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 

Genetics

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

Diagnosis

Management
gollark: Doesn't that mean that your thing might end up seeing some data twice? Unless you shuffle it once and split it into chunks or something.
gollark: Maybe they fixed the routers in *one* place.
gollark: Not for me.
gollark: By the way, I totally didn't engineer this conversation to obtain everyone's PINs.
gollark: Mine is very advanced and has 16.

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. Clin Exp Dermatol doi: 10.1111/ced.12616
Classification
External resources
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.