Infantile systemic hyalinosis

(Redirected from 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

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

Diagnosis

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Management

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See also

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References

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  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". Clinical and Experimental Dermatology. 40 (6): 636–639. doi:10.1111/ced.12616. PMID 25754064.
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