Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis typeIIandIII: A systematic review

Abstract

Mucopolysaccharidoses (MPSs) and mucolipidosis II and III (ML II and III) often manifest with orofacial (progressive) abnormalities, which may have a major impact on quality of life. However, because these patients have multiple somatic health issues, orofacial problems are easily overlooked in clinical practice and available literature on this topic solely consists of case reports, small case series, and small cohort studies. The aim of this systematic review was to gain more insight in the nature and extent of orofacial abnormalities in MPS, ML II, and III. A systematic review of all previously published articles addressing orofacial abnormalities in MPS, ML II, and III was performed. Both clinical studies and case reports were included. Outcome was the described orofacial abnormalities, subdivided into abnormalities of the face, maxilla, mandible, soft tissues, teeth, and occlusion. The search resulted in 57 articles, describing orofacial features in 340 patients. Orofacial abnormalities were present in all subtypes of MPS, ML II, and III, and consisted of thickened lips, a hypoplastic midface, a high‐arched palate, hypoplastic condyles, coronoid hyperplasia, macroglossia, gingival hyperplasia, thick dental follicles, dentigerous cysts, misshapen teeth, enamel defects, and open bite. Orofacial abnormalities are present in all subtypes of MPS, ML II, and III. As orofacial abnormalities may cause complaints, evaluation of orofacial health should be part of routine clinical care.

Developmental odontogenic cysts with special focus on the occurrence of multiple cysts: a single-centre retrospective study from the Czech Republic

“…Bilateral or multiple DCs are usually reported to occur predominantly in patients with syndromes associated with impacted teeth or supernumerary teeth [1,[3][4][5]14]. While this seems to be true for MPS [7][8][9][10], we have not found any literature on the prevalence of multiple DCs in the other syndromes associated with these cysts, such as cleidocranial dysplasia, or Gardner syndrome. A radiographic study of 40 patients with cleidocranial dysplasia did not describe this feature on panoramic X-rays [41].…”

“…In general, multiple DOCs in the same patient not associated with a syndrome or systemic condition are considered rare or even extremely rare [2][3][4][5]. Multiple DCs are reported to usually arise as a part of clinical manifestations of syndromes such as mucopolysaccharidoses (MPS, Hurler syndrome, Hunter syndrome, Morquio syndrome, Maroteaux-Lamy syndrome) [6][7][8][9][10][11], cleidocranial dysplasia [12], Gardner syndrome [13] or Klippel Feil syndrome [14]. Also, bilateral DCs were observed in two patients with achondroplasia [15,16].…”

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients

“…In fact, some of the most common and obvious orofacial abnormalities in MPS patients are maxillomandibular abnormalities. GAG accumulation in soft tissues, cartilage, and bones and secondary cellular responses to accumulated GAGs are probably the culprit for abnormalities in orofacial soft tissues, orofacial bones, and teeth [ 60 ]. That is why MPS patients are frequently subjected to tooth-removal surgeries, among other orofacial interventions.…”

Modelling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidoses Type II Patients

“…In fact, amongst some of the most common and obvious orofacial abnormalities in MPS patients, are maxillomandibular abnormalities. GAG accumulation in soft tissues, cartilage, and bones and secondary cellular responses to accumulated GAGs are probably the culprit to abnormalities in orofacial soft tissues, orofacial bones, and teeth [58]. That is why MPS patients are frequently subjected to teeth removal surgeries, among other orofacial interventions.…”