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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-12-2015
Symbol FPH2
Location 12q21.32
Name familial progressive hyperpigmentation 2
Other name(s) familial progressive hyperpigmentation with or without hypopigmentation
Corresponding gene KITLG
Other symbol(s) FPHH
Main clinical features
  • hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age
  • diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules, involving the face, neck, trunk, and limbs, are seen at birth or develop early in infancy
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Remark(s) caused by the KITLG N36S mutation, which has a gain-of-function effect on the melanin synthesis (Wang 2009)