Hunter's diseaseE76.1
Synonym(s)
HistoryThis section has been translated automatically.
Hunter, 1917
DefinitionThis section has been translated automatically.
Occurrence/EpidemiologyThis section has been translated automatically.
EtiopathogenesisThis section has been translated automatically.
X-linked (recessive) inherited mutations of the iduronidase sulfatase gene (gene locus: Xq28). Due to the iduronidase sulfatase defect, the L-iduronic acid-containing mucopolysaccharides dermatan sulfate and heparan sulfate cannot be degraded or only insufficiently. They are deposited in the skin and in internal organs.
Clinical featuresThis section has been translated automatically.
Integument: Generalized, yellowish-whitish, hard plates caked to the base, usually from birth. Subsequent atrophy and sclerosis of the skin and skin appendages. Frequent pebble-like raised skin texture, acrocyanosis, hyperhidrosis pedum et manuum or hypertrichosis. In some cases, image of Becker nevus with dorsal or ventral distribution on the trunk.
Extracutaneous manifestations: dwarfism with dysostotic skeletal changes: coarse facial features, joint contractures, hepatosplenomegaly, mucopolysacchariduria. No corneal opacities. Cardiovascular symptoms are less frequent than in Pfaundler-Hurler disease.
LiteratureThis section has been translated automatically.
- Froissart R et al (2002) Mucopolysaccharidosis type II--genotype/phenotype aspects. Acta Paediatr Suppl 91: 82-87
- Hunter CA (1917) A rare disease in two brothers. Proceedings of the Royal Society of Medicine (London) 10: 104-116
- Keulemans JL et al (2002) Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay. Prenate Diagn 22: 1016-1021
- Ochiai T et al (2003) Significance of extensive Mongolian spots in Hunter's syndrome. Br J Dermatol 148: 1173-1178
- Tomanin R et al (2002) Non-viral transfer approaches for the gene therapy of mucopolysaccharidosis type II (Hunter syndrome). Acta Paediatr Suppl 91: 100-104