A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

Synonyms: Familial amyloidosis, Finnish type Gelsolin amyloidosis Familial amyloid polyneuropathy type IV Hereditary amyloidosis, Finnish type

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Term information

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UMLS:C0936273

OMIM:105120

ICD-10:E85.1

notation

ORPHA:85448