Infantile systemic hyalinosis
| Infantile systemic hyalinosis | |
|---|---|
| Other names | Juvenile systemic hyalinosis |
| Infantile systemic hyalinosis is inherited in an autosomal recessive manner. | |
| Specialty | Dermatology, medical genetics |
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
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". Clinical and Experimental Dermatology. 40 (6): 636–639. doi:10.1111/ced.12616. PMID 25754064.