Medicine:Hyaluronidase deficiency
From HandWiki
| Hyaluronidase deficiency | |
|---|---|
| Other names | Mucopolysaccharidosis type IX |
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| 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 the HYAL1 gene, and is 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 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
References
- ↑ James, William D. et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
- ↑ "Mucopolysaccharidosis". https://rarediseases.org/rare-diseases/mucopolysaccharidoses/.
- ↑ "MUCOPOLYSACCHARIDOSIS, TYPE IX;MPS9". https://omim.org/entry/601492.
External links
| Classification | |
|---|---|
| External resources |
Further reading
- Clinical and Biochemical Manifestations of Hyaluronidase Deficiency
- Macon Meereskosmetik (in German)
- Hyaluronidase deficiency
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