Hunter's disease E76.1

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 19.09.2023

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Synonym(s)

Hunter's disease; Hunter Syndrome

History
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Hunter, 1917

Definition
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Type II of hereditary mucopolysaccharidoses in case of iduronate sulphate sulphatase defect.

Occurrence/Epidemiology
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Incidence: 0.5-1/100,000 men/year.

Etiopathogenesis
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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 features
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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.

Literature
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  1. Froissart R et al (2002) Mucopolysaccharidosis type II--genotype/phenotype aspects. Acta Paediatr Suppl 91: 82-87
  2. Hunter CA (1917) A rare disease in two brothers. Proceedings of the Royal Society of Medicine (London) 10: 104-116
  3. 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
  4. Ochiai T et al (2003) Significance of extensive Mongolian spots in Hunter's syndrome. Br J Dermatol 148: 1173-1178
  5. 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

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Last updated on: 19.09.2023