Infantile systemic hyalinosis

Infantile systemic hyalinosis
Classification and external resources
OMIM 228600 236490 608041
GeneReviews

Infantile systemic hyalinosis or juvenile 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.[2]

See also

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. Clin Exp Dermatol doi: 10.1111/ced.12616

External links

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