Infantile systemic hyalinosis

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 edit

This disease is caused by mutations in the CMG2 gene (ANTXR2).^[2]

Diagnosis edit

Management edit

References edit

^ 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.

External links edit

GeneReview/NIH/UW entry on Hyalinosis, Inherited Systemic

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

[Vahidnezhad2015-2] 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.

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