Hyaluronidase deficiency explained

Synonyms:	Mucopolysaccharidosis type IX
Field:	dermatology
Symptoms:	short stature, mildly dysmorphic facial features, soft tissue masses, knee and hip pain
Onset:	Childhood
Causes:	Deficiency of the enzyme hyaluronidase
Frequency:	less than 1 in 1,000,000

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

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

• Morquio syndrome
• Hunter syndrome
  • Hurler syndrome Skin lesion

Further reading

• Clinical and Biochemical Manifestations of Hyaluronidase Deficiency
• Macon Meereskosmetik (in German)
• Hyaluronidase deficiency

Notes and References

1. Book: James, William D. . Berger, Timothy G. . Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier . 2006 . 978-0-7216-2921-6 . etal.
2. Web site: Mucopolysaccharidosis.
3. Web site: MUCOPOLYSACCHARIDOSIS, TYPE IX;MPS9.