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Case Report
Online Published: 24 Mar 2023
 


Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report

Fuad Al Mutairi, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, Asma Awadalla.


Abstract
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.

Key words: Atopic dermatitis, MPL, thrombocytosis, CARD11, whole exome sequencing.


 
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How to Cite this Article
Pubmed Style

Mutairi FA, Alberreet M, Alkuhaimi L, Aleisa K, Almana R, Awadalla A. Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report. JBCGenetics. 2023; 6(1): 80-84. doi:10.24911/JBCGenetics/183-1671616459

Web Style

Mutairi FA, Alberreet M, Alkuhaimi L, Aleisa K, Almana R, Awadalla A. Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report. https://www.jbcgenetics.com/?mno=129166 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1671616459

AMA (American Medical Association) Style

Mutairi FA, Alberreet M, Alkuhaimi L, Aleisa K, Almana R, Awadalla A. Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report. JBCGenetics. 2023; 6(1): 80-84. doi:10.24911/JBCGenetics/183-1671616459


Vancouver/ICMJE Style

Mutairi FA, Alberreet M, Alkuhaimi L, Aleisa K, Almana R, Awadalla A. Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report. JBCGenetics. (2023), [cited November 14, 2024]; 6(1): 80-84. doi:10.24911/JBCGenetics/183-1671616459


Harvard Style

Mutairi, F. A., Alberreet, . M., Alkuhaimi, . L., Aleisa, . K., Almana, . R. & Awadalla, . A. (2023) Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report. JBCGenetics, 6 (1), 80-84. doi:10.24911/JBCGenetics/183-1671616459


Turabian Style

Mutairi, Fuad Al, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, and Asma Awadalla. 2023. Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report. Journal of Biochemical and Clinical Genetics, 6 (1), 80-84. doi:10.24911/JBCGenetics/183-1671616459


Chicago Style

Mutairi, Fuad Al, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, and Asma Awadalla. "Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report." Journal of Biochemical and Clinical Genetics 6 (2023), 80-84. doi:10.24911/JBCGenetics/183-1671616459


MLA (The Modern Language Association) Style

Mutairi, Fuad Al, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, and Asma Awadalla. "Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report." Journal of Biochemical and Clinical Genetics 6.1 (2023), 80-84. Print. doi:10.24911/JBCGenetics/183-1671616459


APA (American Psychological Association) Style

Mutairi, F. A., Alberreet, . M., Alkuhaimi, . L., Aleisa, . K., Almana, . R. & Awadalla, . A. (2023) Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report. Journal of Biochemical and Clinical Genetics, 6 (1), 80-84. doi:10.24911/JBCGenetics/183-1671616459




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