Keratoderma and spastic paralysis

SUMMARY Punctate keratoderma and spastic paralysis occurred in three generations of a family. Several members had keratoderma of the palms and soles or spastic paralysis or both. The family history was consistent with autosomal‐dominant inheritance. The age at onset and the rate of progression of symptoms were variable. The concurrence of these lesions can be interpreted to mean either that the keratoderma and the paraplegia are the pleiotropic effects of the same mutant gene or, less likely, that they are the manifestations of two different autosomal mutations segregating in this family. We are not aware of a similar syndrome having been previously reported. Hereditary keratoderma is classified according to the mode of inheritance (dominant or recessive) and the pattern of involvement (focal, diffuse, or mutilating). Certain well‐recognized clinical syndromes are associated with palmoplantar keratoderma, including mal de Meleda (with lesions on the dorsum of the hands and feet, legs, forearm, axilla, and trunk), Papillon‐Lefevre syndrome (with periodontal involvement, premature loss of teeth, and psoriasiform lesions on the knees), and Richner‐Hanhart syndrome (associated with corneal dystrophy, osseous changes, and mental deficiency). Several miscellaneous syndromes also have been reported in association with hereditary keratoderma, usually in single families, and these syndromes probably are the pleiotropic effects of very rare or even ‘private’ mutations or the chance association of more than one genetic mutation. We describe a family of Norwegian origin which had focal punctate palmoplantar keratoderma associated with spastic paralysis mainly of the lower limbs. These appeared in three generations, with variable expression in some family members