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Infantile systemic hyalinosis
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Infantile systemic hyalinosis

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Infantile systemic hyalinosis
Other names Juvenile systemic hyalinosis
Autosomal recessive - en.svg
Infantile systemic hyalinosis is inherited in an autosomal recessive manner.
Specialty Dermatology, medical genetics Edit this on Wikidata

Infantile systemic hyalinosis is an allelic autosomal-recessive condition characterized by multiple skin nodules, hyaline deposition, gingival hypertrophy, osteolytic bone lesions and joint contractures.

Genetics

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

Diagnosis

Management

See also

External links


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