Molecular Characteristics: p53 apoptosis effector related to PMP22 (PERP) gene encodes a p53/p63 membrane protein that functions as an apoptosis mediator transcription factor and as a component of desmosomes.
Mutations and pathophysiology
PERP is located at 6q23.3. Mouse knockout models for PERP surprisingly no change in risk of malignancy development but did show marked abnormalities of the skin, hair, and nails, with phenotypical features such as thickened and inflamed skin, swollen blistered feet, and abnormal fur and nails. These findings may be explained by the important function PERP plays in encoding a component of the desmosomes.
Patel et al. (2020) reported a biallelic pathogenic variant in PERP [NM_022121.4:c.466G>A; p.(Gly156Arg)] leading to Erythrokeratodermia variabilis et progressiva 7 in 2 sisters and their affected male cousin from a consanguinous Saudi family.
Histological analysis of affected skin may show:
• Acanthosis
• Hyperkeratotis
• Parakeratosis
• Increased number of mast cells in the dermis
PERP recessive