Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Lipoid Proteinosis (LP)

Skin lesions DermatologistAssess for hemorrhagic or crusting lesions.
Upper airway OtolaryngologistAssess for airway obstruction assoc w/vocal cord infiltration.
Epilepsy NeurologistIf clinical findings suggest seizures
Neurobehavioral testingAssess for memory impairment, hallucinations, paranoia, & aggressive behavior.
Brain MRIAssess for calcification in temporal lobes in the region of the amygdalae.
By genetics professionals 1To inform patients & families re nature, MOI, & implications of LP in order to facilitate medical & personal decision making
Family support
& resources

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Lipoid Proteinosis

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source ( and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.