Kératodermie palmoplantaire ponctuée de Buschke-Fischer-Brauer et adénome hypophysaire

Elleuch, M.; Hajji, R.; Derbali, Fatma; Kammoun, N.; Charfi, N.; Abid, M.

doi:10.1016/j.ando.2013.07.712

Cited by 1 publication

(2 citation statements)

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“…of cases) Age (age in years) Ethnicity/ nationality Clinical (C) or molecular genetic (M) diagnosis (no. of cases) ( gene ) PPPK1 PPPK1 and malignancy Elhaji [ 6 ] 2020 Family reports (18) 18 M(8), F(10) NA Canadian C(7), M(11) ( AAGAB ) 52 9 Johnston [ 18 ] a 2020 Family report 1 F 80 NA M ( AAGAB ) > 1 1 Charfeddine [ 12 ] 2016 Family reports (8) 18 M(11), F(7) 21–95 Tunisian M ( AAGAB ) 62 1 Podder [ 19 ] 2015 Family report 1 M 66 NA C 6 1 Elleuch [ 20 ] 2014 Family report 1 M 70 NA C 38 3 Cui [ …”

Section: Resultsmentioning

confidence: 99%

“…Instead of simply incorporating these studies, we evaluated why they were absent in our initial search and identified two additional search terms used as synonyms for ‘punctate’. After adjusting the search, the screening of the reference list led to only two extra studies [ 20 , 23 ], indicating that the final search strategy was satisfactory.…”

Section: Discussionmentioning

confidence: 99%

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

Gram,

Bjerrelund,

Jelsig

et al. 2023

Orphanet J Rare Dis

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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.

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