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

Am J Med Genet A 2020 Dec;182(12):2891-2901. doi: 10.1002/ajmg.a.61871.

PMID: 32946203

Cláubia V Bender 1, Heraldo L D da Silveira 2, Natália S Dos Santos

Highlights: Individuals with chronic ASMD have considerable alterations in their oral health, including a higher prevalence of dental abnormalities, caries, periodontal disease, and skeletal changes, in addition to various systemic indications.

Abstract

Objective: The goal of this study was to assess the oral, dental, and craniofacial characteristics of individuals with chronic acid sphingomyelinase deficiency (ASMD).

Methods: Adult and pediatric patients with chronic ASMD (n = 8) were included in this investigation. The participants had full-mouth periodontal exams to assess the presence and severity of periodontal disorders, as well as oral examinations to assess the occurrence and severity of caries. To examine dental problems and craniofacial characteristics, panoramic and profile radiographs were taken. Participants were also asked to complete questionnaires to determine if they had systemic impairment, parafunctional behaviors, or bruxism.

Results: Dental anomalies of size, shape, and number were found, with agenesis and microdontia being the most common malformations. Caries experience was on average 11.75 (8.1). Only one patient had healthy gums, and rest of the adults had periodontitis in various stages and degrees. Bruxism was discovered in 87.5% of the participants. The most important findings in the cephalometric examination were the convex profile and maxillary and mandibular retrusion.

Conclusion: Individuals with chronic ASMD have considerable alterations in their oral health, including a higher prevalence of dental abnormalities, caries, periodontal disease, and skeletal changes, in addition to various systemic indications.

Keywords: ASMD, acid sphingomyelinase deficiency, caries, craniofacial anomalies, dental anomalies, periodontal disease