Focal palmoplantar and oral mucosa hyperkeratosis syndrome: A report concerning five members of a family

Focal palmoplantar and gingival keratosis: A distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins

“…The definite diagnosis of FPGK could only be made 3 years later, after the patient developed some circumscribed leukoplakic lesions of the attached gingiva. Such circumscribed lesions were also described in other patients of young age, 3,4 whereas all adult patients demonstrated typical continuous leukokeratosis.…”

“…There was no evidence for a male-to-male transmission that was observed in the two families of Gorlin, 1 but not in the other families reported so far. 3,4,6 Three of the 4 affected members of our family presented with circumscribed hyperkeratosis at the weight-bearing soles and continuous leukoplakic The rather mild palmar hyperkeratosis only occurred in adulthood and was clearly related to mechanical work. The adult patients additionally demonstrated slight periungeal keratoses at several toe-and fingernails, but there were no subungeal keratoses, nail changes, hyperhidrosis, or follicular hyperkeratosis as described in some other cases of FPGK.…”

“…The adult patients additionally demonstrated slight periungeal keratoses at several toe-and fingernails, but there were no subungeal keratoses, nail changes, hyperhidrosis, or follicular hyperkeratosis as described in some other cases of FPGK. [1][2][3][4] The fourth patient was a 6-year-old girl who showed slight and painful hyperkeratosis at the weight-bearing plantar skin, but no lesions of the oral mucosa at first examination. The definite diagnosis of FPGK could only be made 3 years later, after the patient developed some circumscribed leukoplakic lesions of the attached gingiva.…”

“…In addition to these findings, some of the affected patients were also reported to present nail changes, peri-and subungeal keratoses, follicular hyperkeratosis, hyperhidrosis, and oral keratotic lesions at other points of mechanical pressure. [1][2][3][4] Since the first description of focal palmoplantar and gingival keratosis (FPGK) in 1964, 2 only a few cases have been reported, including some families affected by the disease in several consecutive generations pointing to autosomal dominant inheritance. 1,[3][4][5][6] The clinical features of the disease remain to be defined in more detail.…”

“…[1][2][3][4] Since the first description of focal palmoplantar and gingival keratosis (FPGK) in 1964, 2 only a few cases have been reported, including some families affected by the disease in several consecutive generations pointing to autosomal dominant inheritance. 1,[3][4][5][6] The clinical features of the disease remain to be defined in more detail. Furthermore, the light and electron microscopic alterations of the keratotic palmoplantar and gingival lesions are not clear.…”