JBCGenetics |

Case Report

Volume: 6 | Issue: 1 | Published: Mar 24, 2023 | Pages: 80 - 84 | DOI: 10.24911/JBCGenetics/183-1671616459

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

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

Authors

Fuad Al Mutairi

Department 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.

ORCID

Meshal Alberreet

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

Lara Alkuhaimi

Khalid Aleisa

Rana Almana

Asma Awadalla

Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia

Publication History

Received: December 21, 2022

Revised: January 25, 2023

Accepted: January 29, 2023

Published: March 24, 2023

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.

Keywords: Atopic dermatitis, MPL, thrombocytosis, CARD11, whole exome sequencing

Pubmed Style

Fuad Al Mutairi, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, Asma Awadalla. Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report. JBC Genetics. 2023; 24 (March 2023): 80-84. doi:10.24911/JBCGenetics/183-1671616459

Web Style

Fuad Al Mutairi, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, Asma Awadalla. Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report. https://www.jbcgenetics.com/articles/2086 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1671616459

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Fuad Al Mutairi, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, Asma Awadalla. Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report. JBC Genetics. (2023), [cited April 27, 2025]; 24 (March 2023): 80-84. doi:10.24911/JBCGenetics/183-1671616459

Harvard Style

Fuad Al Mutairi, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, Asma Awadalla (2023) Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report. JBC Genetics, 24 (March 2023): 80-84. doi:10.24911/JBCGenetics/183-1671616459

Chicago Style

Fuad Al Mutairi, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, Asma Awadalla. "Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report." 24 (2023), 80-84. doi:10.24911/JBCGenetics/183-1671616459

MLA (The Modern Language Association) Style

Fuad Al Mutairi, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, Asma Awadalla. "Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report." 24.March 2023 (2023), 80-84. Print. doi:10.24911/JBCGenetics/183-1671616459

APA (American Psychological Association) Style

Fuad Al Mutairi, Meshal Alberreet, Lara Alkuhaimi, Khalid Aleisa, Rana Almana, Asma Awadalla (2023) Coexistence of atopic dermatitis and thrombocytosis: diagnostic odyssey: a case report. , 24 (March 2023), 80-84. doi:10.24911/JBCGenetics/183-1671616459