Lymphoedema in tuberous sclerosis: case report and review of the literature.
Identifieur interne : 001455 ( PubMed/Curation ); précédent : 001454; suivant : 001456Lymphoedema in tuberous sclerosis: case report and review of the literature.
Auteurs : Pierre Navarre [Canada] ; Benoit PoitrasSource :
- Journal of pediatric orthopedics [ 1539-2570 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
- anatomopathologie : Membre inférieur, Peau.
- diagnostic : Sclérose tubéreuse du cerveau.
- étiologie : Lymphoedème.
- Adulte, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Maladies du prématuré, Mâle, Nouveau-né, Prématuré, Sclérose tubéreuse du cerveau.
English descriptors
- KwdEn :
- MESH :
- complications : Tuberous Sclerosis.
- diagnosis : Tuberous Sclerosis.
- etiology : Lymphedema.
- pathology : Lower Extremity, Skin.
- Adult, Child, Child, Preschool, Female, Humans, Infant, Newborn, Infant, Premature, Infant, Premature, Diseases, Male.
Abstract
Tuberous sclerosis has been associated with lower extremity lymphoedema in rare cases, only in females. Our objective was to increase present knowledge about this condition by describing this association of lower limb lymphoedema and tuberous sclerosis, however, in a male patient.
DOI: 10.1097/BPO.0000000000000240
PubMed: 24992349
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Our objective was to increase present knowledge about this condition by describing this association of lower limb lymphoedema and tuberous sclerosis, however, in a male patient.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24992349</PMID><DateCreated><Year>2014</Year><Month>08</Month><Day>15</Day></DateCreated><DateCompleted><Year>2014</Year><Month>10</Month><Day>10</Day></DateCompleted><DateRevised><Year>2014</Year><Month>08</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1539-2570</ISSN><JournalIssue CitedMedium="Internet"><Volume>34</Volume><Issue>6</Issue><PubDate><Year>2014</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Journal of pediatric orthopedics</Title><ISOAbbreviation>J Pediatr Orthop</ISOAbbreviation></Journal><ArticleTitle>Lymphoedema in tuberous sclerosis: case report and review of the literature.</ArticleTitle><Pagination><MedlinePgn>e27-32</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1097/BPO.0000000000000240</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Tuberous sclerosis has been associated with lower extremity lymphoedema in rare cases, only in females. Our objective was to increase present knowledge about this condition by describing this association of lower limb lymphoedema and tuberous sclerosis, however, in a male patient.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We report the case of a 5-year-old boy who presented with left lower limb congenital lymphoedema and was diagnosed with tuberous sclerosis 9 days after birth based on adequate clinical criteria. This patient's lymphoedema was severe and caused compartment syndrome requiring fasciotomies at 2 days after birth, numerous surgical interventions for chronic wounds and eventually necessitating several toe amputations. A biopsy confirmed benign vascular lymphatic malformation and genetic analysis confirmed the TSC2 mutation. A thorough literature review using the Medline database from 1948 to August 2013 was conducted to investigate the possible association between lower extremity lymphoedema and tuberous sclerosis.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Our literature review confirms that the 5 reported cases of the association between lower extremity lymphoedema and tuberous sclerosis were all in female patients. Our case is the first, to our knowledge, to identify that the cause of lymphoedema is biopsy-proven benign vascular lymphatic malformation and to confirm that this association may occur in male patients as well.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Although the true incidence is unknown, there exists a rare association between tuberous sclerosis and lower extremity lymphoedema, both in female and male patients, which may be severe and lead to compartment syndrome as well as other complications throughout development, including chronic wounds, eventually requiring amputations. A multidisciplinary team approach should be strongly considered.</AbstractText><AbstractText Label="LEVEL OF EVIDENCE" NlmCategory="METHODS">Level V (case report).</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Navarre</LastName><ForeName>Pierre</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Hôpital Sainte-Justine, Université de Montréal, Montréal, QC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Poitras</LastName><ForeName>Benoit</ForeName><Initials>B</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>J Pediatr Orthop</MedlineTA><NlmUniqueID>8109053</NlmUniqueID><ISSNLinking>0271-6798</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007234" MajorTopicYN="N">Infant, Premature</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007235" MajorTopicYN="Y">Infant, Premature, Diseases</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="Q000209" MajorTopicYN="Y">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012867" MajorTopicYN="N">Skin</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014402" MajorTopicYN="N">Tuberous Sclerosis</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>7</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>7</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>10</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">24992349</ArticleId><ArticleId IdType="doi">10.1097/BPO.0000000000000240</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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