Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report
Background: Atopic dermatitis (AD) is one of the most common diseases encountered in pediatric practice. Genetic factors play a role in the development of this condition. Topical corticosteroids are the cornerstone of AD management, but with potentially serious adverse events. Misuse of these medica...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2023-06-01
|
| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=129166 |
| _version_ | 1827938685941710848 |
|---|---|
| author | Fuad Al Mutairi Meshal Alberreet Lara Alkuhaimi Khalid Aleisa Rana Almana Asma Awadalla |
| author_facet | Fuad Al Mutairi Meshal Alberreet Lara Alkuhaimi Khalid Aleisa Rana Almana Asma Awadalla |
| author_sort | Fuad Al Mutairi |
| collection | DOAJ |
| description | Background: Atopic dermatitis (AD) is one of the most common diseases encountered in pediatric practice. Genetic factors play a role in the development of this condition. Topical corticosteroids are the cornerstone of AD management, but with potentially serious adverse events. Misuse of these medications is not uncommon.
Case Presentation: We describe a case of severe AD with inadvertent overuse of topical steroids. The patient presented with multisystem involvement and a cushingoid appearance. Laboratory tests showed thrombocytosis and abnormal liver function test, among other findings. A whole exome test showed mutations in two genes, a homozygous pathogenic variant c.317C>T p.(Pro106Leu) in the protooncogene, thrombopoietin receptor (MPL) gene (NM_005373.2) inherited from both parents and a de novo heterozygous c.139C>T p.(Arg- 47Cys) in the CARD11 gene (NM_001324281.1), that explain her combined presentation.
Conclusion: The aim of this report is to share our experience with the diagnosis and treatment of a challenging case. This report also shows the association between the MPL, CARD11 genes, and severe AD. In addition, this case is consistent with the published literature on systemic involvement in severe AD and variable response to routine management. [JBCGenetics 2023; 6(1.000): 80-84] |
| first_indexed | 2024-03-13T08:41:33Z |
| format | Article |
| id | doaj.art-e857a363e2c4495c919c589335a84624 |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:33Z |
| publishDate | 2023-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-e857a363e2c4495c919c589335a846242023-05-30T11:51:12ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2023-06-0161808410.24911/JBCGenetics/183-1671616459129166Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case reportFuad Al Mutairi0Meshal Alberreet1Lara Alkuhaimi2Khalid Aleisa3Rana Almana4Asma AwadallaDepartment of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, Ministry of National Guard Health Affairs, Riyadh, Saudi ArabiaBackground: Atopic dermatitis (AD) is one of the most common diseases encountered in pediatric practice. Genetic factors play a role in the development of this condition. Topical corticosteroids are the cornerstone of AD management, but with potentially serious adverse events. Misuse of these medications is not uncommon. Case Presentation: We describe a case of severe AD with inadvertent overuse of topical steroids. The patient presented with multisystem involvement and a cushingoid appearance. Laboratory tests showed thrombocytosis and abnormal liver function test, among other findings. A whole exome test showed mutations in two genes, a homozygous pathogenic variant c.317C>T p.(Pro106Leu) in the protooncogene, thrombopoietin receptor (MPL) gene (NM_005373.2) inherited from both parents and a de novo heterozygous c.139C>T p.(Arg- 47Cys) in the CARD11 gene (NM_001324281.1), that explain her combined presentation. Conclusion: The aim of this report is to share our experience with the diagnosis and treatment of a challenging case. This report also shows the association between the MPL, CARD11 genes, and severe AD. In addition, this case is consistent with the published literature on systemic involvement in severe AD and variable response to routine management. [JBCGenetics 2023; 6(1.000): 80-84]http://www.ejmanager.com/fulltextpdf.php?mno=129166atopic dermatitismplthrombocytosiscard11whole exome sequencing |
| spellingShingle | Fuad Al Mutairi Meshal Alberreet Lara Alkuhaimi Khalid Aleisa Rana Almana Asma Awadalla Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report Journal of Biochemical and Clinical Genetics atopic dermatitis mpl thrombocytosis card11 whole exome sequencing |
| title | Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report |
| title_full | Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report |
| title_fullStr | Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report |
| title_full_unstemmed | Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report |
| title_short | Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report |
| title_sort | coexistence of atopic dermatitis and thrombocytosis diagnostic odyssey a case report |
| topic | atopic dermatitis mpl thrombocytosis card11 whole exome sequencing |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=129166 |
| work_keys_str_mv | AT fuadalmutairi coexistenceofatopicdermatitisandthrombocytosisdiagnosticodysseyacasereport AT meshalalberreet coexistenceofatopicdermatitisandthrombocytosisdiagnosticodysseyacasereport AT laraalkuhaimi coexistenceofatopicdermatitisandthrombocytosisdiagnosticodysseyacasereport AT khalidaleisa coexistenceofatopicdermatitisandthrombocytosisdiagnosticodysseyacasereport AT ranaalmana coexistenceofatopicdermatitisandthrombocytosisdiagnosticodysseyacasereport AT asmaawadalla coexistenceofatopicdermatitisandthrombocytosisdiagnosticodysseyacasereport |