Clinical features
Mutations in PERP cause a distinctive multiple congenital anomaly syndrome called Erythrokeratodermia variabilis et progressiva 7 (EKVP7; MiM#619209), commonly characterized by erythrokeratoderma, palmoplantar keratoderma (extending to the dorsal surface of the hands and feet), and erythematous annular skin lesions. Pruritis, anhidrosis, woolly hair, and dystrophic nails are other less common findings.
Prevalence
The prevalence of PERP-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
PERP-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.
PERP recessive