LymphedemaV1, PascalFrancis, Corpus, bibRecord, 000382

Congenital Lymphedema-lymphangiectasia Associated With Scrotal Angiokeratoma (Fordyce Type) and Hearing Impairment

Identifieur interne : 000382 ( PascalFrancis/Corpus ); précédent : 000381; suivant : 000383

Congenital Lymphedema-lymphangiectasia Associated With Scrotal Angiokeratoma (Fordyce Type) and Hearing Impairment

Auteurs : Piero Pavone ; Carmelo Lucenti ; Filippo Fraggetta ; Giuseppe Micali ; Gemma Incorpora ; Martino Ruggieri

Source :

Journal of clinical gastroenterology [ 0192-0790 ] ; 2008.

RBID : Pascal:08-0353516

Descripteurs français

Pascal (Inist)
- Lymphangiectasie, Angiokératome, Trouble de l'audition, Congénital, Lymphoedème, Scrotum, Surdité, Gastroentérologie.

English descriptors

KwdEn :
- Angiokeratoma, Auditory disorder, Congenital, Gastroenterology, Hearing loss, Lymphangiectasis, Lymphedema, Scrotum.

Abstract

Congenital lymphangiectasia-lymphedema is a rare disorder that presents with edema of the lower half of the body, the face, hands, and scrotum, or with protein-losing enteropathy owing to structural anomalies in the endothelium of the lymphatic system. We describe a biopsy-proven case of severe lymphangiectasia-lymphedema in a 16-year-old boy who was born to consanguineous parents and who, in addition, had mild (20 to 40 dB), early onset, sensorineural deafness and skin abnormalities, consisting of angiokeratomas of the face, hands, and feet, and also a large, localized angiokeratoma of the scrotum and the penis (Fordyce type). Both of the proband's parents had profound ( > 80 dB), congenital, mixed conductive/ sensorineural, nonsyndromic deafness to low-mid frequencies. To the best of our knowledge, this constellation of lymphatic, skin, hearing, and systemic abnormalities seen in the proband has not been previously reported.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A05				`@2 42`
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A08	`01`	`1`	`ENG`	`@1 Congenital Lymphedema-lymphangiectasia Associated With Scrotal Angiokeratoma (Fordyce Type) and Hearing Impairment`
A11	`01`	`1`		`@1 PAVONE (Piero)`
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A11	`06`	`1`		`@1 RUGGIERI (Martino)`
A14	`01`			`@1 Department of Paediatrics, University of Catania @3 ITA @Z 1 aut. @Z 5 aut. @Z 6 aut.`
A14	`02`			`@1 Department of Paediatrics, AUSL 3 @2 Caltagirone @3 ITA @Z 1 aut. @Z 2 aut.`
A14	`03`			`@1 Pathology Unit, AUSL 3, Cannizzaro Hospital @3 ITA @Z 3 aut.`
A14	`04`			`@1 Department of Dermatology, University of Catania @3 ITA @Z 4 aut.`
A14	`05`			`@1 Institute of Neurological Science, National Research Council @2 Catania @3 ITA @Z 6 aut.`
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A44				`@0 0000 @1 © 2008 INIST-CNRS. All rights reserved.`
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A64	`01`	`1`		`@0 Journal of clinical gastroenterology`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Congenital lymphangiectasia-lymphedema is a rare disorder that presents with edema of the lower half of the body, the face, hands, and scrotum, or with protein-losing enteropathy owing to structural anomalies in the endothelium of the lymphatic system. We describe a biopsy-proven case of severe lymphangiectasia-lymphedema in a 16-year-old boy who was born to consanguineous parents and who, in addition, had mild (20 to 40 dB), early onset, sensorineural deafness and skin abnormalities, consisting of angiokeratomas of the face, hands, and feet, and also a large, localized angiokeratoma of the scrotum and the penis (Fordyce type). Both of the proband's parents had profound ( > 80 dB), congenital, mixed conductive/ sensorineural, nonsyndromic deafness to low-mid frequencies. To the best of our knowledge, this constellation of lymphatic, skin, hearing, and systemic abnormalities seen in the proband has not been previously reported.
C02	`01`	`X`		`@0 002B13`
C02	`02`	`X`		`@0 002B12B04`
C02	`03`	`X`		`@0 002B08I`
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C03	`01`	`X`	`ENG`	`@0 Lymphangiectasis @5 01`
C03	`01`	`X`	`SPA`	`@0 Linfangiectasia @5 01`
C03	`02`	`X`	`FRE`	`@0 Angiokératome @5 02`
C03	`02`	`X`	`ENG`	`@0 Angiokeratoma @5 02`
C03	`02`	`X`	`SPA`	`@0 Angioqueratoma @5 02`
C03	`03`	`X`	`FRE`	`@0 Trouble de l'audition @5 03`
C03	`03`	`X`	`ENG`	`@0 Auditory disorder @5 03`
C03	`03`	`X`	`SPA`	`@0 Trastorno auditivo @5 03`
C03	`04`	`X`	`FRE`	`@0 Congénital @5 07`
C03	`04`	`X`	`ENG`	`@0 Congenital @5 07`
C03	`04`	`X`	`SPA`	`@0 Congénito @5 07`
C03	`05`	`X`	`FRE`	`@0 Lymphoedème @5 08`
C03	`05`	`X`	`ENG`	`@0 Lymphedema @5 08`
C03	`05`	`X`	`SPA`	`@0 Linfedema @5 08`
C03	`06`	`X`	`FRE`	`@0 Scrotum @5 09`
C03	`06`	`X`	`ENG`	`@0 Scrotum @5 09`
C03	`06`	`X`	`SPA`	`@0 Escroto @5 09`
C03	`07`	`X`	`FRE`	`@0 Surdité @5 13`
C03	`07`	`X`	`ENG`	`@0 Hearing loss @5 13`
C03	`07`	`X`	`SPA`	`@0 Sordera @5 13`
C03	`08`	`X`	`FRE`	`@0 Gastroentérologie @5 14`
C03	`08`	`X`	`ENG`	`@0 Gastroenterology @5 14`
C03	`08`	`X`	`SPA`	`@0 Gastroenterología @5 14`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'appareil circulatoire @5 37`
C07	`01`	`X`	`ENG`	`@0 Cardiovascular disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Aparato circulatorio patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Pathologie des vaisseaux lymphatiques @5 38`
C07	`02`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Linfático patología @5 38`
C07	`03`	`X`	`FRE`	`@0 Angiome @5 39`
C07	`03`	`X`	`ENG`	`@0 Angioma @5 39`
C07	`03`	`X`	`SPA`	`@0 Angioma @5 39`
C07	`04`	`X`	`FRE`	`@0 Dyskératose @5 40`
C07	`04`	`X`	`ENG`	`@0 Dyskeratosis @5 40`
C07	`04`	`X`	`SPA`	`@0 Disqueratosis @5 40`
C07	`05`	`X`	`FRE`	`@0 Hyperkératose @5 41`
C07	`05`	`X`	`ENG`	`@0 Hyperkeratosis @5 41`
C07	`05`	`X`	`SPA`	`@0 Hiperqueratosis @5 41`
C07	`06`	`X`	`FRE`	`@0 Pathologie de la peau @5 42`
C07	`06`	`X`	`ENG`	`@0 Skin disease @5 42`
C07	`06`	`X`	`SPA`	`@0 Piel patología @5 42`
C07	`07`	`X`	`FRE`	`@0 Pathologie des vaisseaux sanguins @5 43`
C07	`07`	`X`	`ENG`	`@0 Vascular disease @5 43`
C07	`07`	`X`	`SPA`	`@0 Vaso sanguíneo patología @5 43`
C07	`08`	`X`	`FRE`	`@0 Pathologie ORL @5 44`
C07	`08`	`X`	`ENG`	`@0 ENT disease @5 44`
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N21				`@1 224`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 08-0353516 INIST
ET :	Congenital Lymphedema-lymphangiectasia Associated With Scrotal Angiokeratoma (Fordyce Type) and Hearing Impairment
AU :	PAVONE (Piero); LUCENTI (Carmelo); FRAGGETTA (Filippo); MICALI (Giuseppe); INCORPORA (Gemma); RUGGIERI (Martino)
AF :	Department of Paediatrics, University of Catania/Italie (1 aut., 5 aut., 6 aut.); Department of Paediatrics, AUSL 3/Caltagirone/Italie (1 aut., 2 aut.); Pathology Unit, AUSL 3, Cannizzaro Hospital/Italie (3 aut.); Department of Dermatology, University of Catania/Italie (4 aut.); Institute of Neurological Science, National Research Council/Catania/Italie (6 aut.)
DT :	Publication en série; Etude de cas, cas et faits cliniques; Niveau analytique
SO :	Journal of clinical gastroenterology; ISSN 0192-0790; Coden JCGADC; Etats-Unis; Da. 2008; Vol. 42; No. 6; Pp. 715-719; Bibl. 16 ref.
LA :	Anglais
EA :	Congenital lymphangiectasia-lymphedema is a rare disorder that presents with edema of the lower half of the body, the face, hands, and scrotum, or with protein-losing enteropathy owing to structural anomalies in the endothelium of the lymphatic system. We describe a biopsy-proven case of severe lymphangiectasia-lymphedema in a 16-year-old boy who was born to consanguineous parents and who, in addition, had mild (20 to 40 dB), early onset, sensorineural deafness and skin abnormalities, consisting of angiokeratomas of the face, hands, and feet, and also a large, localized angiokeratoma of the scrotum and the penis (Fordyce type). Both of the proband's parents had profound ( > 80 dB), congenital, mixed conductive/ sensorineural, nonsyndromic deafness to low-mid frequencies. To the best of our knowledge, this constellation of lymphatic, skin, hearing, and systemic abnormalities seen in the proband has not been previously reported.
CC :	002B13; 002B12B04; 002B08I
FD :	Lymphangiectasie; Angiokératome; Trouble de l'audition; Congénital; Lymphoedème; Scrotum; Surdité; Gastroentérologie
FG :	Pathologie de l'appareil circulatoire; Pathologie des vaisseaux lymphatiques; Angiome; Dyskératose; Hyperkératose; Pathologie de la peau; Pathologie des vaisseaux sanguins; Pathologie ORL
ED :	Lymphangiectasis; Angiokeratoma; Auditory disorder; Congenital; Lymphedema; Scrotum; Hearing loss; Gastroenterology
EG :	Cardiovascular disease; Lymphatic vessel disease; Angioma; Dyskeratosis; Hyperkeratosis; Skin disease; Vascular disease; ENT disease
SD :	Linfangiectasia; Angioqueratoma; Trastorno auditivo; Congénito; Linfedema; Escroto; Sordera; Gastroenterología
LO :	INIST-18331.354000196234210120
ID :	08-0353516

Links to Exploration step

Pascal:08-0353516

Le document en format XML

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<front><div type="abstract" xml:lang="en">Congenital lymphangiectasia-lymphedema is a rare disorder that presents with edema of the lower half of the body, the face, hands, and scrotum, or with protein-losing enteropathy owing to structural anomalies in the endothelium of the lymphatic system. We describe a biopsy-proven case of severe lymphangiectasia-lymphedema in a 16-year-old boy who was born to consanguineous parents and who, in addition, had mild (20 to 40 dB), early onset, sensorineural deafness and skin abnormalities, consisting of angiokeratomas of the face, hands, and feet, and also a large, localized angiokeratoma of the scrotum and the penis (Fordyce type). Both of the proband's parents had profound ( > 80 dB), congenital, mixed conductive/ sensorineural, nonsyndromic deafness to low-mid frequencies. To the best of our knowledge, this constellation of lymphatic, skin, hearing, and systemic abnormalities seen in the proband has not been previously reported.</div>
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</fA66>
<fC01 i1="01" l="ENG"><s0>Congenital lymphangiectasia-lymphedema is a rare disorder that presents with edema of the lower half of the body, the face, hands, and scrotum, or with protein-losing enteropathy owing to structural anomalies in the endothelium of the lymphatic system. We describe a biopsy-proven case of severe lymphangiectasia-lymphedema in a 16-year-old boy who was born to consanguineous parents and who, in addition, had mild (20 to 40 dB), early onset, sensorineural deafness and skin abnormalities, consisting of angiokeratomas of the face, hands, and feet, and also a large, localized angiokeratoma of the scrotum and the penis (Fordyce type). Both of the proband's parents had profound ( > 80 dB), congenital, mixed conductive/ sensorineural, nonsyndromic deafness to low-mid frequencies. To the best of our knowledge, this constellation of lymphatic, skin, hearing, and systemic abnormalities seen in the proband has not been previously reported.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B13</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B12B04</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B08I</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Lymphangiectasie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Lymphangiectasis</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Linfangiectasia</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Angiokératome</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Angiokeratoma</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Angioqueratoma</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Trouble de l'audition</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Auditory disorder</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Trastorno auditivo</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Congénital</s0>
<s5>07</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Congenital</s0>
<s5>07</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Congénito</s0>
<s5>07</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Lymphoedème</s0>
<s5>08</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Lymphedema</s0>
<s5>08</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Linfedema</s0>
<s5>08</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Scrotum</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Scrotum</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Escroto</s0>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Surdité</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Hearing loss</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Sordera</s0>
<s5>13</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Gastroentérologie</s0>
<s5>14</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Gastroenterology</s0>
<s5>14</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Gastroenterología</s0>
<s5>14</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'appareil circulatoire</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cardiovascular disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Pathologie des vaisseaux lymphatiques</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Linfático patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Angiome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Angioma</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Angioma</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Dyskératose</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Dyskeratosis</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Disqueratosis</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Hyperkératose</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Hyperkeratosis</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Hiperqueratosis</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Pathologie de la peau</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Skin disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Piel patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Pathologie des vaisseaux sanguins</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Vascular disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Vaso sanguíneo patología</s0>
<s5>43</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Pathologie ORL</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>ENT disease</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>ORL patología</s0>
<s5>44</s5>
</fC07>
<fN21><s1>224</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 08-0353516 INIST</NO>
<ET>Congenital Lymphedema-lymphangiectasia Associated With Scrotal Angiokeratoma (Fordyce Type) and Hearing Impairment</ET>
<AU>PAVONE (Piero); LUCENTI (Carmelo); FRAGGETTA (Filippo); MICALI (Giuseppe); INCORPORA (Gemma); RUGGIERI (Martino)</AU>
<AF>Department of Paediatrics, University of Catania/Italie (1 aut., 5 aut., 6 aut.); Department of Paediatrics, AUSL 3/Caltagirone/Italie (1 aut., 2 aut.); Pathology Unit, AUSL 3, Cannizzaro Hospital/Italie (3 aut.); Department of Dermatology, University of Catania/Italie (4 aut.); Institute of Neurological Science, National Research Council/Catania/Italie (6 aut.)</AF>
<DT>Publication en série; Etude de cas, cas et faits cliniques; Niveau analytique</DT>
<SO>Journal of clinical gastroenterology; ISSN 0192-0790; Coden JCGADC; Etats-Unis; Da. 2008; Vol. 42; No. 6; Pp. 715-719; Bibl. 16 ref.</SO>
<LA>Anglais</LA>
<EA>Congenital lymphangiectasia-lymphedema is a rare disorder that presents with edema of the lower half of the body, the face, hands, and scrotum, or with protein-losing enteropathy owing to structural anomalies in the endothelium of the lymphatic system. We describe a biopsy-proven case of severe lymphangiectasia-lymphedema in a 16-year-old boy who was born to consanguineous parents and who, in addition, had mild (20 to 40 dB), early onset, sensorineural deafness and skin abnormalities, consisting of angiokeratomas of the face, hands, and feet, and also a large, localized angiokeratoma of the scrotum and the penis (Fordyce type). Both of the proband's parents had profound ( > 80 dB), congenital, mixed conductive/ sensorineural, nonsyndromic deafness to low-mid frequencies. To the best of our knowledge, this constellation of lymphatic, skin, hearing, and systemic abnormalities seen in the proband has not been previously reported.</EA>
<CC>002B13; 002B12B04; 002B08I</CC>
<FD>Lymphangiectasie; Angiokératome; Trouble de l'audition; Congénital; Lymphoedème; Scrotum; Surdité; Gastroentérologie</FD>
<FG>Pathologie de l'appareil circulatoire; Pathologie des vaisseaux lymphatiques; Angiome; Dyskératose; Hyperkératose; Pathologie de la peau; Pathologie des vaisseaux sanguins; Pathologie ORL</FG>
<ED>Lymphangiectasis; Angiokeratoma; Auditory disorder; Congenital; Lymphedema; Scrotum; Hearing loss; Gastroenterology</ED>
<EG>Cardiovascular disease; Lymphatic vessel disease; Angioma; Dyskeratosis; Hyperkeratosis; Skin disease; Vascular disease; ENT disease</EG>
<SD>Linfangiectasia; Angioqueratoma; Trastorno auditivo; Congénito; Linfedema; Escroto; Sordera; Gastroenterología</SD>
<LO>INIST-18331.354000196234210120</LO>
<ID>08-0353516</ID>
</server>
</inist>
</record>

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Congenital Lymphedema-lymphangiectasia Associated With Scrotal Angiokeratoma (Fordyce Type) and Hearing Impairment

Congenital Lymphedema-lymphangiectasia Associated With Scrotal Angiokeratoma (Fordyce Type) and Hearing Impairment

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