Table 3.

Genes and Disorders of Interest in the Differential Diagnosis of Lipoid Proteinosis

GeneDisorderMOIOverlapping FeaturesDistinguishing Features
ABCC6 Pseudoxanthoma elasticum (PXE)ARSome skin changes in LP (e.g., yellowish papules seen on the neck) are reminiscent of those in PXE.Ocular manifestations are different:
  • LP is characterized by moniliform blepharosis.
  • PXE is characterized by subretinal neovascularization w/hemorrhage that can cause significant visual impairment.
FECH Autosomal recessive erythropoietic protoporphyria (EPP)ARThe early vesicular lesions in LP can resemble those in EPP.
  • Hepatic dysfunction is rare in LP but may occur in 20%-30% of those w/EPP.
  • Hoarseness & moniliform blepharosis (features characteristic of LP) are not found in those w/EPP.

AR = autosomal recessive; LP = lipoid proteinosis; MOI = mode of inheritance

From: Lipoid Proteinosis

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