LymphedemaV1, PascalFrancis, Corpus, bibRecord, 000048

Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis

Identifieur interne : 000048 ( PascalFrancis/Corpus ); précédent : 000047; suivant : 000049

Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis

Auteurs : Denisa Kacerovska ; Katrin Kerl ; Michal Michal ; Hana Filipova ; Radek Vrtel ; Tomas Vanecek ; Hana Zelenakova ; Jaroslav Kraus ; Roman Kodet ; Dmitry V. Kazakov

Source :

Journal of the American Academy of Dermatology [ 0190-9622 ] ; 2012.

RBID : Pascal:13-0031362

Descripteurs français

Pascal (Inist)
- Angiofibrome, Phacomatose de Bourneville, Lymphoedème, Localisé, Pathogénie, Dermatologie.

English descriptors

KwdEn :
- Angiofibroma, Bourneville syndrome, Dermatology, Localized, Lymphedema, Pathogenesis.

Abstract

Background: Giant angiofibromas in patients with tuberous sclerosis complex (TSC) are rare. Objective: We sought to report two patients who had TSC with unusually large and disfiguring facial angiofibromas and to identify underlying histopathologic changes that may possibly explain the clinical features. Methods: We performed a clinicopathologic, immunohistochemical, and molecular biologic study using 42 lesional specimens and peripheral blood from one of the two patients. The immunohistochemical investigations were mainly focused on the vascular moiety of the lesions. TSC1 and TSC2 alterations were studied using multiplex ligation-dependent probe amplification for large deletion/duplication mutations, whereas screening for small mutations was performed using polymerase chain reaction amplification of individual coding exons and exon-intron junctions of both genes followed by an analysis on denaturation gradient gel electrophoresis. Results: Histopathologic examination revealed, in addition to findings typical of angiofibroma, several unusual features including multinucleated giant cells containing multiple intracytoplasmic vacuoles, Touton-like cells, emperipolesis, pagetoid dyskeratosis, vacuolar alteration at the dermoepidermal junction, Civatte bodies, and melanophages in the subjacent dermis. Numerous dilated lymphatic vessels were detected indicating localized lymphostasis, probably caused by secondary lymphedema. The lymphatic nature of the vessels was confirmed by immunohistochemical study. Genetic testing for TSC1 and TSC2 gene mutations revealed a substitution on position c.2251C>T resulting in a nonsense mutation R751X in fragment 20.2. Limitations: Histopathologic specimens and peripheral blood were available from only one patient. Conclusion: Localized lymphedema may contribute to the formation of large disfiguring angiofibromas in patients with TSC.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0190-9622`
A02	`01`			`@0 JAADDB`
A03		`1`		`@0 J. Am. Acad. Dermatol.`
A05				`@2 67`
A06				`@2 6`
A08	`01`	`1`	`ENG`	`@1 Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis`
A11	`01`	`1`		`@1 KACEROVSKA (Denisa)`
A11	`02`	`1`		`@1 KERL (Katrin)`
A11	`03`	`1`		`@1 MICHAL (Michal)`
A11	`04`	`1`		`@1 FILIPOVA (Hana)`
A11	`05`	`1`		`@1 VRTEL (Radek)`
A11	`06`	`1`		`@1 VANECEK (Tomas)`
A11	`07`	`1`		`@1 ZELENAKOVA (Hana)`
A11	`08`	`1`		`@1 KRAUS (Jaroslav)`
A11	`09`	`1`		`@1 KODET (Roman)`
A11	`10`	`1`		`@1 KAZAKOV (Dmitry V.)`
A14	`01`			`@1 Sikl's Department of Pathology, Charles University in Prague, Faculty of Medicine @2 Pilsen @3 CZE @Z 1 aut. @Z 3 aut. @Z 6 aut. @Z 10 aut.`
A14	`02`			`@1 Bioptical Laboratory @2 Pilsen @3 CZE @Z 1 aut. @Z 3 aut. @Z 6 aut. @Z 10 aut.`
A14	`03`			`@1 Department of Dermatology, University Hospital @2 Zurich @3 CZE @Z 2 aut.`
A14	`04`			`@1 Department of Clinical Genetics and Fetal Medicine, University Hospital @2 Olomouc @3 CZE @Z 4 aut. @Z 5 aut.`
A14	`05`			`@1 Diagnostic Institution of Social Care @2 Tloskov @3 CZE @Z 7 aut.`
A14	`06`			`@1 Department of Otorhinolaryngology, Hospital Benesov @3 CZE @Z 8 aut.`
A14	`07`			`@1 Institution of Pathology and Molecular Medicine, Second Medical Faculty and Teacher's Hospital @2 Prague @3 CZE @Z 9 aut.`
A20				`@1 1319-1326`
A21				`@1 2012`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 18387 @5 354000505118400280`
A44				`@0 0000 @1 © 2013 INIST-CNRS. All rights reserved.`
A45				`@0 48 ref.`
A47	`01`	`1`		`@0 13-0031362`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Journal of the American Academy of Dermatology`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Background: Giant angiofibromas in patients with tuberous sclerosis complex (TSC) are rare. Objective: We sought to report two patients who had TSC with unusually large and disfiguring facial angiofibromas and to identify underlying histopathologic changes that may possibly explain the clinical features. Methods: We performed a clinicopathologic, immunohistochemical, and molecular biologic study using 42 lesional specimens and peripheral blood from one of the two patients. The immunohistochemical investigations were mainly focused on the vascular moiety of the lesions. TSC1 and TSC2 alterations were studied using multiplex ligation-dependent probe amplification for large deletion/duplication mutations, whereas screening for small mutations was performed using polymerase chain reaction amplification of individual coding exons and exon-intron junctions of both genes followed by an analysis on denaturation gradient gel electrophoresis. Results: Histopathologic examination revealed, in addition to findings typical of angiofibroma, several unusual features including multinucleated giant cells containing multiple intracytoplasmic vacuoles, Touton-like cells, emperipolesis, pagetoid dyskeratosis, vacuolar alteration at the dermoepidermal junction, Civatte bodies, and melanophages in the subjacent dermis. Numerous dilated lymphatic vessels were detected indicating localized lymphostasis, probably caused by secondary lymphedema. The lymphatic nature of the vessels was confirmed by immunohistochemical study. Genetic testing for TSC1 and TSC2 gene mutations revealed a substitution on position c.2251C>T resulting in a nonsense mutation R751X in fragment 20.2. Limitations: Histopathologic specimens and peripheral blood were available from only one patient. Conclusion: Localized lymphedema may contribute to the formation of large disfiguring angiofibromas in patients with TSC.
C02	`01`	`X`		`@0 002B08`
C02	`02`	`X`		`@0 002B17E`
C02	`03`	`X`		`@0 002B12B04`
C03	`01`	`X`	`FRE`	`@0 Angiofibrome @5 01`
C03	`01`	`X`	`ENG`	`@0 Angiofibroma @5 01`
C03	`01`	`X`	`SPA`	`@0 Angiofibroma @5 01`
C03	`02`	`X`	`FRE`	`@0 Phacomatose de Bourneville @5 02`
C03	`02`	`X`	`ENG`	`@0 Bourneville syndrome @5 02`
C03	`02`	`X`	`SPA`	`@0 Facomatosis Bourneville @5 02`
C03	`03`	`X`	`FRE`	`@0 Lymphoedème @5 03`
C03	`03`	`X`	`ENG`	`@0 Lymphedema @5 03`
C03	`03`	`X`	`SPA`	`@0 Linfedema @5 03`
C03	`04`	`X`	`FRE`	`@0 Localisé @5 07`
C03	`04`	`X`	`ENG`	`@0 Localized @5 07`
C03	`04`	`X`	`SPA`	`@0 Localizado @5 07`
C03	`05`	`X`	`FRE`	`@0 Pathogénie @5 08`
C03	`05`	`X`	`ENG`	`@0 Pathogenesis @5 08`
C03	`05`	`X`	`SPA`	`@0 Patogenia @5 08`
C03	`06`	`X`	`FRE`	`@0 Dermatologie @5 09`
C03	`06`	`X`	`ENG`	`@0 Dermatology @5 09`
C03	`06`	`X`	`SPA`	`@0 Dermatología @5 09`
C07	`01`	`X`	`FRE`	`@0 Tumeur @5 37`
C07	`01`	`X`	`ENG`	`@0 Tumor @5 37`
C07	`01`	`X`	`SPA`	`@0 Tumor @5 37`
C07	`02`	`X`	`FRE`	`@0 Maladie héréditaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Genetic disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 38`
C07	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 39`
C07	`03`	`X`	`ENG`	`@0 Nervous system diseases @5 39`
C07	`03`	`X`	`SPA`	`@0 Sistema nervioso patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie de l'appareil circulatoire @5 40`
C07	`04`	`X`	`ENG`	`@0 Cardiovascular disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Aparato circulatorio patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Pathologie des vaisseaux lymphatiques @5 41`
C07	`05`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 41`
C07	`05`	`X`	`SPA`	`@0 Linfático patología @5 41`
N21				`@1 021`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 13-0031362 INIST
ET :	Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis
AU :	KACEROVSKA (Denisa); KERL (Katrin); MICHAL (Michal); FILIPOVA (Hana); VRTEL (Radek); VANECEK (Tomas); ZELENAKOVA (Hana); KRAUS (Jaroslav); KODET (Roman); KAZAKOV (Dmitry V.)
AF :	Sikl's Department of Pathology, Charles University in Prague, Faculty of Medicine/Pilsen/Tchèque, République (1 aut., 3 aut., 6 aut., 10 aut.); Bioptical Laboratory/Pilsen/Tchèque, République (1 aut., 3 aut., 6 aut., 10 aut.); Department of Dermatology, University Hospital/Zurich/Tchèque, République (2 aut.); Department of Clinical Genetics and Fetal Medicine, University Hospital/Olomouc/Tchèque, République (4 aut., 5 aut.); Diagnostic Institution of Social Care/Tloskov/Tchèque, République (7 aut.); Department of Otorhinolaryngology, Hospital Benesov/Tchèque, République (8 aut.); Institution of Pathology and Molecular Medicine, Second Medical Faculty and Teacher's Hospital/Prague/Tchèque, République (9 aut.)
DT :	Publication en série; Niveau analytique
SO :	Journal of the American Academy of Dermatology; ISSN 0190-9622; Coden JAADDB; Etats-Unis; Da. 2012; Vol. 67; No. 6; Pp. 1319-1326; Bibl. 48 ref.
LA :	Anglais
EA :	Background: Giant angiofibromas in patients with tuberous sclerosis complex (TSC) are rare. Objective: We sought to report two patients who had TSC with unusually large and disfiguring facial angiofibromas and to identify underlying histopathologic changes that may possibly explain the clinical features. Methods: We performed a clinicopathologic, immunohistochemical, and molecular biologic study using 42 lesional specimens and peripheral blood from one of the two patients. The immunohistochemical investigations were mainly focused on the vascular moiety of the lesions. TSC1 and TSC2 alterations were studied using multiplex ligation-dependent probe amplification for large deletion/duplication mutations, whereas screening for small mutations was performed using polymerase chain reaction amplification of individual coding exons and exon-intron junctions of both genes followed by an analysis on denaturation gradient gel electrophoresis. Results: Histopathologic examination revealed, in addition to findings typical of angiofibroma, several unusual features including multinucleated giant cells containing multiple intracytoplasmic vacuoles, Touton-like cells, emperipolesis, pagetoid dyskeratosis, vacuolar alteration at the dermoepidermal junction, Civatte bodies, and melanophages in the subjacent dermis. Numerous dilated lymphatic vessels were detected indicating localized lymphostasis, probably caused by secondary lymphedema. The lymphatic nature of the vessels was confirmed by immunohistochemical study. Genetic testing for TSC1 and TSC2 gene mutations revealed a substitution on position c.2251C>T resulting in a nonsense mutation R751X in fragment 20.2. Limitations: Histopathologic specimens and peripheral blood were available from only one patient. Conclusion: Localized lymphedema may contribute to the formation of large disfiguring angiofibromas in patients with TSC.
CC :	002B08; 002B17E; 002B12B04
FD :	Angiofibrome; Phacomatose de Bourneville; Lymphoedème; Localisé; Pathogénie; Dermatologie
FG :	Tumeur; Maladie héréditaire; Pathologie du système nerveux; Pathologie de l'appareil circulatoire; Pathologie des vaisseaux lymphatiques
ED :	Angiofibroma; Bourneville syndrome; Lymphedema; Localized; Pathogenesis; Dermatology
EG :	Tumor; Genetic disease; Nervous system diseases; Cardiovascular disease; Lymphatic vessel disease
SD :	Angiofibroma; Facomatosis Bourneville; Linfedema; Localizado; Patogenia; Dermatología
LO :	INIST-18387.354000505118400280
ID :	13-0031362

Links to Exploration step

Pascal:13-0031362

Le document en format XML

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<author><name sortKey="Kodet, Roman" sort="Kodet, Roman" uniqKey="Kodet R" first="Roman" last="Kodet">Roman Kodet</name>
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<author><name sortKey="Kazakov, Dmitry V" sort="Kazakov, Dmitry V" uniqKey="Kazakov D" first="Dmitry V." last="Kazakov">Dmitry V. Kazakov</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis</title>
<author><name sortKey="Kacerovska, Denisa" sort="Kacerovska, Denisa" uniqKey="Kacerovska D" first="Denisa" last="Kacerovska">Denisa Kacerovska</name>
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<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Bioptical Laboratory</s1>
<s2>Pilsen</s2>
<s3>CZE</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
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<author><name sortKey="Kerl, Katrin" sort="Kerl, Katrin" uniqKey="Kerl K" first="Katrin" last="Kerl">Katrin Kerl</name>
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<author><name sortKey="Michal, Michal" sort="Michal, Michal" uniqKey="Michal M" first="Michal" last="Michal">Michal Michal</name>
<affiliation><inist:fA14 i1="01"><s1>Sikl's Department of Pathology, Charles University in Prague, Faculty of Medicine</s1>
<s2>Pilsen</s2>
<s3>CZE</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Bioptical Laboratory</s1>
<s2>Pilsen</s2>
<s3>CZE</s3>
<sZ>1 aut.</sZ>
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<author><name sortKey="Filipova, Hana" sort="Filipova, Hana" uniqKey="Filipova H" first="Hana" last="Filipova">Hana Filipova</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Clinical Genetics and Fetal Medicine, University Hospital</s1>
<s2>Olomouc</s2>
<s3>CZE</s3>
<sZ>4 aut.</sZ>
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<author><name sortKey="Vrtel, Radek" sort="Vrtel, Radek" uniqKey="Vrtel R" first="Radek" last="Vrtel">Radek Vrtel</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Clinical Genetics and Fetal Medicine, University Hospital</s1>
<s2>Olomouc</s2>
<s3>CZE</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
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</author>
<author><name sortKey="Vanecek, Tomas" sort="Vanecek, Tomas" uniqKey="Vanecek T" first="Tomas" last="Vanecek">Tomas Vanecek</name>
<affiliation><inist:fA14 i1="01"><s1>Sikl's Department of Pathology, Charles University in Prague, Faculty of Medicine</s1>
<s2>Pilsen</s2>
<s3>CZE</s3>
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</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Bioptical Laboratory</s1>
<s2>Pilsen</s2>
<s3>CZE</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Zelenakova, Hana" sort="Zelenakova, Hana" uniqKey="Zelenakova H" first="Hana" last="Zelenakova">Hana Zelenakova</name>
<affiliation><inist:fA14 i1="05"><s1>Diagnostic Institution of Social Care</s1>
<s2>Tloskov</s2>
<s3>CZE</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kraus, Jaroslav" sort="Kraus, Jaroslav" uniqKey="Kraus J" first="Jaroslav" last="Kraus">Jaroslav Kraus</name>
<affiliation><inist:fA14 i1="06"><s1>Department of Otorhinolaryngology, Hospital Benesov</s1>
<s3>CZE</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kodet, Roman" sort="Kodet, Roman" uniqKey="Kodet R" first="Roman" last="Kodet">Roman Kodet</name>
<affiliation><inist:fA14 i1="07"><s1>Institution of Pathology and Molecular Medicine, Second Medical Faculty and Teacher's Hospital</s1>
<s2>Prague</s2>
<s3>CZE</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kazakov, Dmitry V" sort="Kazakov, Dmitry V" uniqKey="Kazakov D" first="Dmitry V." last="Kazakov">Dmitry V. Kazakov</name>
<affiliation><inist:fA14 i1="01"><s1>Sikl's Department of Pathology, Charles University in Prague, Faculty of Medicine</s1>
<s2>Pilsen</s2>
<s3>CZE</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Bioptical Laboratory</s1>
<s2>Pilsen</s2>
<s3>CZE</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Journal of the American Academy of Dermatology</title>
<title level="j" type="abbreviated">J. Am. Acad. Dermatol.</title>
<idno type="ISSN">0190-9622</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Journal of the American Academy of Dermatology</title>
<title level="j" type="abbreviated">J. Am. Acad. Dermatol.</title>
<idno type="ISSN">0190-9622</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Angiofibroma</term>
<term>Bourneville syndrome</term>
<term>Dermatology</term>
<term>Localized</term>
<term>Lymphedema</term>
<term>Pathogenesis</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Angiofibrome</term>
<term>Phacomatose de Bourneville</term>
<term>Lymphoedème</term>
<term>Localisé</term>
<term>Pathogénie</term>
<term>Dermatologie</term>
</keywords>
</textClass>
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<front><div type="abstract" xml:lang="en">Background: Giant angiofibromas in patients with tuberous sclerosis complex (TSC) are rare. Objective: We sought to report two patients who had TSC with unusually large and disfiguring facial angiofibromas and to identify underlying histopathologic changes that may possibly explain the clinical features. Methods: We performed a clinicopathologic, immunohistochemical, and molecular biologic study using 42 lesional specimens and peripheral blood from one of the two patients. The immunohistochemical investigations were mainly focused on the vascular moiety of the lesions. TSC1 and TSC2 alterations were studied using multiplex ligation-dependent probe amplification for large deletion/duplication mutations, whereas screening for small mutations was performed using polymerase chain reaction amplification of individual coding exons and exon-intron junctions of both genes followed by an analysis on denaturation gradient gel electrophoresis. Results: Histopathologic examination revealed, in addition to findings typical of angiofibroma, several unusual features including multinucleated giant cells containing multiple intracytoplasmic vacuoles, Touton-like cells, emperipolesis, pagetoid dyskeratosis, vacuolar alteration at the dermoepidermal junction, Civatte bodies, and melanophages in the subjacent dermis. Numerous dilated lymphatic vessels were detected indicating localized lymphostasis, probably caused by secondary lymphedema. The lymphatic nature of the vessels was confirmed by immunohistochemical study. Genetic testing for TSC1 and TSC2 gene mutations revealed a substitution on position c.2251C>T resulting in a nonsense mutation R751X in fragment 20.2. Limitations: Histopathologic specimens and peripheral blood were available from only one patient. Conclusion: Localized lymphedema may contribute to the formation of large disfiguring angiofibromas in patients with TSC.</div>
</front>
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</fA05>
<fA06><s2>6</s2>
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<fA08 i1="01" i2="1" l="ENG"><s1>Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis</s1>
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<fA11 i1="01" i2="1"><s1>KACEROVSKA (Denisa)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>KERL (Katrin)</s1>
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<fA11 i1="03" i2="1"><s1>MICHAL (Michal)</s1>
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<fA11 i1="04" i2="1"><s1>FILIPOVA (Hana)</s1>
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<fA11 i1="05" i2="1"><s1>VRTEL (Radek)</s1>
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<fA11 i1="06" i2="1"><s1>VANECEK (Tomas)</s1>
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<fA11 i1="07" i2="1"><s1>ZELENAKOVA (Hana)</s1>
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<fA11 i1="08" i2="1"><s1>KRAUS (Jaroslav)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>KODET (Roman)</s1>
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<fA11 i1="10" i2="1"><s1>KAZAKOV (Dmitry V.)</s1>
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<fA14 i1="01"><s1>Sikl's Department of Pathology, Charles University in Prague, Faculty of Medicine</s1>
<s2>Pilsen</s2>
<s3>CZE</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
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<fA14 i1="02"><s1>Bioptical Laboratory</s1>
<s2>Pilsen</s2>
<s3>CZE</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Dermatology, University Hospital</s1>
<s2>Zurich</s2>
<s3>CZE</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Clinical Genetics and Fetal Medicine, University Hospital</s1>
<s2>Olomouc</s2>
<s3>CZE</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Diagnostic Institution of Social Care</s1>
<s2>Tloskov</s2>
<s3>CZE</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Otorhinolaryngology, Hospital Benesov</s1>
<s3>CZE</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Institution of Pathology and Molecular Medicine, Second Medical Faculty and Teacher's Hospital</s1>
<s2>Prague</s2>
<s3>CZE</s3>
<sZ>9 aut.</sZ>
</fA14>
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<fA21><s1>2012</s1>
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<fC01 i1="01" l="ENG"><s0>Background: Giant angiofibromas in patients with tuberous sclerosis complex (TSC) are rare. Objective: We sought to report two patients who had TSC with unusually large and disfiguring facial angiofibromas and to identify underlying histopathologic changes that may possibly explain the clinical features. Methods: We performed a clinicopathologic, immunohistochemical, and molecular biologic study using 42 lesional specimens and peripheral blood from one of the two patients. The immunohistochemical investigations were mainly focused on the vascular moiety of the lesions. TSC1 and TSC2 alterations were studied using multiplex ligation-dependent probe amplification for large deletion/duplication mutations, whereas screening for small mutations was performed using polymerase chain reaction amplification of individual coding exons and exon-intron junctions of both genes followed by an analysis on denaturation gradient gel electrophoresis. Results: Histopathologic examination revealed, in addition to findings typical of angiofibroma, several unusual features including multinucleated giant cells containing multiple intracytoplasmic vacuoles, Touton-like cells, emperipolesis, pagetoid dyskeratosis, vacuolar alteration at the dermoepidermal junction, Civatte bodies, and melanophages in the subjacent dermis. Numerous dilated lymphatic vessels were detected indicating localized lymphostasis, probably caused by secondary lymphedema. The lymphatic nature of the vessels was confirmed by immunohistochemical study. Genetic testing for TSC1 and TSC2 gene mutations revealed a substitution on position c.2251C>T resulting in a nonsense mutation R751X in fragment 20.2. Limitations: Histopathologic specimens and peripheral blood were available from only one patient. Conclusion: Localized lymphedema may contribute to the formation of large disfiguring angiofibromas in patients with TSC.</s0>
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<s5>03</s5>
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<fC03 i1="03" i2="X" l="SPA"><s0>Linfedema</s0>
<s5>03</s5>
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<s5>07</s5>
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<s5>07</s5>
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<s5>41</s5>
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<server><NO>PASCAL 13-0031362 INIST</NO>
<ET>Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis</ET>
<AU>KACEROVSKA (Denisa); KERL (Katrin); MICHAL (Michal); FILIPOVA (Hana); VRTEL (Radek); VANECEK (Tomas); ZELENAKOVA (Hana); KRAUS (Jaroslav); KODET (Roman); KAZAKOV (Dmitry V.)</AU>
<AF>Sikl's Department of Pathology, Charles University in Prague, Faculty of Medicine/Pilsen/Tchèque, République (1 aut., 3 aut., 6 aut., 10 aut.); Bioptical Laboratory/Pilsen/Tchèque, République (1 aut., 3 aut., 6 aut., 10 aut.); Department of Dermatology, University Hospital/Zurich/Tchèque, République (2 aut.); Department of Clinical Genetics and Fetal Medicine, University Hospital/Olomouc/Tchèque, République (4 aut., 5 aut.); Diagnostic Institution of Social Care/Tloskov/Tchèque, République (7 aut.); Department of Otorhinolaryngology, Hospital Benesov/Tchèque, République (8 aut.); Institution of Pathology and Molecular Medicine, Second Medical Faculty and Teacher's Hospital/Prague/Tchèque, République (9 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Journal of the American Academy of Dermatology; ISSN 0190-9622; Coden JAADDB; Etats-Unis; Da. 2012; Vol. 67; No. 6; Pp. 1319-1326; Bibl. 48 ref.</SO>
<LA>Anglais</LA>
<EA>Background: Giant angiofibromas in patients with tuberous sclerosis complex (TSC) are rare. Objective: We sought to report two patients who had TSC with unusually large and disfiguring facial angiofibromas and to identify underlying histopathologic changes that may possibly explain the clinical features. Methods: We performed a clinicopathologic, immunohistochemical, and molecular biologic study using 42 lesional specimens and peripheral blood from one of the two patients. The immunohistochemical investigations were mainly focused on the vascular moiety of the lesions. TSC1 and TSC2 alterations were studied using multiplex ligation-dependent probe amplification for large deletion/duplication mutations, whereas screening for small mutations was performed using polymerase chain reaction amplification of individual coding exons and exon-intron junctions of both genes followed by an analysis on denaturation gradient gel electrophoresis. Results: Histopathologic examination revealed, in addition to findings typical of angiofibroma, several unusual features including multinucleated giant cells containing multiple intracytoplasmic vacuoles, Touton-like cells, emperipolesis, pagetoid dyskeratosis, vacuolar alteration at the dermoepidermal junction, Civatte bodies, and melanophages in the subjacent dermis. Numerous dilated lymphatic vessels were detected indicating localized lymphostasis, probably caused by secondary lymphedema. The lymphatic nature of the vessels was confirmed by immunohistochemical study. Genetic testing for TSC1 and TSC2 gene mutations revealed a substitution on position c.2251C>T resulting in a nonsense mutation R751X in fragment 20.2. Limitations: Histopathologic specimens and peripheral blood were available from only one patient. Conclusion: Localized lymphedema may contribute to the formation of large disfiguring angiofibromas in patients with TSC.</EA>
<CC>002B08; 002B17E; 002B12B04</CC>
<FD>Angiofibrome; Phacomatose de Bourneville; Lymphoedème; Localisé; Pathogénie; Dermatologie</FD>
<FG>Tumeur; Maladie héréditaire; Pathologie du système nerveux; Pathologie de l'appareil circulatoire; Pathologie des vaisseaux lymphatiques</FG>
<ED>Angiofibroma; Bourneville syndrome; Lymphedema; Localized; Pathogenesis; Dermatology</ED>
<EG>Tumor; Genetic disease; Nervous system diseases; Cardiovascular disease; Lymphatic vessel disease</EG>
<SD>Angiofibroma; Facomatosis Bourneville; Linfedema; Localizado; Patogenia; Dermatología</SD>
<LO>INIST-18387.354000505118400280</LO>
<ID>13-0031362</ID>
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Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis

Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis

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