Case Report: Papillon–Lefèvre syndrome beyond keratoderma: two index presentations and sibling screening in two families
Hilal Karabag Citlak, Fatih Sultan Mehmet Koc, Gulizar Demir, Gulben Ozgul Postuk, Nurdan Kayki Aksoy, Oguzhan Demir, Ayberk Turkyilmaz, Alper Han Cebi, Zeynep Gokce Gayretli Aydin, Gul Salci, Nalan Yildiz, Fazil Orhan · 2026
Read Case Report: Papillon–Lefèvre syndrome beyond keratoderma: two index presentations and sibling screening in two families by Hilal Karabag Citlak, Fatih Sultan Mehmet Koc, Gulizar Demir, Gulben Ozgul Postuk, Nurdan Kayki Aksoy, Oguzhan Demir, Ayberk Turkyilmaz, Alper Han Cebi, Zeynep Gokce Gayretli Aydin, Gul Salci, Nalan Yildiz, Fazil Orhan (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13447139.txt.
Description
Hilal Karabag Citlak and colleagues describe four children with Papillon-Lefèvre syndrome in a 2026 case report covering two unrelated families. The rare inherited condition is best known for thick skin on palms and soles plus severe early gum disease. These cases show a wider range, including deep infection as the first sign.
In one family, a girl presented with a large abscess deep in the hip area, while her identical twin had only mild skin and dental signs. In the other family, a boy had repeated soft tissue abscesses and years of delay after his skin changes were mistaken for psoriasis. Gene testing confirmed two different gene variants, and screening found affected siblings early. The report argues for prompt testing and checks of relatives.
Catalog record
| CREATOR | Hilal Karabag Citlak, Fatih Sultan Mehmet Koc, Gulizar Demir, Gulben Ozgul Postuk, Nurdan Kayki Aksoy, Oguzhan Demir, Ayberk Turkyilmaz, Alper Han Cebi, Zeynep Gokce Gayretli Aydin, Gul Salci, Nalan Yildiz, Fazil Orhan |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 33892 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |