HistoryThis section has been translated automatically.
Maroteaux and Lamy, 1966
DefinitionThis section has been translated automatically.
Hereditary mucopolysaccharidosis with growth disturbance, bone dysplasia, joint contractures, corneal clouding, hepatomegaly, mucopolysacchariduria.
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Occurrence/EpidemiologyThis section has been translated automatically.
Panethnic; no sex preference. Incidence (M. Maroteaux-Lamy): 1/ > 200,000 inhabitants/year.
EtiopathogenesisThis section has been translated automatically.
Genetically caused defect of the enzyme N-acetylgalactosamine-4-sulfate sulfatase (arylsulfatase B), which is mapped on the gene locus 5q11-q13 and leads to lysosomal storage of dermatan sulfate in all internal organs and the skin
ManifestationThis section has been translated automatically.
2 to 3 years of age.
Clinical featuresThis section has been translated automatically.
- Integument: Generalized, yellowish-whitish, hard, caked plates, usually from birth. Followed by atrophy and sclerosis of the skin and skin appendages. Often hyperhidrosis or hypertrichosis.
- Extracutaneous manifestations: Multiple bone growth disorders (dysostosis multiplex), dwarfism, corneal opacity, obstructive respiratory diseases, congenital heart defects.
LiteratureThis section has been translated automatically.
- Akhtar S et al (2002) Clinical and morphological features including expression of betaig-h3 and keratan sulphate proteoglycans in Maroteaux-Lamy syndrome type B and in normal cornea. Br J Ophthalmol 86: 147-151
- Crawley AC (1998) Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. J Clin Invest 101: 109-119
- Litjens T et al (2001) Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum Mutate 18: 282-295
- Maroteaux P, Lamy M (1966) La pseudo-polydystrophy de Hurler. La presse médicale (Paris) 74: 2889-2892
- Tobacman JK (2003) Does deficiency of arylsulfatase B have a role in cystic fibrosis? Chest 123: 2130-2139
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Incoming links (1)
Glycosaminoglycans (inci);Outgoing links (3)
Hyperhidrosis (overview); Hypertrichoses; Mucopolysaccharidoses hereditary (overview);Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer