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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-03-2020
Symbol FPLCA
Location 5p13.1-q11.2
Name familial primary localized cutaneous amyloidosis
Corresponding gene OSMR
Main clinical features
  • chronic skin itching and deposition of epidermal keratin filament-associated amyloid material in the dermis
  • the skin shows fibrillary degeneration of basal keratinocytes with increased apoptosis, disruption of dermal unmyelinated nerve fibers, and accumulation of melanosomes in dermal macrophages and Schwann cells
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function