Infantile systemic hyalinosis
| Infantile systemic hyalinosis | |
|---|---|
| Classification and external resources | |
| OMIM | 228600 236490 608041 |
| GeneReviews | |
Infantile systemic hyalinosis or juvenile 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.[2]
See also
References
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ Vahidnezhad H, Ziaee V, Youssefian L, Li Q, Sotoudeh S, Uitto J (2015) Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene. Clin Exp Dermatol doi: 10.1111/ced.12616
External links
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