Papillon–Lefèvre syndrome treated with acitretin
A 7-year-old boy born to consanguineous parents had suffered from palmoplantar keratoderma and chronic gingivitis since the age of 3 months. He was diagnosed with Papillon–Lefèvre syndrome. Genetic testing confirmed that he was homozygous with a point mutation in exon 6 of the cathepsin C gene. One year after initiating treatment with acitretin 10 mg oral daily and trimethoprim-sulfamethoxazole, the patient's skin remains almost lesion-free, and he has new teeth that erupted during treatment and are free of periodontal disease..
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2005 |
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| Erschienen: |
Melbourne, Australia: Blackwell Science Pty ; 2005 |
| Reproduktion: |
2005 ; Blackwell Publishing Journal Backfiles 1879-2005 |
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| Enthalten in: |
Zur Gesamtaufnahme - volume:46 |
| Enthalten in: |
Australasian journal of dermatology - 46(2005), 3, Seite 0 |
| Beteiligte Personen: |
Lee, Michael R [VerfasserIn] |
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| Links: |
Volltext [Deutschlandweit zugänglich] |
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| Themen: |
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| Umfang: |
Online-Ressource |
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| doi: |
10.1111/j.1440-0960.2005.00180.x |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLEJ242317294 |
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| 520 | |a A 7-year-old boy born to consanguineous parents had suffered from palmoplantar keratoderma and chronic gingivitis since the age of 3 months. He was diagnosed with Papillon–Lefèvre syndrome. Genetic testing confirmed that he was homozygous with a point mutation in exon 6 of the cathepsin C gene. One year after initiating treatment with acitretin 10 mg oral daily and trimethoprim-sulfamethoxazole, the patient's skin remains almost lesion-free, and he has new teeth that erupted during treatment and are free of periodontal disease. | ||
| 533 | |d 2005 |f Blackwell Publishing Journal Backfiles 1879-2005 |7 |2005|||||||||| | ||
| 650 | 4 | |a cathepsin C gene | |
| 700 | 1 | |a Wong, Li-Chuen F |e verfasserin |4 aut | |
| 700 | 1 | |a Fischer, Gayle O |e verfasserin |4 aut | |
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