Infantile systemic hyalinosis

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

Infantile systemic hyalinosis
Other namesJuvenile systemic hyalinosis
Infantile systemic hyalinosis is inherited in an autosomal recessive manner.
SpecialtyDermatology, medical genetics Edit this on Wikidata

Genetics

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

Diagnosis

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
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.