The clinical features reported below are based on report of 4 patients from 2 families
Skin, hair, and nails:
• Erythrokeratoderma (well-demarcated plaques of reddened, thickened, dry skin)
• thickening of the skin on the palms and soles
• Dark, rough patches on the back of hands and feet
• Red or brownish circular scaly plaques
Other uncommon features:
• Misshapen nails
• Lack of ability to sweat
• Woolly hair
• Teeth enamel defects
PERP recessive