Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study

Clin Oral Investig. 2018 Jan;22(1):201-208. doi: 10.1007/s00784-017-2100-8. Epub 2017 Mar 19.


Objective: The aim of this study is to assess oral manifestations in patients with mucopolysaccharidosis IV (MPS IVA) and mucopolysaccharidosis VI (MPS VI).

Materials and methods: Seventeen patients were assessed, nine with MPS IVA and eight with MPS VI, treated at the Medical Genetics Outpatient Clinic of Hospital Universitário Alcides Carneiro (HUAC) in Campina Grande, Paraíba State, Brazil. Assessments included clinical and intraoral examinations, analysis of occlusal function, and panoramic X-rays.

Results: Among all, 64.7% of the patients had unerupted teeth and 52.9% of them had enamel hypoplasia. Regarding the temporomandibular joint, 88.2% of the patients showed flattening of the mandibular condyle, 52.9% showed condylar hypoplasia, and all of them showed decreased mobility. Enamel hypoplasia was observed only in patients with MPS IVA (p < 0.05). On the other hand, only MPS VI patients presented with anterior open bite, restricted mouth opening (p < 0.05), and a higher rate of unerupted teeth, hyperplastic tooth follicle, and condylar defects (p < 0.05).

Conclusions: Enamel hypoplasia was observed only in patients with MPS IVA, whereas anterior open bite was observed only in patients with MPS VI. Abnormal findings in the maxillomandibular complex were more frequent in patients with MPS VI.

Clinical relevance: The relevant frequency of MPS VI and IVA in the sample allows us to compare the changes occurring in both groups of patients, therefore enabling us to further comprehend the oral manifestations in specific types of MPS.

Keywords: Lysosomal; Maroteaux–Lamy syndrome; Morquio syndrome; Mucopolysaccharidosis; Storage diseases; Temporomandibular joint.

Publication types

  • Observational Study

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cross-Sectional Studies
  • Female
  • Humans
  • Male
  • Mouth Diseases / diagnosis
  • Mouth Diseases / etiology*
  • Mucopolysaccharidosis IV / complications*
  • Mucopolysaccharidosis VI / complications*
  • Radiography, Panoramic