Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism
Identifieur interne : 005522 ( Main/Exploration ); précédent : 005521; suivant : 005523Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism
Auteurs : Moritz Felcht [Allemagne] ; Nicola Dikow [Allemagne] ; Matthias Goebeler [Allemagne] ; Philipp Stroebel [Allemagne] ; Nina Booken [Allemagne] ; Urs Vo Merb Umer [Allemagne] ; Kirsten Merx [Allemagne] ; Thomas Henzler [Allemagne] ; Alexander Marx [Allemagne] ; Ute Moog [Allemagne] ; Sergij Goerdt [Allemagne] ; Claus-Detlev Klemke [Allemagne]Source :
- BMJ Case Reports [ 1757-790X ] ; 2010.
Descripteurs français
- KwdFr :
- MESH :
- diagnostic : Syndrome de Noonan.
- Adulte d'âge moyen, Chyle, Diagnostic différentiel, Humains, Lymphangiectasie, Mâle, Verrues.
English descriptors
- KwdEn :
- MESH :
- congenital : Lymphangiectasis, Warts.
- diagnosis : Noonan Syndrome.
- Chyle, Diagnosis, Differential, Humans, Male, Middle Aged.
Abstract
We present the case of a 49-year-old Caucasian man whose main complaints were wart-like skin changes and scrotal lymphoedema. Furthermore, our patient showed signs of a common hereditary disease: lymphoedema, short stature, webbed neck, low frontal and posterior hairline, downslanting palpebral fissures, pale blue iris, broad nose, flat philtrum, and prominent nasolabial folds. His ears were low set and retroverted with a thick helix. However, no diagnosis was made for 49 years. The interdisciplinary dialogue of various specialists to make the final diagnosis is presented and discussed.
Url:
DOI: 10.1136/bcr.08.2009.2214
PubMed: 22750922
PubMed Central: 3047285
Affiliations:
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last="Dikow">Nicola Dikow</name><affiliation wicri:level="3"><nlm:aff id="aff2"><addr-line>Ruprecht-Karl-University of Heidelberg, Institute of Human Genetics, Im Neuenheimer Feld 366, Heidelberg, 69120, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Ruprecht-Karl-University of Heidelberg, Institute of Human Genetics, Im Neuenheimer Feld 366, Heidelberg, 69120</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Goebeler, Matthias" sort="Goebeler, Matthias" uniqKey="Goebeler M" first="Matthias" last="Goebeler">Matthias Goebeler</name><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>University of Giessen and Marburg, Department of Dermatology, Venerology and Allergology, Gaffkystr. 14, Gießen, 35385, Germany</addr-line></nlm:aff><country 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type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Booken, Nina" sort="Booken, Nina" uniqKey="Booken N" first="Nina" last="Booken">Nina Booken</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>University Medicine of Mannheim, Department of Dermatology, Venerology and Allergology, Theodor-Kutzer-Ufer 1-3, Mannheim, 68167, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>University Medicine of Mannheim, Department of Dermatology, Venerology and Allergology, Theodor-Kutzer-Ufer 1-3, Mannheim, 68167</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Vo Merb Umer, Urs" sort="Vo Merb Umer, Urs" uniqKey="Vo Merb Umer U" first="Urs" last="Vo Merb Umer">Urs Vo Merb Umer</name><affiliation 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and Oncology, Theodor-Kutzer-Ufer, Mannheim, 68167</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Henzler, Thomas" sort="Henzler, Thomas" uniqKey="Henzler T" first="Thomas" last="Henzler">Thomas Henzler</name><affiliation wicri:level="3"><nlm:aff id="aff7"><addr-line>University of Medicine Mannheim, Department of Radiology, Theodor-Kutzer-Ufer, Mannheim, 68167, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Medicine Mannheim, Department of Radiology, Theodor-Kutzer-Ufer, Mannheim, 68167</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name 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Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>University Medicine of Mannheim, Department of Dermatology, Venerology and Allergology, Theodor-Kutzer-Ufer 1-3, Mannheim, 68167</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Dikow, Nicola" sort="Dikow, Nicola" uniqKey="Dikow N" first="Nicola" last="Dikow">Nicola Dikow</name><affiliation wicri:level="3"><nlm:aff id="aff2"><addr-line>Ruprecht-Karl-University of Heidelberg, Institute of Human Genetics, Im Neuenheimer Feld 366, Heidelberg, 69120, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Ruprecht-Karl-University of Heidelberg, Institute of Human Genetics, Im Neuenheimer Feld 366, Heidelberg, 69120</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Goebeler, Matthias" sort="Goebeler, Matthias" uniqKey="Goebeler M" first="Matthias" last="Goebeler">Matthias Goebeler</name><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>University of Giessen and Marburg, Department of Dermatology, Venerology and Allergology, Gaffkystr. 14, Gießen, 35385, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Giessen and Marburg, Department of Dermatology, Venerology and Allergology, Gaffkystr. 14, Gießen, 35385</wicri:regionArea><wicri:noRegion>35385</wicri:noRegion><wicri:noRegion>35385</wicri:noRegion><wicri:noRegion>35385</wicri:noRegion></affiliation></author><author><name sortKey="Stroebel, Philipp" sort="Stroebel, Philipp" uniqKey="Stroebel P" first="Philipp" last="Stroebel">Philipp Stroebel</name><affiliation wicri:level="3"><nlm:aff id="aff4"><addr-line>University of Medicine Mannheim, Department of Pathology, Theodor-Kutzer-Ufer, Mannheim, 68167, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Medicine Mannheim, Department of Pathology, Theodor-Kutzer-Ufer, Mannheim, 68167</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Booken, Nina" sort="Booken, Nina" uniqKey="Booken N" first="Nina" last="Booken">Nina Booken</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>University Medicine of Mannheim, Department of Dermatology, Venerology and Allergology, Theodor-Kutzer-Ufer 1-3, Mannheim, 68167, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>University Medicine of Mannheim, Department of Dermatology, Venerology and Allergology, Theodor-Kutzer-Ufer 1-3, Mannheim, 68167</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Vo Merb Umer, Urs" sort="Vo Merb Umer, Urs" uniqKey="Vo Merb Umer U" first="Urs" last="Vo Merb Umer">Urs Vo Merb Umer</name><affiliation wicri:level="3"><nlm:aff id="aff5"><addr-line>University of Medicine Mannheim, Department of Ophthalmology, Theodor-Kutzer-Ufer, Mannheim, 68167, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Medicine Mannheim, Department of Ophthalmology, Theodor-Kutzer-Ufer, Mannheim, 68167</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Merx, Kirsten" sort="Merx, Kirsten" uniqKey="Merx K" first="Kirsten" last="Merx">Kirsten Merx</name><affiliation wicri:level="3"><nlm:aff id="aff6"><addr-line>University of Medicine Mannheim, Department of Hematology and Oncology, Theodor-Kutzer-Ufer, Mannheim, 68167, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Medicine Mannheim, Department of Hematology and Oncology, Theodor-Kutzer-Ufer, Mannheim, 68167</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Henzler, Thomas" sort="Henzler, Thomas" uniqKey="Henzler T" first="Thomas" last="Henzler">Thomas Henzler</name><affiliation wicri:level="3"><nlm:aff id="aff7"><addr-line>University of Medicine Mannheim, Department of Radiology, Theodor-Kutzer-Ufer, Mannheim, 68167, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Medicine Mannheim, Department of Radiology, Theodor-Kutzer-Ufer, Mannheim, 68167</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Marx, Alexander" sort="Marx, Alexander" uniqKey="Marx A" first="Alexander" last="Marx">Alexander Marx</name><affiliation wicri:level="3"><nlm:aff id="aff4"><addr-line>University of Medicine Mannheim, Department of Pathology, Theodor-Kutzer-Ufer, Mannheim, 68167, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>University of Medicine Mannheim, Department of Pathology, Theodor-Kutzer-Ufer, Mannheim, 68167</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Moog, Ute" sort="Moog, Ute" uniqKey="Moog U" first="Ute" last="Moog">Ute Moog</name><affiliation wicri:level="3"><nlm:aff id="aff2"><addr-line>Ruprecht-Karl-University of Heidelberg, Institute of Human Genetics, Im Neuenheimer Feld 366, Heidelberg, 69120, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Ruprecht-Karl-University of Heidelberg, Institute of Human Genetics, Im Neuenheimer Feld 366, Heidelberg, 69120</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Goerdt, Sergij" sort="Goerdt, Sergij" uniqKey="Goerdt S" first="Sergij" last="Goerdt">Sergij Goerdt</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>University Medicine of Mannheim, Department of Dermatology, Venerology and Allergology, Theodor-Kutzer-Ufer 1-3, Mannheim, 68167, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>University Medicine of Mannheim, Department of Dermatology, Venerology and Allergology, Theodor-Kutzer-Ufer 1-3, Mannheim, 68167</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author><author><name sortKey="Klemke, Claus Detlev" sort="Klemke, Claus Detlev" uniqKey="Klemke C" first="Claus-Detlev" last="Klemke">Claus-Detlev Klemke</name><affiliation wicri:level="3"><nlm:aff id="aff1"><addr-line>University Medicine of Mannheim, Department of Dermatology, Venerology and Allergology, Theodor-Kutzer-Ufer 1-3, Mannheim, 68167, Germany</addr-line></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>University Medicine of Mannheim, Department of Dermatology, Venerology and Allergology, Theodor-Kutzer-Ufer 1-3, Mannheim, 68167</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Mannheim</settlement></placeName></affiliation></author></analytic><series><title level="j">BMJ Case Reports</title><idno type="eISSN">1757-790X</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chyle</term><term>Diagnosis, Differential</term><term>Humans</term><term>Lymphangiectasis (congenital)</term><term>Male</term><term>Middle Aged</term><term>Noonan Syndrome (diagnosis)</term><term>Warts (congenital)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Chyle</term><term>Diagnostic différentiel</term><term>Humains</term><term>Lymphangiectasie ()</term><term>Mâle</term><term>Syndrome de Noonan (diagnostic)</term><term>Verrues ()</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphangiectasis</term><term>Warts</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Noonan Syndrome</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Syndrome de Noonan</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chyle</term><term>Diagnosis, Differential</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Chyle</term><term>Diagnostic différentiel</term><term>Humains</term><term>Lymphangiectasie</term><term>Mâle</term><term>Verrues</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>We present the case of a 49-year-old Caucasian man whose main complaints were wart-like skin changes and scrotal lymphoedema. Furthermore, our patient showed signs of a common hereditary disease: lymphoedema, short stature, webbed neck, low frontal and posterior hairline, downslanting palpebral fissures, pale blue iris, broad nose, flat philtrum, and prominent nasolabial folds. His ears were low set and retroverted with a thick helix. However, no diagnosis was made for 49 years. The interdisciplinary dialogue of various specialists to make the final diagnosis is presented and discussed.</p></div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bade-Wurtemberg</li><li>District de Karlsruhe</li></region><settlement><li>Heidelberg</li><li>Mannheim</li></settlement></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Felcht, Moritz" sort="Felcht, Moritz" uniqKey="Felcht M" first="Moritz" last="Felcht">Moritz Felcht</name></region><name sortKey="Booken, Nina" sort="Booken, Nina" uniqKey="Booken N" first="Nina" last="Booken">Nina Booken</name><name sortKey="Dikow, Nicola" sort="Dikow, Nicola" uniqKey="Dikow N" first="Nicola" last="Dikow">Nicola Dikow</name><name sortKey="Goebeler, Matthias" sort="Goebeler, Matthias" uniqKey="Goebeler M" first="Matthias" last="Goebeler">Matthias Goebeler</name><name sortKey="Goerdt, Sergij" sort="Goerdt, Sergij" uniqKey="Goerdt S" first="Sergij" last="Goerdt">Sergij Goerdt</name><name sortKey="Henzler, Thomas" sort="Henzler, Thomas" uniqKey="Henzler T" first="Thomas" last="Henzler">Thomas Henzler</name><name sortKey="Klemke, Claus Detlev" sort="Klemke, Claus Detlev" uniqKey="Klemke C" first="Claus-Detlev" last="Klemke">Claus-Detlev Klemke</name><name sortKey="Marx, Alexander" sort="Marx, Alexander" uniqKey="Marx A" first="Alexander" last="Marx">Alexander Marx</name><name sortKey="Merx, Kirsten" sort="Merx, Kirsten" uniqKey="Merx K" first="Kirsten" last="Merx">Kirsten Merx</name><name sortKey="Moog, Ute" sort="Moog, Ute" uniqKey="Moog U" first="Ute" last="Moog">Ute Moog</name><name sortKey="Stroebel, Philipp" sort="Stroebel, Philipp" uniqKey="Stroebel P" first="Philipp" last="Stroebel">Philipp Stroebel</name><name sortKey="Vo Merb Umer, Urs" sort="Vo Merb Umer, Urs" uniqKey="Vo Merb Umer U" first="Urs" last="Vo Merb Umer">Urs Vo Merb Umer</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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