Manifestation of severe congenital neutropenia in the oral cavity. Case report

Severe congenital neutropenia (SCN) comprises a heterogenous group of disorders characterized by a constantly low absolute neutrophil count (ANC) below 0.5 × 109/l in the peripheral blood and maturation arrest of the myelopoiesis in the bone marrow at the promyelocyte/myelocyte stage that lead to ea...

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Main Authors: Ewa Krasuska-Sławińska, Maja Klaudel-Dreszler, Marta Minota, Magdalena Pożyczka-Fedor, Dorota Olczak-Kowalczyk, Izabela Minko-Chojnowska
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Language:English
Published: Termedia Publishing House 2023-02-01
Series:Central European Journal of Immunology
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Online Access:https://www.termedia.pl/Manifestation-of-severe-congenital-neutropenia-r-nin-the-oral-cavity-Case-report,10,50185,1,1.html
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author Ewa Krasuska-Sławińska
Maja Klaudel-Dreszler
Marta Minota
Magdalena Pożyczka-Fedor
Dorota Olczak-Kowalczyk
Izabela Minko-Chojnowska
author_facet Ewa Krasuska-Sławińska
Maja Klaudel-Dreszler
Marta Minota
Magdalena Pożyczka-Fedor
Dorota Olczak-Kowalczyk
Izabela Minko-Chojnowska
author_sort Ewa Krasuska-Sławińska
collection DOAJ
description Severe congenital neutropenia (SCN) comprises a heterogenous group of disorders characterized by a constantly low absolute neutrophil count (ANC) below 0.5 × 109/l in the peripheral blood and maturation arrest of the myelopoiesis in the bone marrow at the promyelocyte/myelocyte stage that lead to early onset of severe bacterial infections in affected patients. Clinical symptoms of congenital neutropenia include sepsis, recurrent respiratory tract infections, mouth ulceration, chronic gingivitis, bacterial skin infections, and urinary tract infections. Patients with SCN often develop periodontitis despite standard medical and dental care. We present oral symptoms in our patient afflicted with SCN due to homozygous mutations in the JAGN1 gene, based on 16 years of observation and treatment at the Paediatric Dentistry Clinic of Children’s Memorial Health Institute. In our patient, oral cavity changes typical for SCN – in the form of gingivitis and bleeding from periodontal tissues – appeared around the age of 2 and led to the premature loss of primary teeth. The patient also developed an advanced periodontal disease in the permanent dentition, resulting in the loss of 21 teeth at 15 years of age. Dental care of patients with SCN should be carried out in close cooperation with an immunologist, and dental procedures associated with the risk of bacteremia require antibiotic prophylaxis.
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spelling doaj-art-9c8a478a7d7a46c19c02e7f2110973d42025-08-20T02:09:25ZengTermedia Publishing HouseCentral European Journal of Immunology1426-39121644-41242023-02-01481707410.5114/ceji.2023.12531250185Manifestation of severe congenital neutropenia in the oral cavity. Case reportEwa Krasuska-SławińskaMaja Klaudel-DreszlerMarta MinotaMagdalena Pożyczka-FedorDorota Olczak-KowalczykIzabela Minko-ChojnowskaSevere congenital neutropenia (SCN) comprises a heterogenous group of disorders characterized by a constantly low absolute neutrophil count (ANC) below 0.5 × 109/l in the peripheral blood and maturation arrest of the myelopoiesis in the bone marrow at the promyelocyte/myelocyte stage that lead to early onset of severe bacterial infections in affected patients. Clinical symptoms of congenital neutropenia include sepsis, recurrent respiratory tract infections, mouth ulceration, chronic gingivitis, bacterial skin infections, and urinary tract infections. Patients with SCN often develop periodontitis despite standard medical and dental care. We present oral symptoms in our patient afflicted with SCN due to homozygous mutations in the JAGN1 gene, based on 16 years of observation and treatment at the Paediatric Dentistry Clinic of Children’s Memorial Health Institute. In our patient, oral cavity changes typical for SCN – in the form of gingivitis and bleeding from periodontal tissues – appeared around the age of 2 and led to the premature loss of primary teeth. The patient also developed an advanced periodontal disease in the permanent dentition, resulting in the loss of 21 teeth at 15 years of age. Dental care of patients with SCN should be carried out in close cooperation with an immunologist, and dental procedures associated with the risk of bacteremia require antibiotic prophylaxis.https://www.termedia.pl/Manifestation-of-severe-congenital-neutropenia-r-nin-the-oral-cavity-Case-report,10,50185,1,1.htmlperiodontal disease severe congenital neutropenia oral ulceration
spellingShingle Ewa Krasuska-Sławińska
Maja Klaudel-Dreszler
Marta Minota
Magdalena Pożyczka-Fedor
Dorota Olczak-Kowalczyk
Izabela Minko-Chojnowska
Manifestation of severe congenital neutropenia in the oral cavity. Case report
Central European Journal of Immunology
periodontal disease
severe congenital neutropenia
oral ulceration
title Manifestation of severe congenital neutropenia in the oral cavity. Case report
title_full Manifestation of severe congenital neutropenia in the oral cavity. Case report
title_fullStr Manifestation of severe congenital neutropenia in the oral cavity. Case report
title_full_unstemmed Manifestation of severe congenital neutropenia in the oral cavity. Case report
title_short Manifestation of severe congenital neutropenia in the oral cavity. Case report
title_sort manifestation of severe congenital neutropenia in the oral cavity case report
topic periodontal disease
severe congenital neutropenia
oral ulceration
url https://www.termedia.pl/Manifestation-of-severe-congenital-neutropenia-r-nin-the-oral-cavity-Case-report,10,50185,1,1.html
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