Hereditary palmoplantar keratoderma associated with primary (congenital) lymphedema.
Identifieur interne : 006331 ( Main/Merge ); précédent : 006330; suivant : 006332Hereditary palmoplantar keratoderma associated with primary (congenital) lymphedema.
Auteurs : S O Ogunbiyi [Royaume-Uni] ; J. Deguara ; C. Moss ; K G BurnandSource :
- Lymphology [ 0024-7766 ] ; 2009.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- complications : Keratoderma, Palmoplantar, Lymphedema.
- congenital : Keratoderma, Palmoplantar, Lymphedema.
- genetics : Keratoderma, Palmoplantar, Lymphedema.
- Child, Preschool, Female, Humans, Male, Pedigree, Prognosis.
Abstract
The palmoplantar keratodermas are a heterogenous group of hereditary disorders of keratinization. They are characterized by epidermal thickening and a yellow waxy appearance of the palms and soles. Genetic studies have linked various forms of palmoplantar keratoderma to markers on chromosomes one, twelve, and seventeen, and several genes have been identified. Primary lymphedema is occasionally present at birth (congenital lymphedema or Milroy's disease), but more commonly develops at puberty (lymphedema praecox). Genetic studies have linked various autosomal dominant forms of primary lymphedema (Milroy's disease and lymphedema distichiasis), to genes on chromosomes five and sixteen respectively. We report a case of palmoplantar keratoderma in a child with congenital lymphedema. To our knowledge, this has not been previously described and may represent a new phenotype for future genetic study.
PubMed: 19725273
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Deguara</name></author><author><name sortKey="Moss, C" sort="Moss, C" uniqKey="Moss C" first="C" last="Moss">C. Moss</name></author><author><name sortKey="Burnand, K G" sort="Burnand, K G" uniqKey="Burnand K" first="K G" last="Burnand">K G Burnand</name></author></analytic><series><title level="j">Lymphology</title><idno type="ISSN">0024-7766</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Keratoderma, Palmoplantar (complications)</term><term>Keratoderma, Palmoplantar (congenital)</term><term>Keratoderma, Palmoplantar (genetics)</term><term>Lymphedema (complications)</term><term>Lymphedema (congenital)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Pedigree</term><term>Prognosis</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Kératose palmoplantaire ()</term><term>Kératose palmoplantaire (génétique)</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Mâle</term><term>Pedigree</term><term>Pronostic</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Keratoderma, Palmoplantar</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Keratoderma, Palmoplantar</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Keratoderma, Palmoplantar</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Kératose palmoplantaire</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Prognosis</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Kératose palmoplantaire</term><term>Lymphoedème</term><term>Mâle</term><term>Pedigree</term><term>Pronostic</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The palmoplantar keratodermas are a heterogenous group of hereditary disorders of keratinization. They are characterized by epidermal thickening and a yellow waxy appearance of the palms and soles. Genetic studies have linked various forms of palmoplantar keratoderma to markers on chromosomes one, twelve, and seventeen, and several genes have been identified. Primary lymphedema is occasionally present at birth (congenital lymphedema or Milroy's disease), but more commonly develops at puberty (lymphedema praecox). Genetic studies have linked various autosomal dominant forms of primary lymphedema (Milroy's disease and lymphedema distichiasis), to genes on chromosomes five and sixteen respectively. We report a case of palmoplantar keratoderma in a child with congenital lymphedema. To our knowledge, this has not been previously described and may represent a new phenotype for future genetic study.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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