Misplaced Pages

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.

Genetics

This disease is caused by mutations in the CMG2 gene (ANTXR2).

Diagnosis

This section is empty. You can help by adding to it. (October 2017)

Management

This section is empty. You can help by adding to it. (October 2017)

See also

• Skin lesion
• List of cutaneous conditions

References

1. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
2. 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.

External links

• GeneReview/NIH/UW entry on Hyalinosis, Inherited Systemic

• v
• t
• e

• Dermal and subcutaneous growths
• Congenital disorders of musculoskeletal system
• Autosomal recessive disorders
• Genodermatoses stubs