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Mucopolysaccharidoses Types I-VII Differential Diagnoses

  • Author: Janette Baloghova, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Apr 14, 2016
 
 

Diagnostic Considerations

Other considerations include the following:

  • Hydrocephalus, rachitis, hypothyreosis, chondrodystrophia, and epiphyseal dysplasia (Normal thickening of diaphysis and tubular bones, irregular epiphyses, brachyspondylia, augmentation, and angulation of the spinal vertebrae are present in all these diseases.)
  • Osteogenesis imperfecta
  • Vitamin D–resistant rickets
  • Nephrogenic osteopathy
  • Syphilis connata
  • Spondyloepiphysial dysplasia
  • Metaphysial dysplasia
  • Multiple sulfatase deficiency (MSD)
  • Mucolipidosis I, II, III, and IV

Differential Diagnoses

 
 
Contributor Information and Disclosures
Author

Janette Baloghova, MD, PhD Lecturer, Dermatovenerologist, Medical Faculty, University of PJ Safarik; Department of Dermatovenerology, University Hospital of L Pasteur, Košice, Slovak Republic

Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Zuzana Baranova, MD, PhD Senior Lecturer, Department of Dermatology, University of PJ Safarik at Kosice, Slovak Republic

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Jeffrey J Miller, MD Associate Professor of Dermatology, Pennsylvania State University College of Medicine; Staff Dermatologist, Pennsylvania State Milton S Hershey Medical Center

Jeffrey J Miller, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Society for Investigative Dermatology, Association of Professors of Dermatology, North American Hair Research Society

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Jacek C Szepietowski, MD, PhD Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Received consulting fee from Orfagen for consulting; Received consulting fee from Maruho for consulting; Received consulting fee from Astellas for consulting; Received consulting fee from Abbott for consulting; Received consulting fee from Leo Pharma for consulting; Received consulting fee from Biogenoma for consulting; Received honoraria from Janssen for speaking and teaching; Received honoraria from Medac for speaking and teaching; Received consulting fee from Dignity Sciences for consulting; .

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Alexander Halagovec, MD, PhD, to the development and writing of this article.

References
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An 8-year-old boy with Morquio syndrome and severe kyphoscoliosis. Courtesy of Dennis P. Grogan, MD.
A 7-year-old girl with Morquio syndrome and typical severe genu valgum. Courtesy of Dennis P. Grogan, MD.
Table. Types of Mucopolysaccharidoses and Associated Enzyme Deficiencies
Mucopolysaccharidosis Type Syndrome NameDeficiencyEC Number
MPS type I-HHurler syndromeAlpha-L-iduronidase3.2.1.76
MPS type I-S



(formerly MPS type V)



Scheie syndromeAlpha-L-iduronidaseN/A
MPS type I-H/SHurler-Scheie syndromeAlpha-L-iduronidaseN/A
MPS type II, mildHunter syndrome, mild formL-sulfoiduronate sulfataseN/A
MPS type II, severeHunter syndrome, severe formL-sulfoiduronate sulfatase3.1.6.13
MPS type III-ASanfilippo syndrome type AHeparan sulfate sulfamidase3.1.6.14
MPS type III-BSanfilippo syndrome type BN -acetyl-alpha-D-glucosaminidase3.2.1.50
MPS type III-CSanfilippo syndrome type CAcetyl-coenzyme A (CoA): alpha-glucosamide N -acetyltransferase2.3.1.3
MPS type III-DSanfilippo syndrome type DN -acetyl-alpha-D-glucosamine-6-sulfatase3.1.6.14
MPS type IV-AMorquio syndrome, classic formN -acetylgalactosamine-6-sulfatase (gal-6-sulfatase)3.1.6.4
MPS type IV-BMorquiolike syndromeBeta-galactosidase3.2.1.23
MPS type VIMaroteaux-Lamy syndrome, mild formN -acetylgalactosamine-4-sulfatase (arylsulfatase B)N/A
MPS type VIMaroteaux-Lamy syndrome, severe formN -acetylgalactosamine-4-sulfatase (arylsulfatase B)3.1.6.1
MPS type VIISly syndromeBeta-glucuronidase3.2.1.31
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