Hyaluronidase deficiency
Подписчиков: 0, рейтинг: 0
| 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 |
Hyaluronidase deficiency is a condition caused by mutations in HYAL1, and characterized by multiple soft-tissue masses.
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:
- 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.
See also
External links
Further reading
- Clinical and Biochemical Manifestations of Hyaluronidase Deficiency
- Macon Meereskosmetik (in German)
- Hyaluronidase deficiency
| Catabolism | |
|---|---|