Mutations of the ELANE gene cause severe congenital neutropenia with periodontal disease: a case report / 华西口腔医学杂志

ABSTRACT

Severe congenital neutropenia is a rare disorder characterized by a consistently low absolute neutrophil count and periodontal disease. This report describes the case of an ELANE mutationin a patient with gingival bleeding and tooth mobility. Oral examination showed active periodontal infection of the primary dentition accompanied by alveolar bone loss in the posterior region. The patient was diagnosed with severe congenital neutropenia 1 year after multidisciplinary consultation. Treatment of the systemic disease and effective oral health education over a 3-year follow-up period relieved the periodontal infection and created favorable conditions for future repair.