Skin manifestations among GATA2-deficient patients.
Identifieur interne : 000112 ( PubMed/Checkpoint ); précédent : 000111; suivant : 000113Skin manifestations among GATA2-deficient patients.
Auteurs : A. Polat [France] ; M. Dinulescu [France] ; S. Fraitag [France] ; S. Nimubona [France] ; F. Toutain [France] ; S. Jouneau [France] ; E. Poullot [France] ; C. Droitcourt [France] ; A. Dupuy [France]Source :
- The British journal of dermatology [ 1365-2133 ] ; 2017.
Abstract
GATA2 mutations have been identified in various diseases, such as monoMAC syndrome, Emberger syndrome, familial myelodysplastic syndrome, acute myeloid leukemia, and dendritic cell, monocyte, B and NK cell deficiency. These syndromes present a wide range of clinical features, dominated by severe infections and haematological disorders such as myelodysplastic syndrome. Up to 70% of GATA2-mutated patients have dermatological features, mainly genital or extra-genital warts, panniculitis or erythema nodosum, and lymphedema. We report 3 patients presenting with common dermatological and haematological features leading to the diagnosis of GATA2 deficiency, but also with skin manifestations that have not been previously described: gingival hypertrophy, macroglossitis and glossitis, and granulomatous lupoid facial lesions. Dermatologists can encounter GATA2-mutated patients and should recognize this disorder. This article is protected by copyright. All rights reserved.
DOI: 10.1111/bjd.15548
PubMed: 28440875
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Polat</name><affiliation wicri:level="3"><nlm:affiliation>Dermatology Department, CHU Rennes, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Dermatology Department, CHU Rennes, Rennes</wicri:regionArea><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Dinulescu, M" sort="Dinulescu, M" uniqKey="Dinulescu M" first="M" last="Dinulescu">M. Dinulescu</name><affiliation wicri:level="3"><nlm:affiliation>Dermatology Department, CHU Rennes, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Dermatology Department, CHU Rennes, Rennes</wicri:regionArea><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Fraitag, S" sort="Fraitag, S" uniqKey="Fraitag S" first="S" last="Fraitag">S. Fraitag</name><affiliation wicri:level="3"><nlm:affiliation>Pathology Department, Hopital Necker-Enfants Malades, APHP, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pathology Department, Hopital Necker-Enfants Malades, APHP, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Nimubona, S" sort="Nimubona, S" uniqKey="Nimubona S" first="S" last="Nimubona">S. 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Toutain</name><affiliation wicri:level="3"><nlm:affiliation>Pediatric Department, CHU Rennes, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pediatric Department, CHU Rennes, Rennes</wicri:regionArea><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Jouneau, S" sort="Jouneau, S" uniqKey="Jouneau S" first="S" last="Jouneau">S. Jouneau</name><affiliation wicri:level="3"><nlm:affiliation>Respiratory Department, CHU Rennes, Rennes, France; IRSET UMR 1085, Rennes 1 University, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Respiratory Department, CHU Rennes, Rennes, France; IRSET UMR 1085, Rennes 1 University, Rennes</wicri:regionArea><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Poullot, E" sort="Poullot, E" uniqKey="Poullot E" first="E" last="Poullot">E. Poullot</name><affiliation wicri:level="3"><nlm:affiliation>Pathology Department, CHU Rennes, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pathology Department, CHU Rennes, Rennes</wicri:regionArea><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Droitcourt, C" sort="Droitcourt, C" uniqKey="Droitcourt C" first="C" last="Droitcourt">C. Droitcourt</name><affiliation wicri:level="3"><nlm:affiliation>Dermatology Department, CHU Rennes, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Dermatology Department, CHU Rennes, Rennes</wicri:regionArea><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Dupuy, A" sort="Dupuy, A" uniqKey="Dupuy A" first="A" last="Dupuy">A. Dupuy</name><affiliation wicri:level="3"><nlm:affiliation>Dermatology Department, CHU Rennes, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Dermatology Department, CHU Rennes, Rennes</wicri:regionArea><placeName><region type="region">Région Bretagne</region><region type="old region">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></affiliation></author></analytic><series><title level="j">The British journal of dermatology</title><idno type="eISSN">1365-2133</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">GATA2 mutations have been identified in various diseases, such as monoMAC syndrome, Emberger syndrome, familial myelodysplastic syndrome, acute myeloid leukemia, and dendritic cell, monocyte, B and NK cell deficiency. These syndromes present a wide range of clinical features, dominated by severe infections and haematological disorders such as myelodysplastic syndrome. Up to 70% of GATA2-mutated patients have dermatological features, mainly genital or extra-genital warts, panniculitis or erythema nodosum, and lymphedema. We report 3 patients presenting with common dermatological and haematological features leading to the diagnosis of GATA2 deficiency, but also with skin manifestations that have not been previously described: gingival hypertrophy, macroglossitis and glossitis, and granulomatous lupoid facial lesions. Dermatologists can encounter GATA2-mutated patients and should recognize this disorder. This article is protected by copyright. All rights reserved.</div></front></TEI><pubmed><MedlineCitation Status="Publisher" Owner="NLM"><PMID Version="1">28440875</PMID><DateCreated><Year>2017</Year><Month>04</Month><Day>25</Day></DateCreated><DateRevised><Year>2017</Year><Month>04</Month><Day>25</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1365-2133</ISSN><JournalIssue CitedMedium="Internet"><PubDate><Year>2017</Year><Month>Apr</Month><Day>25</Day></PubDate></JournalIssue><Title>The British journal of dermatology</Title><ISOAbbreviation>Br. J. Dermatol.</ISOAbbreviation></Journal><ArticleTitle>Skin manifestations among GATA2-deficient patients.</ArticleTitle><ELocationID EIdType="doi" ValidYN="Y">10.1111/bjd.15548</ELocationID><Abstract><AbstractText>GATA2 mutations have been identified in various diseases, such as monoMAC syndrome, Emberger syndrome, familial myelodysplastic syndrome, acute myeloid leukemia, and dendritic cell, monocyte, B and NK cell deficiency. These syndromes present a wide range of clinical features, dominated by severe infections and haematological disorders such as myelodysplastic syndrome. Up to 70% of GATA2-mutated patients have dermatological features, mainly genital or extra-genital warts, panniculitis or erythema nodosum, and lymphedema. We report 3 patients presenting with common dermatological and haematological features leading to the diagnosis of GATA2 deficiency, but also with skin manifestations that have not been previously described: gingival hypertrophy, macroglossitis and glossitis, and granulomatous lupoid facial lesions. Dermatologists can encounter GATA2-mutated patients and should recognize this disorder. This article is protected by copyright. All rights reserved.</AbstractText><CopyrightInformation>This article is protected by copyright. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Polat</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Dermatology Department, CHU Rennes, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dinulescu</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Dermatology Department, CHU Rennes, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fraitag</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Pathology Department, Hopital Necker-Enfants Malades, APHP, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nimubona</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Haematology Department, CHU Rennes, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Toutain</LastName><ForeName>F</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Pediatric Department, CHU Rennes, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jouneau</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Respiratory Department, CHU Rennes, Rennes, France; IRSET UMR 1085, Rennes 1 University, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Poullot</LastName><ForeName>E</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Pathology Department, CHU Rennes, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Droitcourt</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Dermatology Department, CHU Rennes, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dupuy</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Dermatology Department, CHU Rennes, Rennes, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Rennes 1 University, Rennes, France; Institut Génétique et développement de Rennes UMR CNRS 6290, Rennes, France.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>04</Month><Day>25</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Br J Dermatol</MedlineTA><NlmUniqueID>0004041</NlmUniqueID><ISSNLinking>0007-0963</ISSNLinking></MedlineJournalInfo></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>4</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>4</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>4</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>aheadofprint</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28440875</ArticleId><ArticleId IdType="doi">10.1111/bjd.15548</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>France</li></country><region><li>Région Bretagne</li><li>Île-de-France</li></region><settlement><li>Paris</li><li>Rennes</li></settlement></list><tree><country name="France"><region name="Région Bretagne"><name sortKey="Polat, A" sort="Polat, A" uniqKey="Polat A" first="A" last="Polat">A. Polat</name></region><name sortKey="Dinulescu, M" sort="Dinulescu, M" uniqKey="Dinulescu M" first="M" last="Dinulescu">M. Dinulescu</name><name sortKey="Droitcourt, C" sort="Droitcourt, C" uniqKey="Droitcourt C" first="C" last="Droitcourt">C. Droitcourt</name><name sortKey="Dupuy, A" sort="Dupuy, A" uniqKey="Dupuy A" first="A" last="Dupuy">A. Dupuy</name><name sortKey="Fraitag, S" sort="Fraitag, S" uniqKey="Fraitag S" first="S" last="Fraitag">S. Fraitag</name><name sortKey="Jouneau, S" sort="Jouneau, S" uniqKey="Jouneau S" first="S" last="Jouneau">S. Jouneau</name><name sortKey="Nimubona, S" sort="Nimubona, S" uniqKey="Nimubona S" first="S" last="Nimubona">S. Nimubona</name><name sortKey="Poullot, E" sort="Poullot, E" uniqKey="Poullot E" first="E" last="Poullot">E. Poullot</name><name sortKey="Toutain, F" sort="Toutain, F" uniqKey="Toutain F" first="F" last="Toutain">F. Toutain</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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