Papillon-Lefèvre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients.

[papillon-lefèvre syndrome]

Papillon-Lefèvre syndrome (PLS ) is a rare autosomal-recessive genodermatosis characterized by palmoplantar hyperkeratosis and severe early -onset periodontitis . The development of malignant cutaneous neoplasms within the hyperkeratotic lesions of the syndrome is quite rare . Here , we report on a 51 -year -old Japanese woman with PLS associated with recurrent malignant melanoma (MM ). Mutation analysis of the cathepsin C gene revealed that the proband was homozygous for a missense mutation , c .415 G-->A , which is predicted to result in the amino acid substitution p .G 139 R . Including our case , 4 families have been described as having PLS with MM , 3 of which are Japanese , implying a high incidence of melanoma development in Japanese PLS patients . We suggest that hereditary palmoplantar keratoderma (PPK ) in Japanese patients might be predisposed to MM . A literature review revealed that in 18 cases of MM-associated PPK , 13 (76 %) were Japanese , suggesting a high incidence of MM in Japanese PPK patients . This tendency might be attributable to the high frequency of acral lentiginous melanoma in Japanese subjects , in contrast to a lower frequency of this subtype in Caucasians .