Pfaundler-hurler disease E76.0

Hurler, 1919; Pfaundler, 1920

Hereditary mucopolysaccharidosis inherited through a defect of the enzyme α-iduronidase.

• Incidence (all mucopolysaccharidoses): 3-4/100,000 inhabitants/year.
• Incidence (Pfaundler-Hurler disease): about 1/100,000 inhabitants/year.

Autosomal recessive mutations of the α-iduronidase gene (gene locus: 4p16.3). Due to the α-iduronidase defect, dermatan sulphate (= chondroitin sulphate B) and heparan sulphate are deposited lysosomally in the skin and in internal organs.

First year of life.

• Integument: Hypertrichosis on the face, deep set hair on the head, bushy prominent eyebrows, occasional hirsutism and acne.
• Extracutaneous manifestations: growth disorders, joint contractures, bone dysplasia, gargoylism, corneal opacities and hepatomegaly.

Symptomatic therapy of the cutaneous symptomatology. If necessary, long-term substitution with laronidase (e.g. Aldurazyme, available from international pharmacies) for the treatment of non-neurological symptoms.

1. Hurler G (1919) About a type of multiple varieties, mainly on the skeletal system. Z Pediatrics (Berlin) 24: 220-234
2. Kakavanos R et al (2003) Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. Lancet 361: 1608-1613
3. Kakkis ED et al (2001) Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 344: 182-188
4. Pfaundler M (1920) Demonstrations on a type of childhood dysostosis. Yearbook for pediatrics and physical education (Berlin) 92: 420