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Epidermolytic hyperkeratosis is a rare disorder inherited as an autosomal dominant with an incidence estimated at about 1 in 100 000 persons.
The skin is usually normal at birth but occasionally, it may present as a colloidon baby. Onset is between birth and the first 6 months of life. The infant develops attacks of redness, scaling and bullae. Eruptions may be generalised or localised to flexural areas, the face, neck and backs of the hands and feet. In the affected areas, the skin is grossly thickened and hyperkeratotic, with deep ridging. Normal skin appearing in the middle of a hyperkeratotic area is a valuable diagnostic sign. Bacterial cutaneous infection is common.
The condition tends to improve with age and may clear around puberty.
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