Cutaneous Manifestations and Massive Genital Involvement in Hennekam Syndrome
Identifieur interne : 007E91 ( Main/Merge ); précédent : 007E90; suivant : 007E92Cutaneous Manifestations and Massive Genital Involvement in Hennekam Syndrome
Auteurs : Maria Letizia Musumeci ; Maria Rita Nasca ; Rocco De Pasquale ; Robert A. Schwartz [États-Unis] ; Giuseppe MicaliSource :
- Pediatric Dermatology [ 0736-8046 ] ; 2006-05.
Descripteurs français
- KwdFr :
- Adolescent, Déficience intellectuelle (anatomopathologie), Humains, Incapacités de développement (anatomopathologie), Lymphangiectasie intestinale (anatomopathologie), Lymphoedème (anatomopathologie), Maladies de l'appareil génital mâle (anatomopathologie), Maladies de la peau (anatomopathologie), Malformations crâniofaciales (anatomopathologie), Mâle, Syndrome.
- MESH :
English descriptors
- KwdEn :
- MESH :
Abstract
Abstract: We describe a 16‐year‐old boy with intestinal lymphangiectasia, lymphedema of the limbs and genitalia, mild mental retardation, and facial anomalies (Hennekam syndrome) and cutaneous lesions. Severe edema in the genital area created a gigantic mass that included the scrotum and penis. Numerous grouped red‐violaceous pseudo‐vesicular lesions and plaques, as well as verrucous brown papules, were present on the penis and scrotum. The prepuce was hypertrophic, with severe phimosis. Histologic analysis revealed dilated lymphatic vessels lined by a discontinuous layer of flat endothelial cells in the papillary dermis and extending down to the reticular dermis. Dilated blood vessels were also present but no cellular abnormalities were identified. A diagnosis of superficial cutaneous lymphatic malformations was made. To the best of our knowledge, this is the first detailed cutaneous histologic investigation in a patient with Hennekam syndrome. We assume that the onset of cutaneous lesions in our patient was likely triggered by a generalized worsening of his lymphedema.
Url:
DOI: 10.1111/j.1525-1470.2006.00225.x
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Schwartz</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">New Jersey</region></placeName><wicri:cityArea>Dermatology Department, New Jersey Medical School, Newark</wicri:cityArea></affiliation></author><author><name sortKey="Micali, Giuseppe" sort="Micali, Giuseppe" uniqKey="Micali G" first="Giuseppe" last="Micali">Giuseppe Micali</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Pediatric Dermatology</title><title level="j" type="alt">PEDIATRIC DERMATOLOGY</title><idno type="ISSN">0736-8046</idno><idno type="eISSN">1525-1470</idno><imprint><biblScope unit="vol">23</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="239">239</biblScope><biblScope unit="page" to="242">242</biblScope><biblScope unit="page-count">4</biblScope><publisher>Blackwell Publishing Inc</publisher><pubPlace>Malden, USA</pubPlace><date type="published" when="2006-05">2006-05</date></imprint><idno type="ISSN">0736-8046</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0736-8046</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Craniofacial Abnormalities (pathology)</term><term>Developmental Disabilities (pathology)</term><term>Genital Diseases, Male (pathology)</term><term>Humans</term><term>Intellectual Disability (pathology)</term><term>Lymphangiectasis, Intestinal (pathology)</term><term>Lymphedema (pathology)</term><term>Male</term><term>Skin Diseases (pathology)</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Déficience intellectuelle (anatomopathologie)</term><term>Humains</term><term>Incapacités de développement (anatomopathologie)</term><term>Lymphangiectasie intestinale (anatomopathologie)</term><term>Lymphoedème (anatomopathologie)</term><term>Maladies de l'appareil génital mâle (anatomopathologie)</term><term>Maladies de la peau (anatomopathologie)</term><term>Malformations crâniofaciales (anatomopathologie)</term><term>Mâle</term><term>Syndrome</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Déficience intellectuelle</term><term>Incapacités de développement</term><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Maladies de l'appareil génital mâle</term><term>Maladies de la peau</term><term>Malformations crâniofaciales</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Craniofacial Abnormalities</term><term>Developmental Disabilities</term><term>Genital Diseases, Male</term><term>Intellectual Disability</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term><term>Skin Diseases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Humans</term><term>Male</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Humains</term><term>Mâle</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">Abstract: We describe a 16‐year‐old boy with intestinal lymphangiectasia, lymphedema of the limbs and genitalia, mild mental retardation, and facial anomalies (Hennekam syndrome) and cutaneous lesions. Severe edema in the genital area created a gigantic mass that included the scrotum and penis. Numerous grouped red‐violaceous pseudo‐vesicular lesions and plaques, as well as verrucous brown papules, were present on the penis and scrotum. The prepuce was hypertrophic, with severe phimosis. Histologic analysis revealed dilated lymphatic vessels lined by a discontinuous layer of flat endothelial cells in the papillary dermis and extending down to the reticular dermis. Dilated blood vessels were also present but no cellular abnormalities were identified. A diagnosis of superficial cutaneous lymphatic malformations was made. To the best of our knowledge, this is the first detailed cutaneous histologic investigation in a patient with Hennekam syndrome. We assume that the onset of cutaneous lesions in our patient was likely triggered by a generalized worsening of his lymphedema.</div></front></TEI><double doi="10.1111/j.1525-1470.2006.00225.x"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Cutaneous Manifestations and Massive Genital Involvement in Hennekam Syndrome</title><author><name sortKey="Musumeci, Maria Letizia" sort="Musumeci, Maria Letizia" uniqKey="Musumeci M" first="Maria Letizia" last="Musumeci">Maria Letizia Musumeci</name></author><author><name sortKey="Nasca, Maria Rita" sort="Nasca, Maria Rita" uniqKey="Nasca M" first="Maria Rita" last="Nasca">Maria Rita Nasca</name></author><author><name sortKey="De Pasquale, Rocco" sort="De Pasquale, Rocco" uniqKey="De Pasquale R" first="Rocco" last="De Pasquale">Rocco De Pasquale</name></author><author><name sortKey="Schwartz, Robert A" sort="Schwartz, Robert A" uniqKey="Schwartz R" first="Robert A." last="Schwartz">Robert A. Schwartz</name></author><author><name sortKey="Micali, Giuseppe" sort="Micali, Giuseppe" uniqKey="Micali G" first="Giuseppe" last="Micali">Giuseppe Micali</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:692E6307E79371BC1E3154D27E2CF7CB8F48F5CD</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1111/j.1525-1470.2006.00225.x</idno><idno type="url">https://api.istex.fr/document/692E6307E79371BC1E3154D27E2CF7CB8F48F5CD/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003111</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">003111</idno><idno type="wicri:Area/Istex/Curation">003111</idno><idno type="wicri:Area/Istex/Checkpoint">001782</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">001782</idno><idno type="wicri:doubleKey">0736-8046:2006:Musumeci M:cutaneous:manifestations:and</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main">Cutaneous Manifestations and Massive Genital Involvement in Hennekam Syndrome</title><author><name sortKey="Musumeci, Maria Letizia" sort="Musumeci, Maria Letizia" uniqKey="Musumeci M" first="Maria Letizia" last="Musumeci">Maria Letizia Musumeci</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Nasca, Maria Rita" sort="Nasca, Maria Rita" uniqKey="Nasca M" first="Maria Rita" last="Nasca">Maria Rita Nasca</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="De Pasquale, Rocco" sort="De Pasquale, Rocco" uniqKey="De Pasquale R" first="Rocco" last="De Pasquale">Rocco De Pasquale</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author><author><name sortKey="Schwartz, Robert A" sort="Schwartz, Robert A" uniqKey="Schwartz R" first="Robert A." last="Schwartz">Robert A. Schwartz</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">New Jersey</region></placeName><wicri:cityArea>Dermatology Department, New Jersey Medical School, Newark</wicri:cityArea></affiliation></author><author><name sortKey="Micali, Giuseppe" sort="Micali, Giuseppe" uniqKey="Micali G" first="Giuseppe" last="Micali">Giuseppe Micali</name><affiliation><wicri:noCountry code="subField"></wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Pediatric Dermatology</title><title level="j" type="alt">PEDIATRIC DERMATOLOGY</title><idno type="ISSN">0736-8046</idno><idno type="eISSN">1525-1470</idno><imprint><biblScope unit="vol">23</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="239">239</biblScope><biblScope unit="page" to="242">242</biblScope><biblScope unit="page-count">4</biblScope><publisher>Blackwell Publishing Inc</publisher><pubPlace>Malden, USA</pubPlace><date type="published" when="2006-05">2006-05</date></imprint><idno type="ISSN">0736-8046</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0736-8046</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Abstract: We describe a 16‐year‐old boy with intestinal lymphangiectasia, lymphedema of the limbs and genitalia, mild mental retardation, and facial anomalies (Hennekam syndrome) and cutaneous lesions. Severe edema in the genital area created a gigantic mass that included the scrotum and penis. Numerous grouped red‐violaceous pseudo‐vesicular lesions and plaques, as well as verrucous brown papules, were present on the penis and scrotum. The prepuce was hypertrophic, with severe phimosis. Histologic analysis revealed dilated lymphatic vessels lined by a discontinuous layer of flat endothelial cells in the papillary dermis and extending down to the reticular dermis. Dilated blood vessels were also present but no cellular abnormalities were identified. A diagnosis of superficial cutaneous lymphatic malformations was made. To the best of our knowledge, this is the first detailed cutaneous histologic investigation in a patient with Hennekam syndrome. We assume that the onset of cutaneous lesions in our patient was likely triggered by a generalized worsening of his lymphedema.</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Cutaneous manifestations and massive genital involvement in Hennekam syndrome.</title><author><name sortKey="Musumeci, Maria Letizia" sort="Musumeci, Maria Letizia" uniqKey="Musumeci M" first="Maria Letizia" last="Musumeci">Maria Letizia Musumeci</name><affiliation wicri:level="1"><nlm:affiliation>Dermatology Clinic, University of Catania, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dermatology Clinic, University of Catania</wicri:regionArea><wicri:noRegion>University of Catania</wicri:noRegion></affiliation></author><author><name sortKey="Nasca, Maria Rita" sort="Nasca, Maria Rita" uniqKey="Nasca M" first="Maria Rita" last="Nasca">Maria Rita Nasca</name></author><author><name sortKey="De Pasquale, Rocco" sort="De Pasquale, Rocco" uniqKey="De Pasquale R" first="Rocco" last="De Pasquale">Rocco De Pasquale</name></author><author><name sortKey="Schwartz, Robert A" sort="Schwartz, Robert A" uniqKey="Schwartz R" first="Robert A" last="Schwartz">Robert A. Schwartz</name></author><author><name sortKey="Micali, Giuseppe" sort="Micali, Giuseppe" uniqKey="Micali G" first="Giuseppe" last="Micali">Giuseppe Micali</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="????"><PubDate><MedlineDate>2006 May-Jun</MedlineDate></PubDate></date><idno type="RBID">pubmed:16780470</idno><idno type="pmid">16780470</idno><idno type="doi">10.1111/j.1525-1470.2006.00225.x</idno><idno type="wicri:Area/PubMed/Corpus">003959</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003959</idno><idno type="wicri:Area/PubMed/Curation">003959</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003959</idno><idno type="wicri:Area/PubMed/Checkpoint">003959</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003959</idno><idno type="wicri:Area/Ncbi/Merge">002302</idno><idno type="wicri:Area/Ncbi/Curation">002302</idno><idno type="wicri:Area/Ncbi/Checkpoint">002302</idno><idno type="wicri:doubleKey">0736-8046::Musumeci M:cutaneous:manifestations:and</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Cutaneous manifestations and massive genital involvement in Hennekam syndrome.</title><author><name sortKey="Musumeci, Maria Letizia" sort="Musumeci, Maria Letizia" uniqKey="Musumeci M" first="Maria Letizia" last="Musumeci">Maria Letizia Musumeci</name><affiliation wicri:level="1"><nlm:affiliation>Dermatology Clinic, University of Catania, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dermatology Clinic, University of Catania</wicri:regionArea><wicri:noRegion>University of Catania</wicri:noRegion></affiliation></author><author><name sortKey="Nasca, Maria Rita" sort="Nasca, Maria Rita" uniqKey="Nasca M" first="Maria Rita" last="Nasca">Maria Rita Nasca</name></author><author><name sortKey="De Pasquale, Rocco" sort="De Pasquale, Rocco" uniqKey="De Pasquale R" first="Rocco" last="De Pasquale">Rocco De Pasquale</name></author><author><name sortKey="Schwartz, Robert A" sort="Schwartz, Robert A" uniqKey="Schwartz R" first="Robert A" last="Schwartz">Robert A. Schwartz</name></author><author><name sortKey="Micali, Giuseppe" sort="Micali, Giuseppe" uniqKey="Micali G" first="Giuseppe" last="Micali">Giuseppe Micali</name></author></analytic><series><title level="j">Pediatric dermatology</title><idno type="ISSN">0736-8046</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Craniofacial Abnormalities (pathology)</term><term>Developmental Disabilities (pathology)</term><term>Genital Diseases, Male (pathology)</term><term>Humans</term><term>Intellectual Disability (pathology)</term><term>Lymphangiectasis, Intestinal (pathology)</term><term>Lymphedema (pathology)</term><term>Male</term><term>Skin Diseases (pathology)</term><term>Syndrome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Déficience intellectuelle (anatomopathologie)</term><term>Humains</term><term>Incapacités de développement (anatomopathologie)</term><term>Lymphangiectasie intestinale (anatomopathologie)</term><term>Lymphoedème (anatomopathologie)</term><term>Maladies de l'appareil génital mâle (anatomopathologie)</term><term>Maladies de la peau (anatomopathologie)</term><term>Malformations crâniofaciales (anatomopathologie)</term><term>Mâle</term><term>Syndrome</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Déficience intellectuelle</term><term>Incapacités de développement</term><term>Lymphangiectasie intestinale</term><term>Lymphoedème</term><term>Maladies de l'appareil génital mâle</term><term>Maladies de la peau</term><term>Malformations crâniofaciales</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Craniofacial Abnormalities</term><term>Developmental Disabilities</term><term>Genital Diseases, Male</term><term>Intellectual Disability</term><term>Lymphangiectasis, Intestinal</term><term>Lymphedema</term><term>Skin Diseases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Humans</term><term>Male</term><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Humains</term><term>Mâle</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe a 16-year-old boy with intestinal lymphangiectasia, lymphedema of the limbs and genitalia, mild mental retardation, and facial anomalies (Hennekam syndrome) and cutaneous lesions. Severe edema in the genital area created a gigantic mass that included the scrotum and penis. Numerous grouped red-violaceous pseudo-vesicular lesions and plaques, as well as verrucous brown papules, were present on the penis and scrotum. The prepuce was hypertrophic, with severe phimosis. Histologic analysis revealed dilated lymphatic vessels lined by a discontinuous layer of flat endothelial cells in the papillary dermis and extending down to the reticular dermis. Dilated blood vessels were also present but no cellular abnormalities were identified. A diagnosis of superficial cutaneous lymphatic malformations was made. To the best of our knowledge, this is the first detailed cutaneous histologic investigation in a patient with Hennekam syndrome. We assume that the onset of cutaneous lesions in our patient was likely triggered by a generalized worsening of his lymphedema.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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