Hyalinosis (definition)

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ψ	Hyalinosis, Systemic

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Definition: Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. It is comprised of two allelic disorders: infantile systemic hyalinosis and juvenile hyaline fibromatosis. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.

do not confuse entry term INFANTILE SYSTEMIC HYALINOSIS with HYALINE MEMBRANE DISEASE
See Also Hyaline Membrane Disease; Lipoid Proteinosis of Urbach and Wiethe

Other names Infantile Systemic Hyalinoses; Hyalinosis, Infantile Systemic; Hyalinoses, Systemic; Hyalinoses, Infantile Systemic; Hyaline Fibromatosis, Juvenile; Hyaline Fibromatosis Syndromes; Fibromatosis, Juvenile Hyaline; Fibromatosis Syndromes, Hyaline; Fibromatosis Syndrome, Hyaline; Systemic Hyalinosis; Juvenile Hyaline Fibromatosis; Infantile Systemic Hyalinosis; Hyaline Fibromatosis Syndrome; Hyaline Fibromatosis Juvenile; Fibromatosis Hyalinica Multiplex Juvenilis; Fibromatosis Juvenile Hyaline; Systemic Hyalinosis, Infantile; Systemic Hyalinoses, Infantile; Systemic Hyalinoses; Syndromes, Hyaline Fibromatosis

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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Hyalinosis, Systemic