[Focal palmoplantar and oral mucosa hyperkeratosis syndrome]

Four members of a family in three generations are presented who were affected by a rare syndrome (mucosa hyperkeratosis syndrome). This syndrome is characterized by autosomal-dominant inheritance, white lesions of the gingiva, and palmoplantar hyperkeratosis. The four affected members of the family revealed an abnormal keratinization of the gingiva and palmoplantar epidermis. Biopsies of plantar and gingival lesions histologically showed acanthosis and hyperkeratotic cornification of the epithelium. Electron microscopy demonstrated the features of epidermolytic hyperkeratosis.

From the differential diagnostic point of view, the mucosa hyperkeratosis syndrome has to be distinguished from the Jadassohn-Lewandowsky syndrome and the Howel-Evans' syndrome, which is associated with esophageal carcinoma.