Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature

S. B. Gram*, J. Bjerrelund, A. M. Jelsig, A. Bygum, C. Leboeuf-Yde, L. B. Ousager

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

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Abstract

Background: An association between punctate palmoplantar keratoderma type 1 (PPPK1) and malignancy has been proposed for decades. Some authors suggest that individuals with PPPK1 should undergo screening for various types of malignancies while others caution that an association is not well-established. In this systematic review, we summarized and evaluated the current evidence for a possible association between PPPK1 and malignancy. Methods: The review was conducted along PRISMA guidelines. The search used Embase, MEDLINE, Scopus, and the Human Gene Mutation Database up to March 2022. All studies reporting on individuals with the diagnosis of PPPK1 with or without history of malignancy were included. Two authors screened for eligible studies, extracted predefined data, and performed a quality assessment. Results: Of 773 studies identified, 45 were included. Most studies were reports on single families (24 of 45 studies) or multiple families (10 of 45 studies). The number of index cases with PPPK1 across all included studies was 280, and when family members reported with PPPK1 were added, a total of 817 individuals were identified. Overall, 23 studies reported on individuals with PPPK1 with a history of malignancy, whereas 22 studies reported on individuals with PPPK1 without a history of malignancy. Although the extracted data were not considered to be of sufficient quality to synthesize and answer our research question, the review did not confirm an association between PPPK1 and malignancy. Conclusion: This review shows that there is a lack of well-designed studies on this topic to conclude whether individuals with PPPK1 have an increased risk of malignancy. Based on the present literature, however, we could not confirm an association between PPPK1 and malignancy and find it highly questionable if patients with PPPK1 should be offered surveillance for malignancies.

Original languageEnglish
Article number290
JournalOrphanet Journal of Rare Diseases
Volume18
Number of pages11
ISSN1750-1172
DOIs
Publication statusPublished - 13. Sept 2023

Keywords

  • AAGAB
  • Malignancy
  • Punctate palmoplantar keratoderma type 1
  • Humans
  • Family
  • Keratoderma, Palmoplantar/genetics
  • Neoplasms/genetics
  • Databases, Factual

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