The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): A case report

Maroteaux-Lamy syndrome is one of the genetic disorders involving disturbances in mucopolysaccharide metabolism resulting in increased storage of acid mucopolysaccharide in various tissues. The basic defect in Maroteaux-Lamy syndrome is a deficiency of arylsulfatase B, which leads to accumulation of...

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Published in:Oral surgery, oral medicine, oral pathology, oral radiology and endodontics oral medicine, oral pathology, oral radiology and endodontics, 2006-05, Vol.101 (5), p.632-637
Main Authors: Alpöz, Ali Rıza, Çoker, Mahmut, Çelen, Elif, Ersin, Nazan Kocatas, Gökçen, Damla, van Diggelenc, Otto P., Huijmansc, Jan G.M.
Format: Article
Language:English
Subjects:
Alveolar Process - abnormalities
Biological and medical sciences
Carbohydrates (enzymatic deficiencies). Glycogenosis
Child
Consanguinity
Dentigerous Cyst - etiology
Dentistry
Errors of metabolism
Gingival Hyperplasia - etiology
Humans
Macroglossia - etiology
Male
Medical sciences
Metabolic diseases
Mouth Abnormalities - etiology
Mucopolysaccharidosis VI - complications
Mucopolysaccharidosis VI - pathology
Open Bite - etiology
Otorhinolaryngology. Stomatology
Palate, Hard - abnormalities
Pedigree
Tooth Abnormalities - etiology
Tooth, Unerupted - etiology
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Summary:Maroteaux-Lamy syndrome is one of the genetic disorders involving disturbances in mucopolysaccharide metabolism resulting in increased storage of acid mucopolysaccharide in various tissues. The basic defect in Maroteaux-Lamy syndrome is a deficiency of arylsulfatase B, which leads to accumulation of dermatan sulfate in tissues and their urinary excretion. The deposition of mucopolysaccharides leads to a progressive disorder involving multiple organs that often results in death in the second decade of life. This disease, which has several oral and dental manifestations, is first diagnosed on the basis of clinical findings. A large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior dimension are the main characteristic features. Dental complications can be severe and include unerupted dentition, dentigerous cystlike follicles, malocclusions, condylar defects, and gingival hyperplasia. An 11-year-old boy with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is described in this article, with special emphasis on the oral manifestations.
ISSN:1079-2104
1528-395X
DOI:10.1016/j.tripleo.2005.06.023