The clinical features reported below are based on report of 4 patients from 2 families.
Skin, hair, and nails:
• Erythrokeratoderma
• Palmoplantar hyperkeratosis
• Red, rough, thick skin
• Hyperpigmented lichenified patches on the dorsum of hands and feet
• Erythematous annular scaly (or polycystic) plaques
• Symmetric brownish annular hyperkeratotic plaques (e.g. on shoulders, axillae, inguinal area)
• Brownish hyperpigmented (proinflammatory) patches
Other uncommon features:
• Dystrophic nailbeds
• Anhidrosis
• Woolly hair
• Dental enamel defects
PERP recessive