A photographic essay of prolidase deficiency.
Identifieur interne : 002534 ( PubMed/Corpus ); précédent : 002533; suivant : 002535A photographic essay of prolidase deficiency.
Auteurs : Rebecca Dunn ; George Varigos ; Ingrid WinshipSource :
- Clinical dysmorphology [ 1473-5717 ] ; 2011.
English descriptors
- KwdEn :
- MESH :
- diagnosis : Prolidase Deficiency.
- pathology : Skin Diseases.
- Adolescent, Adult, Child, Humans, Male, Phenotype, Young Adult.
Abstract
Prolidase deficiency is a rare inherited connective tissue disorder characterised by intractable skin ulceration, lymphoedema, recurrent infections and mild intellectual impairment. We have documented the progress of an affected individual over the past 40 years, illustrated by high quality photographs to demonstrate the natural history of prolidase deficiency.
DOI: 10.1097/MCD.0b013e3283486cbd
PubMed: 21760498
Links to Exploration step
pubmed:21760498Le document en format XML
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<author><name sortKey="Dunn, Rebecca" sort="Dunn, Rebecca" uniqKey="Dunn R" first="Rebecca" last="Dunn">Rebecca Dunn</name>
<affiliation><nlm:affiliation>Department of Dermatology, Royal Melbourne Hospital, Australia. rebecca_dunn@y7mail.com</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Varigos, George" sort="Varigos, George" uniqKey="Varigos G" first="George" last="Varigos">George Varigos</name>
</author>
<author><name sortKey="Winship, Ingrid" sort="Winship, Ingrid" uniqKey="Winship I" first="Ingrid" last="Winship">Ingrid Winship</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">A photographic essay of prolidase deficiency.</title>
<author><name sortKey="Dunn, Rebecca" sort="Dunn, Rebecca" uniqKey="Dunn R" first="Rebecca" last="Dunn">Rebecca Dunn</name>
<affiliation><nlm:affiliation>Department of Dermatology, Royal Melbourne Hospital, Australia. rebecca_dunn@y7mail.com</nlm:affiliation>
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<author><name sortKey="Varigos, George" sort="Varigos, George" uniqKey="Varigos G" first="George" last="Varigos">George Varigos</name>
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<author><name sortKey="Winship, Ingrid" sort="Winship, Ingrid" uniqKey="Winship I" first="Ingrid" last="Winship">Ingrid Winship</name>
</author>
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<series><title level="j">Clinical dysmorphology</title>
<idno type="eISSN">1473-5717</idno>
<imprint><date when="2011" type="published">2011</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Child</term>
<term>Humans</term>
<term>Male</term>
<term>Phenotype</term>
<term>Prolidase Deficiency (diagnosis)</term>
<term>Skin Diseases (pathology)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Prolidase Deficiency</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Skin Diseases</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Child</term>
<term>Humans</term>
<term>Male</term>
<term>Phenotype</term>
<term>Young Adult</term>
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<front><div type="abstract" xml:lang="en">Prolidase deficiency is a rare inherited connective tissue disorder characterised by intractable skin ulceration, lymphoedema, recurrent infections and mild intellectual impairment. We have documented the progress of an affected individual over the past 40 years, illustrated by high quality photographs to demonstrate the natural history of prolidase deficiency.</div>
</front>
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<DateCreated><Year>2011</Year>
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<Day>08</Day>
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<Day>17</Day>
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<DateRevised><Year>2011</Year>
<Month>09</Month>
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<JournalIssue CitedMedium="Internet"><Volume>20</Volume>
<Issue>4</Issue>
<PubDate><Year>2011</Year>
<Month>Oct</Month>
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<Title>Clinical dysmorphology</Title>
<ISOAbbreviation>Clin. Dysmorphol.</ISOAbbreviation>
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<ArticleTitle>A photographic essay of prolidase deficiency.</ArticleTitle>
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<Abstract><AbstractText>Prolidase deficiency is a rare inherited connective tissue disorder characterised by intractable skin ulceration, lymphoedema, recurrent infections and mild intellectual impairment. We have documented the progress of an affected individual over the past 40 years, illustrated by high quality photographs to demonstrate the natural history of prolidase deficiency.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Dunn</LastName>
<ForeName>Rebecca</ForeName>
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<AffiliationInfo><Affiliation>Department of Dermatology, Royal Melbourne Hospital, Australia. rebecca_dunn@y7mail.com</Affiliation>
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<Author ValidYN="Y"><LastName>Varigos</LastName>
<ForeName>George</ForeName>
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<Author ValidYN="Y"><LastName>Winship</LastName>
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<MeshHeading><DescriptorName UI="D012871" MajorTopicYN="N">Skin Diseases</DescriptorName>
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<MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName>
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