The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature
LEOPARD syndrome is a rare congenital anomaly that involves several organs. Patients with this syndrome develop multiple lentigines resembling a leopard’s hide. LEOPARD is an acronym of the major features constituting the syndrome including lentigines, electrocardiographic conduction defects, ocular...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hindawi Limited
2021-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2021/8197435 |
| _version_ | 1826998851620306944 |
|---|---|
| author | Hao Trong Nguyen Nguyen Nhat Pham Hoang Anh Vu Tu Nguyen Anh Tran |
| author_facet | Hao Trong Nguyen Nguyen Nhat Pham Hoang Anh Vu Tu Nguyen Anh Tran |
| author_sort | Hao Trong Nguyen |
| collection | DOAJ |
| description | LEOPARD syndrome is a rare congenital anomaly that involves several organs. Patients with this syndrome develop multiple lentigines resembling a leopard’s hide. LEOPARD is an acronym of the major features constituting the syndrome including lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, anomalies of genitalia, retardation of growth, and deafness. The syndrome is rare, and only 200 cases have been reported yet worldwide. We present the case of an 8-year-old female patient who visited the Ho Chi Minh City Hospital of Dermato-Venereology because of multiple brownish-black “dots” on her face and body. On examination, she also showed abnormalities in the maxillofacial bones, vertebrae, shoulders, sternum, and teeth, as well as deaf-mutism and growth retardation, which are typical of LEOPARD syndrome. Genetic analysis revealed a PTPN11 gene mutation in this case. To the best of our knowledge, this is the first case of LEOPARD syndrome reported in Vietnam. |
| first_indexed | 2024-04-11T20:00:38Z |
| format | Article |
| id | doaj.art-b7eeb47e77a440d7ad754d264bdf1b2b |
| institution | Directory Open Access Journal |
| issn | 2090-6544 2090-6552 |
| language | English |
| last_indexed | 2025-02-18T10:21:50Z |
| publishDate | 2021-01-01 |
| publisher | Hindawi Limited |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj.art-b7eeb47e77a440d7ad754d264bdf1b2b2024-11-02T05:31:15ZengHindawi LimitedCase Reports in Genetics2090-65442090-65522021-01-01202110.1155/2021/81974358197435The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the LiteratureHao Trong Nguyen0Nguyen Nhat Pham1Hoang Anh Vu2Tu Nguyen Anh Tran3Ho Chi Minh City Hospital of Dermato-Venereology, Ho Chi Minh City, VietnamHo Chi Minh City Hospital of Dermato-Venereology, Ho Chi Minh City, VietnamCenter for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, VietnamHo Chi Minh City Hospital of Dermato-Venereology, Ho Chi Minh City, VietnamLEOPARD syndrome is a rare congenital anomaly that involves several organs. Patients with this syndrome develop multiple lentigines resembling a leopard’s hide. LEOPARD is an acronym of the major features constituting the syndrome including lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, anomalies of genitalia, retardation of growth, and deafness. The syndrome is rare, and only 200 cases have been reported yet worldwide. We present the case of an 8-year-old female patient who visited the Ho Chi Minh City Hospital of Dermato-Venereology because of multiple brownish-black “dots” on her face and body. On examination, she also showed abnormalities in the maxillofacial bones, vertebrae, shoulders, sternum, and teeth, as well as deaf-mutism and growth retardation, which are typical of LEOPARD syndrome. Genetic analysis revealed a PTPN11 gene mutation in this case. To the best of our knowledge, this is the first case of LEOPARD syndrome reported in Vietnam.http://dx.doi.org/10.1155/2021/8197435 |
| spellingShingle | Hao Trong Nguyen Nguyen Nhat Pham Hoang Anh Vu Tu Nguyen Anh Tran The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature Case Reports in Genetics |
| title | The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature |
| title_full | The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature |
| title_fullStr | The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature |
| title_full_unstemmed | The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature |
| title_short | The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature |
| title_sort | first vietnamese patient of leopard syndrome due to a ptpn11 mutation a case report and review of the literature |
| url | http://dx.doi.org/10.1155/2021/8197435 |
| work_keys_str_mv | AT haotrongnguyen thefirstvietnamesepatientofleopardsyndromeduetoaptpn11mutationacasereportandreviewoftheliterature AT nguyennhatpham thefirstvietnamesepatientofleopardsyndromeduetoaptpn11mutationacasereportandreviewoftheliterature AT hoanganhvu thefirstvietnamesepatientofleopardsyndromeduetoaptpn11mutationacasereportandreviewoftheliterature AT tunguyenanhtran thefirstvietnamesepatientofleopardsyndromeduetoaptpn11mutationacasereportandreviewoftheliterature AT haotrongnguyen firstvietnamesepatientofleopardsyndromeduetoaptpn11mutationacasereportandreviewoftheliterature AT nguyennhatpham firstvietnamesepatientofleopardsyndromeduetoaptpn11mutationacasereportandreviewoftheliterature AT hoanganhvu firstvietnamesepatientofleopardsyndromeduetoaptpn11mutationacasereportandreviewoftheliterature AT tunguyenanhtran firstvietnamesepatientofleopardsyndromeduetoaptpn11mutationacasereportandreviewoftheliterature |