Periodontal Disease in Two Siblings with VPS45-associated Severe Congenital Neutropenia Type V: A Case Report

摘要

VPS45-associated severe congenital neutropenia type V (VPS45-associated SCN5) is an autosomal recessive disorder caused by defective endosomal intracellular protein trafficking due to mutations in VPS45 underlies a reduced absolute neutrophil count >500 cells/mm3 and impaired neutrophil function. VPS45-associated SCN5 is a very rare condition with only 19 patients previously reported in the literature. Patients suffering from this disorder having profound neutropenia in the first months of life, fever, pneumonitis, skin infections, oral ulcerations, and gingivitis. This paper reports the first two cases of VPS45-associated SCN5 in Saudi Arabia and describes the treatment approaches for periodontal disease as a manifestation of that disorder since the existing dental literature is lacking sufficient information on the management of those kinds of patients. The present two cases reflect the importance of early diagnosis of periodontal disease as a possible indicator of underlying systemic disease.