Table 3. [Genes and Disorders of Interest in the Differential Diagnosis of Lipoid Proteinosis]. - GeneReviews®

Gene	Disorder	MOI	Overlapping Features	Distinguishing Features
ABCC6	Pseudoxanthoma elasticum (PXE)	AR	Some 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)	AR	The 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.

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