A Saudi Child With Chronic Immune Thrombocytopenia and Vitiligo.
behcet
citp
tnf aip3 gene
tpo receptor agonist
vitiligo
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
21 Jul 2020
21 Jul 2020
Historique:
entrez:
28
7
2020
pubmed:
28
7
2020
medline:
28
7
2020
Statut:
epublish
Résumé
Chronic immune thrombocytopenia (ITP) is less commonly found in the children presenting with ITP. Patients usually present with petechiae, purpura, or active bleeding in the form of epistaxis or hematuria. The main aim of treatment in chronic ITP is to prevent major bleeding and to increase the platelet count. High doses of corticosteroids, intravenous immunoglobulin, rituximab, and eltrombopag, a thrombopoietin receptor agonist (TPO-RA), are medications that can be used. In this report, we present a case of chronic ITP in a 12-year-old child. In addition to features of chronic ITP, he also has vitiligo around his eyes and limbs. During treatment, he was resistant to steroids and did not respond to rituximab or eltrombopag. To understand the cause of his presenting features, we did multiple diagnostic evaluations. The whole-exome sequencing raises the possibility of auto-inflammatory syndrome Behcet-like (AISBL), which is a rare genetic disorder and not frequently reported in the available medical literature. AISBL is caused by mutations in the TNFAIP3 gene. According to our best knowledge, this is the first Saudi child diagnosed with chronic ITP and vitiligo with the possibility of AISBL that needs further genetic work-up to confirm the diagnosis.
Identifiants
pubmed: 32714711
doi: 10.7759/cureus.9314
pmc: PMC7377009
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e9314Informations de copyright
Copyright © 2020, Alhebshi et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
Références
Front Immunol. 2017 Apr 19;8:399
pubmed: 28469620
Am J Hematol. 2010 Mar;85(3):174-80
pubmed: 20131303
Curr Rheumatol Rep. 2010 Apr;12(2):94-100
pubmed: 20425017
Blood. 2009 Nov 26;114(23):4777-83
pubmed: 19767509
Sudan J Paediatr. 2012;12(1):27-39
pubmed: 27493327
J Am Acad Dermatol. 2008 Apr;58(4):579-84
pubmed: 18045733
Nat Genet. 2016 Jan;48(1):67-73
pubmed: 26642243
Blood. 2009 Mar 12;113(11):2386-93
pubmed: 19005182
PLoS One. 2012;7(5):e36698
pubmed: 22666325
Hematology Am Soc Hematol Educ Program. 2012;2012:444-9
pubmed: 23233617
Blood. 2012 Jun 21;119(25):5989-95
pubmed: 22566601
Pediatr Blood Cancer. 2006 Oct 15;47(5 Suppl):737-9
pubmed: 16933257