Infantile systemic hyalinosis explained
| Infantile systemic hyalinosis |
| Synonyms: | Juvenile systemic hyalinosis |
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]
Genetics
This disease is caused by mutations in the CMG2 gene (ANTXR2).[2]
See also
External links
Notes and References
- James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. .
- 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. Clinical and Experimental Dermatology. 10.1111/ced.12616. 25754064. 40. 6. 636-639.
