Infantile systemic hyalinosis

Classification	D OMIM: 228600 608041; MeSH: D057770;
External resources	GeneReviews: Hyalinosis, Inherited Systemic;

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

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

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. Clin Exp Dermatol doi: 10.1111/ced.12616

Classification	D OMIM: 228600 608041 MeSH: D057770
External resources	GeneReviews: Hyalinosis, Inherited Systemic