Orofacial features of Scheie (Hurler-Scheie) syndrome (α-L-iduronidase deficiency)

doi:10.1016/0030-4220(90)90181-Q

Oral Surgery, Oral Medicine, Oral Pathology

Volume 70, Issue 1, July 1990, Pages 70-74

Oral Surgery, Oral M...

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Abstract

Scheie syndrome is a rare inborn error of metabolism, a mucopolysaccharidosis in which deficiency of the lysosomal enzyme α-L-iduronidase leads to tissue accumulation of mucopolysaccharides. Scheie syndrome is a forme fruste of Hurler syndrome (gargoylism), and some patients have the phenotype of Hurler-Scheie compound syndrome. The craniofacial abnormalities include coarse facies, mandibular condylar hypoplasia, retarded tooth eruption, and cystic jaw radiolucencies—particularly about the molars. Corneal clouding may lead to blindness but, in contrast to some other mucopolysaccharidoses, mental handicap is rare in Scheie syndrome. Cardiac valve incompetence is common, as are recurrent respiratory infections. Two brothers with Hurler-Scheie syndrome are presented and the oral and systemic complications each patient had described. The syndrome is discussed with particular reference to the orofacial features.

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There are more references available in the full text version of this article.

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The mucopolysaccharidoses (MPSs) are inherited disorders of the metabolism of the glycosaminoglycans (GAGs), caused by the deficiency of enzymes involved in the stepwise degradation of these compounds. Being the GAGs a major component of the extracellular matrix of the connective tissue, its storage leads to a multisystem disorder. Eleven subtypes of MPS have been described so far, being all chronic and progressive, having a wide range of clinical manifestations and a broad spectrum of severity in each type. The disease generally presents in one of the three ways depending on the specific enzyme that is defective: (1) A dysmorphic syndrome (e.g., MPS types I, II, VI, or VII); (2) behavioral disturbances, neurodegeneration, and dementia (MPS III); (3) a severe bone dysplasia (MPS IV). In most cases, diagnosis initially depends on clinical suspicion, followed by demonstration of increased levels and/or abnormal pattern of GAGs in urine. The clinical picture combined with the pattern of urinary GAG excretion usually guides the laboratory to define which specific enzymes should be analyzed in order to identify the deficiency and elucidate the diagnosis. Mutation analyses are recommended to pinpoint the specific genetic defects causing the disorder. Although no cure exists for the MPSs, several treatment approaches are available or under investigation. Management is multidisciplinary and includes palliative care, surgeries, cell-based therapy (bone marrow or umbilical cord blood transplantation) and enzyme replacement therapy (ERT). Manifestations involving the skeleton and particularly the central nervous system (CNS) are the most challenging to treat, but newer therapeutic approaches (e.g., substrate reduction, Trojan horse ERT, intrathecal (IT)/ intracerebroventricular ERT, stop codon read-through, gene therapy, gene editing, etc.) are in development and may change the outcome of these disorders in a near future. Carrier identification and prenatal diagnosis are available for all of these disorders, and newborn screening (NBS) is already being conducted as part of regular programs for MPS I and MPS II in some places, and is under investigation for other treatable MPSs.
Mucopolysaccharidoses
2013, Emery and Rimoin's Principles and Practice of Medical Genetics
Mucopolysaccharidosis type I (Hurler syndrome): oral and radiographic findings and ultrastructural/chemical features of enamel and dentin
2008, Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology
Mucopolysaccharidosis type I (Hurler syndrome, MPS I-H) is an autosomal recessive inborn error of metabolism due to deficient α-L-iduronidase enzyme activity and is characterized by accumulation of incompletely degraded glycosaminoglycans that generally lead to impairment of organ and body functions. This report presents oral, dental, and radiographic findings in a boy who presented with MPS I-H. Nine of the patient’s primary teeth were extracted and investigated using scanning electron microscopy, x-ray diffraction analysis, and Fourier transform infrared spectroscopy. Compared with the teeth of otherwise healthy patients, MPS I-H–affected dentin was characterized by extremely narrow dentinal tubules, whose direction followed an irregular wave-like pattern. The enamel-dentin junction was defective, as evidenced by microgaps, and the enamel displayed irregular arrangement of prisms. The additional novel observation was made that the protein structure of enamel and dentin changed in MPS I-H–affected teeth. Also, an increase was observed in the relative mineral/matrix ratio of MPS I-H–affected dentin, indicating that its protein content had decreased in comparison with normal dentin.
The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): A case report
2006, Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology
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.
Endoscopic adenoidectomy in a case of Scheie syndrome (MPS I S)
1998, International Journal of Pediatric Otorhinolaryngology
The mucopolysaccharidoses (MPS) are a heterogenous group of relatively rare, progressive, inherited lysosomal storage disorders, characterized by a deficiency of lysosomal enzymes which are responsible for the stepwise degradation of glycosaminoglycans. Their deficiency leads to the accumulation of glycosaminoglycans in various organs causing progressive disruption of cellular functions and multiple systemic effects including otolaryngological problems, upper airway obstructive disease being the most common. Scheie syndrome (MPS I S) is due to the deficient activity of α-l-iduronidase leading to the intralysosomal accumulation of dermatan sulfate and heparan sulfate. We present our experience in one such case occuring in a 6-year-old girl with ENT manifestations and who underwent a successful endoscopic adenoidectomy for symptomatic adenoid hypertrophy. This procedure was preferred over a conventional adenoidectomy in order to avoid complications associated with abnormal cervical vertebrae.
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2023, International Journal of Molecular Sciences

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Orofacial features of Scheie (Hurler-Scheie) syndrome (α-L-iduronidase deficiency)

Abstract

Oral Surg Oral Med Oral Pathol

The defect in the Hurler and Scheie syndromes: deficiency of α-L-iduronidase

Scheie and Hurler syndromes: apparent identity of the biochemical effect

Science

A newly recognized forme fruste of Hurler's disease (gargoylism)

Am J Ophthalmol

Clinical definition of the Hurler-Hunter phenotypes

Am J Dis Child