Infantile systemic hyalinosis | |
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Other names | Juvenile systemic hyalinosis |
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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
This disease is caused by mutations in the CMG2 gene (ANTXR2).[2]