Focal palmoplantar and gingival hyperkeratosis syndrome: report of a family, with cytologic, ultrastructural, and histochemical findings.
An Australian family in which two members were affected by focal palmoplantar and gingival mucosal hyperkeratosis syndrome is reported. The propositus and his daughter had symptoms which suggested that esophageal lesions might be present. In view of the association of tylosis with esophageal carcinoma in other families, both patients were investigated by barium swallow or endoscopy. No esophageal lesions were found. Previously unreported paranuclear bodies were described in the keratinocytes of the spinous and granular cell layers of the finely papillated gingival epithelium of the propositus. Similar paranuclear bodies, although rare, were identified in cytologic smears from the four members of the family examined, two of whom had slight whitening of the mucosa of the retromolar pads only. By electron microscopy and histochemistry, these bodies were characterized as condensations of tonofilaments and not heteromorphic keratohyalin.
D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009061:Mouth Mucosa / Q000378:metabolism / Q000473:pathology