" first="Miriam" last="Martinetti">Miriam Martinetti</name></author><author><name sortKey="Martinoli, Sara" sort="Martinoli, Sara" uniqKey="Martinoli S" first="Sara" last="Martinoli">Sara Martinoli</name></author><author><name sortKey="Calcaterra, Valeria" sort="Calcaterra, Valeria" uniqKey="Calcaterra V" first="Valeria" last="Calcaterra">Valeria Calcaterra</name></author><author><name sortKey="De Silvestri, Annalisa" sort="De Silvestri, Annalisa" uniqKey="De Silvestri A" first="Annalisa" last="De Silvestri">Annalisa De Silvestri</name></author><author><name sortKey="Pandolfi, Roberta" sort="Pandolfi, Roberta" uniqKey="Pandolfi R" first="Roberta" last="Pandolfi">Roberta Pandolfi</name></author><author><name sortKey="Borroni, Giovanni" sort="Borroni, Giovanni" uniqKey="Borroni G" first="Giovanni" last="Borroni">Giovanni Borroni</name></author></analytic><series><title level="j">Journal of the American Academy of Dermatology</title><idno type="eISSN">1097-6787</idno><imprint><date when="2004" type="published">2004</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Blood Donors</term><term>Child</term><term>Child, Preschool</term><term>Estrogens (therapeutic use)</term><term>Ethnic Groups (genetics)</term><term>Female</term><term>Gene Frequency</term><term>Genes, MHC Class I</term><term>Genes, MHC Class II</term><term>Genotype</term><term>HLA Antigens (genetics)</term><term>Humans</term><term>Italy (epidemiology)</term><term>Karyotyping</term><term>Nevus, Pigmented (epidemiology)</term><term>Nevus, Pigmented (etiology)</term><term>Polymorphism, Genetic</term><term>Prevalence</term><term>Turner Syndrome (complications)</term><term>Turner Syndrome (drug therapy)</term><term>Turner Syndrome (epidemiology)</term><term>Turner Syndrome (genetics)</term><term>Vitiligo (epidemiology)</term><term>Vitiligo (etiology)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Antigènes HLA (génétique)</term><term>Caryotypage</term><term>Donneurs de sang</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Fréquence d'allèle</term><term>Groupes ethniques (génétique)</term><term>Gènes MHC de classe I</term><term>Gènes MHC de classe II</term><term>Génotype</term><term>Humains</term><term>Italie (épidémiologie)</term><term>Naevus pigmentaire (épidémiologie)</term><term>Naevus pigmentaire (étiologie)</term><term>Oestrogènes (usage thérapeutique)</term><term>Polymorphisme génétique</term><term>Prévalence</term><term>Syndrome de Turner ()</term><term>Syndrome de Turner (génétique)</term><term>Syndrome de Turner (traitement médicamenteux)</term><term>Syndrome de Turner (épidémiologie)</term><term>Vitiligo (épidémiologie)</term><term>Vitiligo (étiologie)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>HLA Antigens</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Estrogens</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Nevus, Pigmented</term><term>Turner Syndrome</term><term>Vitiligo</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Nevus, Pigmented</term><term>Vitiligo</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ethnic Groups</term><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Antigènes HLA</term><term>Groupes ethniques</term><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Oestrogènes</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Italie</term><term>Naevus pigmentaire</term><term>Syndrome de Turner</term><term>Vitiligo</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Naevus pigmentaire</term><term>Vitiligo</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Blood Donors</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Gene Frequency</term><term>Genes, MHC Class I</term><term>Genes, MHC Class II</term><term>Genotype</term><term>Humans</term><term>Karyotyping</term><term>Polymorphism, Genetic</term><term>Prevalence</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Caryotypage</term><term>Donneurs de sang</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Fréquence d'allèle</term><term>Gènes MHC de classe I</term><term>Gènes MHC de classe II</term><term>Génotype</term><term>Humains</term><term>Polymorphisme génétique</term><term>Prévalence</term><term>Syndrome de Turner</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Turner's syndrome (TS) is a genetic disorder caused by numeric and/or structural abnormalities of the X chromosome; it is characterized by short stature, gonadal dysgenesis, and frequently by webbed neck, cubitus valgus, and lymphedema at birth. TS has been associated with several cutaneous abnormalities including an increased frequency of pigmented nevi, but few reports consider nevi in detail. Halo nevus (HN) is clinically defined as a melanocytic nevus surrounded by a halo of depigmentation. Vitiligo, a dermatologic disorder characterized by the presence of depigmented patches on the skin, has been described in the list of cutaneous findings associated with TS. The aim of this study was to determine the prevalence of HN and vitiligo in TS and to evaluate if a correlation between major histocompatibility complex genes, karyotype, autoimmunity, therapies, and the presence of HN exists. Of the 72 patients with TS examined, 13 had HN, a prevalence of 18.05%, which was significantly higher than in our control group (1%; P=.000001). On the contrary, only 2 patients with TS (2.77%, P=not significant) had vitiligo. By comparing the distribution of HLA class I alleles between patients with TS who did (13 of 72) and did not (59 of 72) have HN, we observed a significantly higher frequency of HLA-Cw6 in patients with TS and HN than in those without HN (26.92% vs 6.78%, respectively; P=.0067; odds ratio=5.06). The study of HLA class II genomic polymorphisms showed that the DRB1(*)0701 and DQB1*02 alleles for patients with TS and HN were overrepresented when compared with those without HN (34.61% vs 11.86%, respectively, P=.0078, odds ratio=3.93; and 34.61% vs 19.49%, respectively, P=.1386, odds ratio=2.19). In conclusion, this study is the first to demonstrate an increased prevalence of HN for patients with TS. Furthermore, the data suggest that a HN putative susceptibility gene in TS is located close to the HLA-C locus.</div></front></TEI><affiliations><list><country><li>Italie</li></country></list><tree><noCountry><name sortKey="Borroni, Giovanni" sort="Borroni, Giovanni" uniqKey="Borroni G" first="Giovanni" last="Borroni">Giovanni Borroni</name><name sortKey="Calcaterra, Valeria" sort="Calcaterra, Valeria" uniqKey="Calcaterra V" first="Valeria" last="Calcaterra">Valeria Calcaterra</name><name sortKey="De Silvestri, Annalisa" sort="De Silvestri, Annalisa" uniqKey="De Silvestri A" first="Annalisa" last="De Silvestri">Annalisa De Silvestri</name><name sortKey="Larizza, Daniela" sort="Larizza, Daniela" uniqKey="Larizza D" first="Daniela" last="Larizza">Daniela Larizza</name><name sortKey="Martinetti, Miriam" sort="Martinetti, Miriam" uniqKey="Martinetti M" first="Miriam" last="Martinetti">Miriam Martinetti</name><name sortKey="Martinoli, Sara" sort="Martinoli, Sara" uniqKey="Martinoli S" first="Sara" last="Martinoli">Sara Martinoli</name><name sortKey="Pandolfi, Roberta" sort="Pandolfi, Roberta" uniqKey="Pandolfi R" first="Roberta" last="Pandolfi">Roberta Pandolfi</name></noCountry><country name="Italie"><noRegion><name sortKey="Brazzelli, Valeria" sort="Brazzelli, Valeria" uniqKey="Brazzelli V" first="Valeria" last="Brazzelli">Valeria Brazzelli</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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