Table 1.

Pathogenic mechanisms and potentially diagnostic features in disorders of distal cholesterol metabolism

Disorders	Keratohyalin/Keratins	Lamellar body formation/Contents	Lamellar body exocytosis	Post-secretary lipid processing	Lamellar bilayers	Cornified envelopes	Corneodesmosomes	Corneocyte lipid envelope
Cholesterol and Isoprenoid Metabolism
CHH/CHILD7,29	Normal/Normal	Abnormal contents	Impaired	Delayed	L/Non-L-PS	Normal	Normal	Normal
XLI17	Normal/Normal	Normal	Normal	Normal	L/Non-L-PS	Normal	Persist	Normal

*Bolded and italicized features are particularly helpful in differential diagnosis.