Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
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
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)