title: Papillon-Lefèvre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients.
abstract: 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.415G-->A, which is predicted to result in the amino acid substitution p.G139R. 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.
authors.affiliation: Department of Dermatology, Hirosaki University School of Medicine, Hirosaki, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Nakajima
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.forename: Noriko
authors.initials: N
authors.lastname: Takiyoshi
authors.forename: Akiko
authors.initials: A
authors.lastname: Rokunohe
authors.forename: Satsuki
authors.initials: S
authors.lastname: Ikenaga
authors.forename: Takayuki
authors.initials: T
authors.lastname: Aizu
authors.forename: Takahide
authors.initials: T
authors.lastname: Kaneko
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Mitsuhashi
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawamura
mesh_terms: D020789:Cathepsin C / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005528:Foot / Q000473:pathology; D020022:Genetic Predisposition to Disease / Q000208:ethnology*; D006801:Humans; D015994:Incidence; D007564:Japan / Q000453:epidemiology; D007645:Keratoderma, Palmoplantar / Q000150:complications* / Q000208:ethnology / Q000235:genetics; D008545:Melanoma / Q000208:ethnology / Q000209:etiology* / Q000473:pathology; D008875:Middle Aged; D020125:Mutation, Missense; D010214:Papillon-Lefevre Disease / Q000150:complications / Q000208:ethnology* / Q000235:genetics; D012878:Skin Neoplasms / Q000208:ethnology / Q000209:etiology* / Q000473:pathology
chemical_list: D020789:Cathepsin C