Hyaluronidase deficiency
Medical condition
From Wikipedia, the free encyclopedia
Hyaluronidase deficiency, also known as Mucopolysaccharidosis type IX or MPS IX, 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
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]
Diagnosis
It is diagnosed through a combination of a thorough clinical evaluation in which characteristic findings are identified, specialized tests that can detect things like excessive levels of mucopolysaccharides and enzym essays to see if there is a deficiency in the enzyme hyaluronidase.[4]
Treatment
At the moment, there are no effective treatments against hyaluronidase deficiency. The only treatment possible is symptomatic and meant to manage and alleviate individual symptoms.[5]