Skin fragility-woolly hair-palmoplantar keratoderma syndrome

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Skin fragility-woolly hair-palmoplantar keratoderma syndrome is an extremely rare genetic disorder. In affected people, the skin is very fragile and can blister or erode after minor injuries. They may have woolly hair with hair loss, nail abnormalities, and thick, painful patches on the palms and soles (palmoplantar keratoderma). So far, only two cases in two families have been described in medical literature. The condition is caused by mutations in both copies of the desmoplakin gene on chromosome 6. It was first described in 2002 by Whittock and colleagues.