Focal palmoplantar and oral mucosa hyperkeratosis syndrome: a report concerning five members of a family.
Focal palmoplantar and oral mucosa hyperkeratosis is a rare inherited disease that is transmitted as an autosomal dominant trait. Five affected members of a Greek family are described. All affected members of this family had hyperkeratosis of the palms, soles and attached gingiva. In addition, less severe hyperkeratosis was observed in areas of the oral mucosa subject to pressure and friction (palate, lateral border of the tongue, and retromolar pad). On histologic examination of biopsy material from the gingiva and the soles, severe hyperkeratosis and acanthosis were noted. Because hyperkeratotic lesions were located in areas of the oral mucosa in addition to the attached gingiva, the name Focal palmoplantar and oral mucosa hyperkeratosis syndrome is proposed.
D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009059:Mouth Diseases / Q000473:pathology*; D009061:Mouth Mucosa / Q000473:pathology