Lymphedema in tuberous sclerosis complex.
Identifieur interne : 002880 ( Main/Exploration ); précédent : 002879; suivant : 002881Lymphedema in tuberous sclerosis complex.
Auteurs : Alexandra L. Geffrey [États-Unis] ; Julianna E. Shinnick ; Brigid A. Staley ; Susana Boronat ; Elizabeth A. ThieleSource :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2014.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Lymphoedème (), Lymphoedème (génétique), Lymphoedème (épidémiologie), Mâle, Nourrisson, Nouveau-né, Protéines suppresseurs de tumeurs (génétique), Sclérose tubéreuse du cerveau (anatomopathologie), Sclérose tubéreuse du cerveau (génétique), Sclérose tubéreuse du cerveau (épidémiologie), Sérine-thréonine kinases TOR (génétique), Études rétrospectives.
- MESH :
- anatomopathologie : Sclérose tubéreuse du cerveau.
- génétique : Lymphoedème, Protéines suppresseurs de tumeurs, Sclérose tubéreuse du cerveau, Sérine-thréonine kinases TOR.
- épidémiologie : Lymphoedème, Sclérose tubéreuse du cerveau.
- Adolescent, Adulte, Adulte d'âge moyen, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Lymphoedème, Mâle, Nourrisson, Nouveau-né, Études rétrospectives.
English descriptors
- KwdEn :
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Lymphedema (complications), Lymphedema (epidemiology), Lymphedema (genetics), Male, Middle Aged, Retrospective Studies, TOR Serine-Threonine Kinases (genetics), Tuberous Sclerosis (epidemiology), Tuberous Sclerosis (genetics), Tuberous Sclerosis (pathology), Tumor Suppressor Proteins (genetics).
- MESH :
- chemical , genetics : TOR Serine-Threonine Kinases, Tumor Suppressor Proteins.
- complications : Lymphedema.
- epidemiology : Lymphedema, Tuberous Sclerosis.
- genetics : Lymphedema, Tuberous Sclerosis.
- pathology : Tuberous Sclerosis.
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Retrospective Studies.
Abstract
Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pathway. The aim of this study is to review cases of lymphedema in a large cohort of TSC patients. The medical records of 268 patients seen at The Herscot Center for Children and Adults with Tuberous Sclerosis Complex at the Massachusetts General Hospital from 2002 to 2012 were retrospectively reviewed for reports of lymphedema or edema of unknown etiology. Genotypic and phenotypic data were collected in accordance with institutional review board (IRB) approval. This cohort presents two new cases of congenital lymphedema in TSC patients and acquired lymphedema was found in eight additional cases. Thus, we report 10 new cases of lymphedema in TSC (4%). The two patients with congenital lymphedema were female, as were the previous six reported cases. The frequency of lymphedema reported here (4%) is higher than the estimated prevalence in the general population (0.133-0.144%), suggesting a higher frequency of lymphedema in TSC. This study shows that patients with TSC and lymphedema are more likely to be females with renal AMLs and suggests that congenital lymphedema is a gender-specific (female) manifestation of TSC. Exploration of the potential role of mTOR antagonists may be important in treatment of lymphedema in TSC patients.
DOI: 10.1002/ajmg.a.36469
PubMed: 24668795
Affiliations:
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Le document en format XML
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Geffrey</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Neurology, Massachusetts General Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Shinnick, Julianna E" sort="Shinnick, Julianna E" uniqKey="Shinnick J" first="Julianna E" last="Shinnick">Julianna E. Shinnick</name></author><author><name sortKey="Staley, Brigid A" sort="Staley, Brigid A" uniqKey="Staley B" first="Brigid A" last="Staley">Brigid A. Staley</name></author><author><name sortKey="Boronat, Susana" sort="Boronat, Susana" uniqKey="Boronat S" first="Susana" last="Boronat">Susana Boronat</name></author><author><name sortKey="Thiele, Elizabeth A" sort="Thiele, Elizabeth A" uniqKey="Thiele E" first="Elizabeth A" last="Thiele">Elizabeth A. Thiele</name></author></analytic><series><title level="j">American journal of medical genetics. Part A</title><idno type="eISSN">1552-4833</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Lymphedema (complications)</term><term>Lymphedema (epidemiology)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Middle Aged</term><term>Retrospective Studies</term><term>TOR Serine-Threonine Kinases (genetics)</term><term>Tuberous Sclerosis (epidemiology)</term><term>Tuberous Sclerosis (genetics)</term><term>Tuberous Sclerosis (pathology)</term><term>Tumor Suppressor Proteins (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (épidémiologie)</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Protéines suppresseurs de tumeurs (génétique)</term><term>Sclérose tubéreuse du cerveau (anatomopathologie)</term><term>Sclérose tubéreuse du cerveau (génétique)</term><term>Sclérose tubéreuse du cerveau (épidémiologie)</term><term>Sérine-thréonine kinases TOR (génétique)</term><term>Études rétrospectives</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>TOR Serine-Threonine Kinases</term><term>Tumor Suppressor Proteins</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Sclérose tubéreuse du cerveau</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Lymphedema</term><term>Tuberous Sclerosis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term><term>Tuberous Sclerosis</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term><term>Protéines suppresseurs de tumeurs</term><term>Sclérose tubéreuse du cerveau</term><term>Sérine-thréonine kinases TOR</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Tuberous Sclerosis</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Lymphoedème</term><term>Sclérose tubéreuse du cerveau</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Middle Aged</term><term>Retrospective Studies</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Lymphoedème</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Études rétrospectives</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pathway. The aim of this study is to review cases of lymphedema in a large cohort of TSC patients. The medical records of 268 patients seen at The Herscot Center for Children and Adults with Tuberous Sclerosis Complex at the Massachusetts General Hospital from 2002 to 2012 were retrospectively reviewed for reports of lymphedema or edema of unknown etiology. Genotypic and phenotypic data were collected in accordance with institutional review board (IRB) approval. This cohort presents two new cases of congenital lymphedema in TSC patients and acquired lymphedema was found in eight additional cases. Thus, we report 10 new cases of lymphedema in TSC (4%). The two patients with congenital lymphedema were female, as were the previous six reported cases. The frequency of lymphedema reported here (4%) is higher than the estimated prevalence in the general population (0.133-0.144%), suggesting a higher frequency of lymphedema in TSC. This study shows that patients with TSC and lymphedema are more likely to be females with renal AMLs and suggests that congenital lymphedema is a gender-specific (female) manifestation of TSC. Exploration of the potential role of mTOR antagonists may be important in treatment of lymphedema in TSC patients.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Massachusetts</li></region></list><tree><noCountry><name sortKey="Boronat, Susana" sort="Boronat, Susana" uniqKey="Boronat S" first="Susana" last="Boronat">Susana Boronat</name><name sortKey="Shinnick, Julianna E" sort="Shinnick, Julianna E" uniqKey="Shinnick J" first="Julianna E" last="Shinnick">Julianna E. Shinnick</name><name sortKey="Staley, Brigid A" sort="Staley, Brigid A" uniqKey="Staley B" first="Brigid A" last="Staley">Brigid A. Staley</name><name sortKey="Thiele, Elizabeth A" sort="Thiele, Elizabeth A" uniqKey="Thiele E" first="Elizabeth A" last="Thiele">Elizabeth A. Thiele</name></noCountry><country name="États-Unis"><region name="Massachusetts"><name sortKey="Geffrey, Alexandra L" sort="Geffrey, Alexandra L" uniqKey="Geffrey A" first="Alexandra L" last="Geffrey">Alexandra L. Geffrey</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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