Hyaluronidase deficiency

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 that 1 in 1,000,000

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

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 generalised cutaneous swelling
  • Frequent episodes of otitis media.
  • Short stature.
  • Mildy dysmorphic facial features such as a flattened nasal bridge, bifid 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".
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