Cutaneous manifestations and massive genital involvement in Hennekam syndrome.
Identifieur interne : 003959 ( PubMed/Curation ); précédent : 003958; suivant : 003960Cutaneous manifestations and massive genital involvement in Hennekam syndrome.
Auteurs : Maria Letizia Musumeci [Italie] ; Maria Rita Nasca ; Rocco De Pasquale ; Robert A. Schwartz ; Giuseppe MicaliSource :
- Pediatric dermatology [ 0736-8046 ]
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
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.
DOI: 10.1111/j.1525-1470.2006.00225.x
PubMed: 16780470
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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><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">16780470</PMID><DateCreated><Year>2006</Year><Month>06</Month><Day>19</Day></DateCreated><DateCompleted><Year>2006</Year><Month>12</Month><Day>11</Day></DateCompleted><DateRevised><Year>2011</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0736-8046</ISSN><JournalIssue CitedMedium="Print"><Volume>23</Volume><Issue>3</Issue><PubDate><MedlineDate>2006 May-Jun</MedlineDate></PubDate></JournalIssue><Title>Pediatric dermatology</Title><ISOAbbreviation>Pediatr Dermatol</ISOAbbreviation></Journal><ArticleTitle>Cutaneous manifestations and massive genital involvement in Hennekam syndrome.</ArticleTitle><Pagination><MedlinePgn>239-42</MedlinePgn></Pagination><Abstract><AbstractText>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. 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