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 names | Mucopolysaccharidosis type IX |
 | |
| Specialty | Dermatology |
| Symptoms | short stature, mildly dysmorphic facial features, soft tissue masses, knee and hip pain |
| Usual onset | Childhood |
| Causes | Deficiency of the enzyme hyaluronidase |
| Frequency | less than 1 in 1,000,000 |
Signs and symptoms
editAs 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]
Diagnosis
editThis section is empty. You can help by adding to it. (December 2024) |
Treatment
editThis section is empty. You can help by adding to it. (December 2024) |
See also
editReferences
edit- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
- ^ "Mucopolysaccharidosis".
- ^ "MUCOPOLYSACCHARIDOSIS, TYPE IX;MPS9".