Periodontal condition and treatment in a patient with rare systemic condition: A case report for acid sphingomyelinase deficiency.

Background: Acid sphingomyelinase deficiency (ASMD) is a rare group of autosomal recessive disorders. This report provides the first detailed description of the periodontal condition and treatment response in a patient with chronic visceral ASMD.

Case Description: A 49-year-old white woman with ASMD showed elevated visible plaque index (VPI), gingival bleeding index (GBI), and bleeding on probing (BOP) at 100% of sites.

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency.

The aim of this study was to evaluate the oral, dental, and craniofacial features of individuals affected by the chronic forms of acid sphingomyelinase deficiency (ASMD). This study comprised a sample of adult and pediatric patients (n = 8) with chronic ASMD. The individuals underwent oral examinations to evaluate the occurrence of caries, as well as full-mouth periodontal examinations, to assess the occurrence and severity of periodontal diseases.