Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with Lipoid Proteinosis (LP)]. - GeneReviews®

System/Concern	Evaluation	Comment
Skin lesions	Dermatologist	Assess for hemorrhagic or crusting lesions.
Upper airway	Otolaryngologist	Assess for airway obstruction assoc w/vocal cord infiltration.
Epilepsy	Neurologist	If clinical findings suggest seizures
Neuropsychiatric disorders	Neurobehavioral testing	Assess for memory impairment, hallucinations, paranoia, & aggressive behavior.
Brain MRI	Assess for calcification in temporal lobes in the region of the amygdalae.
Genetic counseling	By genetics professionals ¹	To inform patients & families re nature, MOI, & implications of LP in order to facilitate medical & personal decision making
Family support & resources	Assess: Use of community or online resources such as Parent to Parent; Need for social work involvement for parental support; Need for home nursing referral.

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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