Rare Diseases Symptoms Automatic Extraction

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.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.

Diseases presenting "melanoma" symptom

  • achondroplasia
  • carcinoma of the gallbladder
  • cowden syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • esophageal squamous cell carcinoma
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • inclusion body myositis
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • oculocutaneous albinism
  • papillon-lefèvre syndrome
  • pleomorphic liposarcoma
  • proteus syndrome
  • severe combined immunodeficiency
  • werner syndrome
  • wiskott-aldrich syndrome

This symptom has already been validated