Lipoid proteinosis is a rare autosomal recessive disorder characterized by the deposition of an eosinophilic hyaline-like material in the skin, larynx, mucous membranes, brain and other internal organs. Presentation with hoarseness in infancy is typical. The disease progresses with skin and mucous membrane changes. When the central nervous system is involved neurological symptoms may occur.
Life expectancy is normal and there is no effective treatment.
Lipoid proteinosis is inherited in an autosomal recessive pattern. Heterozygotes have a normal phenotype. It has been suggested that they may have a subtle abnormal dentition. The pathogenesis is unknown. An eosinophilic hyaline material is deposited in all affected organs, although it is unknown whether this is a primary or secondary phenomenon.