Lipoid proteinosis

Definition:

Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and internal organs. Infantile hoarseness is a common presenting feature of the disease due to infiltration of larynx. In two-thirds of the cases, voice changes are present at birth or in early infancy as the first manifestation. The disorder has been shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene. The function of the protein extracellular matrix protein 1 gene is still unclear.

References:

[1]. Aydin Acar, et al. Lipoid proteinosis of larynx: review of four cases. Int J Pediatr Otorhinolaryngol. 2004 Dec;68(12):1557-61. [Content Brief]

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