Keratosis, Focal Palmoplantar And Gingival

Gorlin (1976) described an autosomal dominant syndrome, which he termed 'focal palmoplantar and marginal gingival hyperkeratosis,' in which there is hyperkeratosis of the soles that is most marked over the weight-bearing areas and hyperkeratosis of the palms that he suggested might be trauma-related. There is hyperhidrosis of the hyperkeratotic areas, the latter appearing around puberty in most patients, although early changes may be noted in childhood. Hyperkeratosis involving the labial- and lingual-attached gingiva is also seen. Occurrence through several generations with male-to-male transmission was observed by Fred et al. (1964), Raphael et al. (1968), James and Beggs (1973), and Gorlin (1976).

Laskaris et al. (1980) reported a family and showed that other (nonmarginal) areas of the oral mucosa are affected. The most marked hyperkeratosis occurred on the weight-bearing areas of the soles and the pressure-related areas of the palms. Changes appeared in early childhood and progressed. Male-to-male transmission was observed. Laskaris et al. (1980) reviewed other reports and the differential diagnosis.

Young et al. (1982) reported a father and daughter who developed thickened, painful soles at 18 and 13 years of age, respectively. Hyperkeratosis of the hands was limited to the fingertips in the daughter; the father had mild thickening of the fingertips and moderate calluses on the palmar surfaces. Both had follicular keratosis, particularly of the sebaceous areas of the face, and hair and nails were normal except for thickening of the 2 outermost toenails in the daughter. The father had well-defined, finely papillated, painless leukokeratosis in the regions of the attached gingiva and hard palate with sparing of the free gingiva, whereas the daughter had mild leukokeratosis on the masticatory and superior lingual mucosae with white patches on the retromolar pads. Her 2 brothers, aged 11 and 12, had follicular keratosis of the sebaceous areas of the face and slight whitening of the mucosa of the retromolar pads but no palmar or plantar hyperkeratosis. Previously unreported paranuclear bodies were identified in the keratinocytes of the spinous and granular cell layers of the finely papillated gingival epithelium of the father; similar paranuclear bodies were found in cytologic smears from the 3 other affected family members. By electron microscopy and histochemistry, Young et al. (1982) characterized the paranuclear bodies as condensations of tonofilaments, and suggested that they might be useful in early diagnosis of this disorder. Young et al. (1982) noted that whereas the patients described by Gorlin (1976) had distinctly focal, discrete calluses on weight- and friction-bearing points of the hands and feet, this family had broad-based calluses of the whole sole, which were identical to those of the patient reported by Raphael et al. (1968).