Oral and systemic manifestations of mucopolysaccharidosis type VI: a report of seven cases.
Mucopolysaccharidosis (MPS) is a group of rare metabolic diseases characterized by intralysosomal accumulation of glycosaminoglycans. MPS type VI or Maroteaux-Lamy syndrome is an autosomal-recessive syndrome caused by mutations in the lysosomal enzyme arylsulfatase B. A defect in the gene leads to accumulation of nondegraded mucopolysaccharides, resulting in severe cellular dysfunction with multisystem expression. The oral manifestations of MPS VI are not well described in the literature. This paper presents a series of seven patients with MPS VI, with the description of the general clinical manifestations and focus on the still rarely studied oral manifestations of the syndrome. Among them were high palate, open bite, impacted and/or included teeth, thickening of the pericoronal follicle, and changes in the temporomandibular joint.
State University of Paraíba, Campina Grande City, Brazil. renata.qa@gmail.com
Renata Quirino
RQ
de Almeida-Barros
Salomão Cury-Rad
SC
Oka
Ana Carolina Barbosa
AC
Pordeus
Paula Frassinetti Vasconcelos
PF
de Medeiros
Patricia Meira
PM
Bento
Gustavo Pina
GP
Godoy
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003795:Dental Sac / Q000473:pathology; D003970:Diastema / Q000209:etiology; D005260:Female; D006801:Humans; D008260:Macroglossia / Q000209:etiology; D008297:Male; D008310:Malocclusion / Q000209:etiology; D009059:Mouth Diseases / Q000209:etiology*; D009087:Mucopolysaccharidosis VI / Q000150:complications*; D024343:Open Bite / Q000209:etiology; D010159:Palate / Q000002:abnormalities; D013705:Temporomandibular Joint Disorders / Q000209:etiology; D014095:Tooth, Impacted / Q000209:etiology