A Case of Male Goltz Syndrome
We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressi...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2012/728509 |
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| _version_ | 1832561208778031104 |
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| author | Bhaswati Ghoshal Subhrajit Lahiri Debabrata Nandi |
| author_facet | Bhaswati Ghoshal Subhrajit Lahiri Debabrata Nandi |
| author_sort | Bhaswati Ghoshal |
| collection | DOAJ |
| description | We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported. |
| format | Article |
| id | doaj-art-2ed8d7be6a46452d88ab35436226c765 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-2ed8d7be6a46452d88ab35436226c7652025-02-03T01:25:35ZengWileyCase Reports in Pediatrics2090-68032090-68112012-01-01201210.1155/2012/728509728509A Case of Male Goltz SyndromeBhaswati Ghoshal0Subhrajit Lahiri1Debabrata Nandi2Pediatric Medicicne, Calcutta National Medical College and Hospital, Kolkata, IndiaPediatric Medicicne, Calcutta National Medical College and Hospital, Kolkata, IndiaPediatric Medicicne, Calcutta National Medical College and Hospital, Kolkata, IndiaWe present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported.http://dx.doi.org/10.1155/2012/728509 |
| spellingShingle | Bhaswati Ghoshal Subhrajit Lahiri Debabrata Nandi A Case of Male Goltz Syndrome Case Reports in Pediatrics |
| title | A Case of Male Goltz Syndrome |
| title_full | A Case of Male Goltz Syndrome |
| title_fullStr | A Case of Male Goltz Syndrome |
| title_full_unstemmed | A Case of Male Goltz Syndrome |
| title_short | A Case of Male Goltz Syndrome |
| title_sort | case of male goltz syndrome |
| url | http://dx.doi.org/10.1155/2012/728509 |
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