Hunter's disease E76.1

Hunter, 1917

Type II of hereditary mucopolysaccharidoses with iduronate sulfate sulfatase defect (mutation in the IDS gene).

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.

Integument: Generalized, yellowish-whitish, hard plates caked to the base, usually from birth. Subsequent atrophy and sclerosis of the skin and skin appendages. Frequently pebble-like raised skin texture, acrocyanosis, hyperhidrosis pedum et manuum or hypertrichosis.

In some cases, image of Becker nevus with dorsal(Mongolian spot) 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.

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. Prenat 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. Sofronova V et al. (2023) A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines. Int J Mol Sci 24:5647.
6. 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
7. Zhang Z et al.(2023) Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type
8. II: A single-center retrospective study in China. Front Genet 14:1103620.
9.