Medicine:Infantile systemic hyalinosis
From HandWiki
| Infantile systemic hyalinosis | |
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| Other names | Juvenile systemic hyalinosis |
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| Infantile systemic hyalinosis is inherited in an autosomal recessive manner. | |
Infantile systemic hyalinosis is an allelic autosomal-recessive condition characterized by multiple skin nodules, hyaline deposition, gingival hypertrophy, osteolytic bone lesions and joint contractures.[1]:606
Genetics
This disease is caused by mutations in the CMG2 gene (ANTXR2).[2]
Diagnosis
Management
See also
- Skin lesion
- List of cutaneous conditions
References
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN:0-7216-2921-0.
- ↑ "Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene". Clinical and Experimental Dermatology 40 (6): 636-639. 2015. doi:10.1111/ced.12616. PMID 25754064.
External links
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| External resources |
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