Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a very rare genetic disorder of the skin, hair and nails. The skin is fragile and blisters or erodes after injuries too slight to harm normal skin. The hair is woolly and accompanied by alopecia, the nails are dysplastic, and the palms and soles develop thickened skin (palmoplantar keratoderma), either widespread or in patches, that can split into painful fissures. Study of the only two patients described, from two unrelated families, showed the disorder results from homozygous or compound heterozygous mutations in the desmoplakin gene on chromosome 6. It was first reported in 2002 by Whittock and colleagues. Because only two cases have appeared in the medical literature, little else is established about its course or treatment.