Beckwith-Wiedemann Syndrome and Primary Lymphedema of the Lower Extremity.
Identifieur interne : 000547 ( PubMed/Corpus ); précédent : 000546; suivant : 000548Beckwith-Wiedemann Syndrome and Primary Lymphedema of the Lower Extremity.
Auteurs : Usha E A. Beijnen ; Reid A. Maclellan ; Jeremy A. Goss ; Javier A. Couto ; Dennis J. Konczyk ; Arin K. GreeneSource :
- Pediatric dermatology [ 1525-1470 ] ; 2017.
English descriptors
- KwdEn :
- MESH :
- complications : Beckwith-Wiedemann Syndrome, Lymphedema.
- diagnostic imaging : Beckwith-Wiedemann Syndrome, Lymphedema.
- pathology : Lower Extremity.
- Child, Diagnostic Errors, Female, Humans, Lymphoscintigraphy.
Abstract
Beckwith-Wiedemann syndrome is the most common genetic overgrowth syndrome. Patients with Beckwith-Wiedemann syndrome may have hemihypertrophy, but their lymphatic vasculature is intact. We present a child with Beckwith-Wiedemann syndrome and lower extremity enlargement thought to be due to hemihypertrophy that was instead diagnosed with primary lymphedema. There are many causes of leg overgrowth in the pediatric population and misdiagnosis is common. While extremity enlargement secondary to hemihypertrophy may occur in 15% of patients with Beckwith-Wiedemann syndrome, progression and pitting edema only occur in primary lymphedema. This report highlights the importance of ensuring an accurate diagnosis so that patients are managed appropriately.
DOI: 10.1111/pde.13017
PubMed: 27778389
Links to Exploration step
pubmed:27778389Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Beckwith-Wiedemann Syndrome and Primary Lymphedema of the Lower Extremity.</title><author><name sortKey="Beijnen, Usha E A" sort="Beijnen, Usha E A" uniqKey="Beijnen U" first="Usha E A" last="Beijnen">Usha E A. Beijnen</name><affiliation><nlm:affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</nlm:affiliation></affiliation></author><author><name sortKey="Maclellan, Reid A" sort="Maclellan, Reid A" uniqKey="Maclellan R" first="Reid A" last="Maclellan">Reid A. Maclellan</name><affiliation><nlm:affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</nlm:affiliation></affiliation></author><author><name sortKey="Goss, Jeremy A" sort="Goss, Jeremy A" uniqKey="Goss J" first="Jeremy A" last="Goss">Jeremy A. Goss</name><affiliation><nlm:affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</nlm:affiliation></affiliation></author><author><name sortKey="Couto, Javier A" sort="Couto, Javier A" uniqKey="Couto J" first="Javier A" last="Couto">Javier A. Couto</name><affiliation><nlm:affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</nlm:affiliation></affiliation></author><author><name sortKey="Konczyk, Dennis J" sort="Konczyk, Dennis J" uniqKey="Konczyk D" first="Dennis J" last="Konczyk">Dennis J. Konczyk</name><affiliation><nlm:affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</nlm:affiliation></affiliation></author><author><name sortKey="Greene, Arin K" sort="Greene, Arin K" uniqKey="Greene A" first="Arin K" last="Greene">Arin K. Greene</name><affiliation><nlm:affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:27778389</idno><idno type="pmid">27778389</idno><idno type="doi">10.1111/pde.13017</idno><idno type="wicri:Area/PubMed/Corpus">000547</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000547</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Beckwith-Wiedemann Syndrome and Primary Lymphedema of the Lower Extremity.</title><author><name sortKey="Beijnen, Usha E A" sort="Beijnen, Usha E A" uniqKey="Beijnen U" first="Usha E A" last="Beijnen">Usha E A. Beijnen</name><affiliation><nlm:affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</nlm:affiliation></affiliation></author><author><name sortKey="Maclellan, Reid A" sort="Maclellan, Reid A" uniqKey="Maclellan R" first="Reid A" last="Maclellan">Reid A. Maclellan</name><affiliation><nlm:affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</nlm:affiliation></affiliation></author><author><name sortKey="Goss, Jeremy A" sort="Goss, Jeremy A" uniqKey="Goss J" first="Jeremy A" last="Goss">Jeremy A. Goss</name><affiliation><nlm:affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</nlm:affiliation></affiliation></author><author><name sortKey="Couto, Javier A" sort="Couto, Javier A" uniqKey="Couto J" first="Javier A" last="Couto">Javier A. Couto</name><affiliation><nlm:affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</nlm:affiliation></affiliation></author><author><name sortKey="Konczyk, Dennis J" sort="Konczyk, Dennis J" uniqKey="Konczyk D" first="Dennis J" last="Konczyk">Dennis J. Konczyk</name><affiliation><nlm:affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</nlm:affiliation></affiliation></author><author><name sortKey="Greene, Arin K" sort="Greene, Arin K" uniqKey="Greene A" first="Arin K" last="Greene">Arin K. Greene</name><affiliation><nlm:affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Pediatric dermatology</title><idno type="eISSN">1525-1470</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Beckwith-Wiedemann Syndrome (complications)</term><term>Beckwith-Wiedemann Syndrome (diagnostic imaging)</term><term>Child</term><term>Diagnostic Errors</term><term>Female</term><term>Humans</term><term>Lower Extremity (pathology)</term><term>Lymphedema (complications)</term><term>Lymphedema (diagnostic imaging)</term><term>Lymphoscintigraphy</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Beckwith-Wiedemann Syndrome</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Beckwith-Wiedemann Syndrome</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lower Extremity</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Diagnostic Errors</term><term>Female</term><term>Humans</term><term>Lymphoscintigraphy</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Beckwith-Wiedemann syndrome is the most common genetic overgrowth syndrome. Patients with Beckwith-Wiedemann syndrome may have hemihypertrophy, but their lymphatic vasculature is intact. We present a child with Beckwith-Wiedemann syndrome and lower extremity enlargement thought to be due to hemihypertrophy that was instead diagnosed with primary lymphedema. There are many causes of leg overgrowth in the pediatric population and misdiagnosis is common. While extremity enlargement secondary to hemihypertrophy may occur in 15% of patients with Beckwith-Wiedemann syndrome, progression and pitting edema only occur in primary lymphedema. This report highlights the importance of ensuring an accurate diagnosis so that patients are managed appropriately.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27778389</PMID><DateCreated><Year>2016</Year><Month>10</Month><Day>25</Day></DateCreated><DateCompleted><Year>2017</Year><Month>04</Month><Day>27</Day></DateCompleted><DateRevised><Year>2017</Year><Month>04</Month><Day>27</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1525-1470</ISSN><JournalIssue CitedMedium="Internet"><Volume>34</Volume><Issue>1</Issue><PubDate><Year>2017</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Pediatric dermatology</Title><ISOAbbreviation>Pediatr Dermatol</ISOAbbreviation></Journal><ArticleTitle>Beckwith-Wiedemann Syndrome and Primary Lymphedema of the Lower Extremity.</ArticleTitle><Pagination><MedlinePgn>e51-e53</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1111/pde.13017</ELocationID><Abstract><AbstractText>Beckwith-Wiedemann syndrome is the most common genetic overgrowth syndrome. Patients with Beckwith-Wiedemann syndrome may have hemihypertrophy, but their lymphatic vasculature is intact. We present a child with Beckwith-Wiedemann syndrome and lower extremity enlargement thought to be due to hemihypertrophy that was instead diagnosed with primary lymphedema. There are many causes of leg overgrowth in the pediatric population and misdiagnosis is common. While extremity enlargement secondary to hemihypertrophy may occur in 15% of patients with Beckwith-Wiedemann syndrome, progression and pitting edema only occur in primary lymphedema. This report highlights the importance of ensuring an accurate diagnosis so that patients are managed appropriately.</AbstractText><CopyrightInformation>© 2016 Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Beijnen</LastName><ForeName>Usha E A</ForeName><Initials>UE</Initials><AffiliationInfo><Affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Maclellan</LastName><ForeName>Reid A</ForeName><Initials>RA</Initials><AffiliationInfo><Affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Goss</LastName><ForeName>Jeremy A</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Couto</LastName><ForeName>Javier A</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Konczyk</LastName><ForeName>Dennis J</ForeName><Initials>DJ</Initials><AffiliationInfo><Affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Greene</LastName><ForeName>Arin K</ForeName><Initials>AK</Initials><AffiliationInfo><Affiliation>Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>10</Month><Day>25</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Pediatr Dermatol</MedlineTA><NlmUniqueID>8406799</NlmUniqueID><ISSNLinking>0736-8046</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D001506" MajorTopicYN="N">Beckwith-Wiedemann Syndrome</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003951" MajorTopicYN="N">Diagnostic Errors</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D035002" MajorTopicYN="N">Lower Extremity</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D061305" MajorTopicYN="N">Lymphoscintigraphy</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>10</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>4</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>10</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27778389</ArticleId><ArticleId IdType="doi">10.1111/pde.13017</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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