Skip to main content
. Author manuscript; available in PMC: 2008 Dec 17.
Published in final edited form as: Adv Dermatol. 2007;23:231–256. doi: 10.1016/j.yadr.2007.07.011

Table 3.

Function-Driven Model of Generalized Disorders of Cornification: Defects of the Corneocyte Proteins

Disorder 1° Defect Downstream effect SC Function Homeostatic response
TGM1-def. ARCI & Loricrin K. Fragile cornified envelope Abnormal scaffold for lamellar membranes ↑↑ TEWL ↑↑ Epidermal hyperplasia
Epidermolytic HK Disrupted keratin Impaired lamellar body secretion ↑↑ TEWL ↑↑ Epidermal hyperplasia
↓↓ CD digestion ↓↓ Desquamation
Ichyosis vulgaris ↓ Filaggrin ↓↓ Corneocyte hydration ↓↓ Hydration ↓ Desquamation
↑ SC pH (?)
Netherton syndrome Disrupted corneocyte adhesion Abnormal scaffold ↑↑ CD digestion Epidermal hyperplasia ↑↑ Desquamation