Hyaluronidase deficiency

Hyaluronidase deficiency is a condition caused by mutations in the HYAL1 gene, and is characterized by multiple soft-tissue masses.[1]:544

Hyaluronidase deficiency
Other namesMucopolysaccharidosis type IX
SpecialtyDermatology
Symptomsshort stature, mildly dysmorphic facial features, soft tissue masses, knee and hip pain
Usual onsetChildhood
CausesDeficiency of the enzyme hyaluronidase
Frequencyless than 1 in 1,000,000

Signs and symptoms

As hyaluronidase deficiency is an extremely rare disorder, a clear clinical picture of the disease has not been formed. However, the following symptoms may occur:[2]

  • Multiple soft tissue masses which may experience temporary episodes of painful swelling.
  • Temporary episodes of generalized cutaneous swelling.
  • Frequent episodes of otitis media.
  • Short stature.
  • Mildy dysmorphic facial features such as a flattened nasal bridge, a bifid (split) uvula, and a submucosal cleft palate.
  • Joint movement and intellectual ability are unaffected.[3]

See also

References

  1. James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  2. "Mucopolysaccharidosis".
  3. "MUCOPOLYSACCHARIDOSIS, TYPE IX;MPS9".

Further reading

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