ORAL MANIFESTATIONS OF KOSTMANN SYNDROME: CASE REPORT

Kostmann syndrome (KS), or severe congenital neutropenia, is a rare autosomal recessive genetic disorder with a mutation in the HAX1 gene, located on chromosome 1 q21.3. The typical symptoms are abscesses located on various parts of the body: ear, cutis, lung, and oral cavity. The decrease in the nu...

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Published in:Oral surgery, oral medicine, oral pathology and oral radiology oral medicine, oral pathology and oral radiology, 2020-01, Vol.129 (1), p.e118-e118
Main Authors: DE ANDRADE PONTES, RAQUEL RICHELIEU LIMA, DE SOUZA, ANA CAROLINE PENCHINÁ, PEREIRA, JULIANA SOARES, KREBS, RENATO LIESS, FILHO, WAGNER PEREIRA COUTINHO, DE ASSIS FERREIRA, NANCY
Format: Article
Language:English
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Summary:Kostmann syndrome (KS), or severe congenital neutropenia, is a rare autosomal recessive genetic disorder with a mutation in the HAX1 gene, located on chromosome 1 q21.3. The typical symptoms are abscesses located on various parts of the body: ear, cutis, lung, and oral cavity. The decrease in the number of neutrophils alters the host defense capacity, causing periodontal disease to manifest at an early age, with gingival inflammation, aggressive periodontal destruction, edema, periodontal pouches, and tooth mobility. The aim of this report is to describe the most typical signs of this pathology in the oral cavity presenting the case of a 15-year-old adolescent girl diagnosed as having congenital neutropenia with generalized early-onset periodontitis aggravated by this systemic condition and recurrent oral infections, generalized bleeding, and early dental loss.
ISSN:2212-4403
2212-4411
DOI:10.1016/j.oooo.2019.06.511