Fabry's Disease Mimicking an Undifferentiated Connective Tissue Disease.
Identifieur interne : 004950 ( PubMed/Curation ); précédent : 004949; suivant : 004951Fabry's Disease Mimicking an Undifferentiated Connective Tissue Disease.
Auteurs : Q. Usmani [États-Unis] ; J M Camacho ; B. Elfenbein ; A J ReginatoSource :
- Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases [ 1536-7355 ] ; 2000.
Abstract
We describe a patient with Fabry's disease who for many years was seen in other clinics and was thought to have an undifferentiated connective tissue disease or an incomplete form of CREST syndrome. He presented with polyarthralgias; multiple telangiectasia-like lesions in his oral mucosa, hands, and periumbilical area; mild dysphagia; Raynaud's phenomenon; bilateral leg lymphedema; renal insufficiency; and aseptic bone necrosis at both knees. The diagnosis of Fabry's disease was first suspected when ultrastructural studies on his kidney revealed the typical inclusions characteristic of glycosphingolipidosis. Diagnosis of Fabry's disease was later confirmed by finding similar inclusions in skin endothelial cells and demonstrating a low alpha-galactosidase A activity in plasma. Fabry's disease, although rare, must be considered in the differential diagnosis of patients considered to have "atypical undifferentiated connective tissue diseases," even in the absence of classic angiokeratomas.
PubMed: 19078496
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Usmani</name><affiliation wicri:level="2"><nlm:affiliation>Cooper University Medical Center, Robert Wood Johnson Medical School, Camden, New Jersey; Temple University Hospital, Philadelphia, Pennsylvania.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Cooper University Medical Center, Robert Wood Johnson Medical School, Camden, New Jersey; Temple University Hospital, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Camacho, J M" sort="Camacho, J M" uniqKey="Camacho J" first="J M" last="Camacho">J M Camacho</name></author><author><name sortKey="Elfenbein, B" sort="Elfenbein, B" uniqKey="Elfenbein B" first="B" last="Elfenbein">B. Elfenbein</name></author><author><name sortKey="Reginato, A J" sort="Reginato, A J" uniqKey="Reginato A" first="A J" last="Reginato">A J Reginato</name></author></analytic><series><title level="j">Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases</title><idno type="eISSN">1536-7355</idno><imprint><date when="2000" type="published">2000</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a patient with Fabry's disease who for many years was seen in other clinics and was thought to have an undifferentiated connective tissue disease or an incomplete form of CREST syndrome. He presented with polyarthralgias; multiple telangiectasia-like lesions in his oral mucosa, hands, and periumbilical area; mild dysphagia; Raynaud's phenomenon; bilateral leg lymphedema; renal insufficiency; and aseptic bone necrosis at both knees. The diagnosis of Fabry's disease was first suspected when ultrastructural studies on his kidney revealed the typical inclusions characteristic of glycosphingolipidosis. Diagnosis of Fabry's disease was later confirmed by finding similar inclusions in skin endothelial cells and demonstrating a low alpha-galactosidase A activity in plasma. Fabry's disease, although rare, must be considered in the differential diagnosis of patients considered to have "atypical undifferentiated connective tissue diseases," even in the absence of classic angiokeratomas.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">19078496</PMID><DateCreated><Year>2008</Year><Month>12</Month><Day>16</Day></DateCreated><DateCompleted><Year>2012</Year><Month>10</Month><Day>02</Day></DateCompleted><DateRevised><Year>2012</Year><Month>11</Month><Day>09</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1536-7355</ISSN><JournalIssue CitedMedium="Internet"><Volume>6</Volume><Issue>6</Issue><PubDate><Year>2000</Year><Month>Dec</Month></PubDate></JournalIssue><Title>Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases</Title><ISOAbbreviation>J Clin Rheumatol</ISOAbbreviation></Journal><ArticleTitle>Fabry's Disease Mimicking an Undifferentiated Connective Tissue Disease.</ArticleTitle><Pagination><MedlinePgn>333-8</MedlinePgn></Pagination><Abstract><AbstractText>We describe a patient with Fabry's disease who for many years was seen in other clinics and was thought to have an undifferentiated connective tissue disease or an incomplete form of CREST syndrome. He presented with polyarthralgias; multiple telangiectasia-like lesions in his oral mucosa, hands, and periumbilical area; mild dysphagia; Raynaud's phenomenon; bilateral leg lymphedema; renal insufficiency; and aseptic bone necrosis at both knees. The diagnosis of Fabry's disease was first suspected when ultrastructural studies on his kidney revealed the typical inclusions characteristic of glycosphingolipidosis. Diagnosis of Fabry's disease was later confirmed by finding similar inclusions in skin endothelial cells and demonstrating a low alpha-galactosidase A activity in plasma. Fabry's disease, although rare, must be considered in the differential diagnosis of patients considered to have "atypical undifferentiated connective tissue diseases," even in the absence of classic angiokeratomas.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Usmani</LastName><ForeName>Q</ForeName><Initials>Q</Initials><AffiliationInfo><Affiliation>Cooper University Medical Center, Robert Wood Johnson Medical School, Camden, New Jersey; Temple University Hospital, Philadelphia, Pennsylvania.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Camacho</LastName><ForeName>J M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Elfenbein</LastName><ForeName>B</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Reginato</LastName><ForeName>A J</ForeName><Initials>AJ</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>J Clin Rheumatol</MedlineTA><NlmUniqueID>9518034</NlmUniqueID><ISSNLinking>1076-1608</ISSNLinking></MedlineJournalInfo></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>12</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2000</Year><Month>12</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2000</Year><Month>12</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">19078496</ArticleId><ArticleId IdType="pii">00124743-200012000-00007</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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