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Peer-reviewedCC BYInternational Dental Journal

Synonymous COL7A1 c.6846G>C in Dystrophic Epidermolysis Bullosa: Oral Phenotypic Expansion and Palatal Ultrastructure

  • Piranit Kantaputra1
  • Kittinunt Chotikaew2
  • Thareena Bunnag3
  • Anak Iamaroon4
  • Supanat Saearma2
  • Nuttaporn Sengtae5
  • Thippawan Yasanga6
  • Sissades Tongsima7
  • Chumpol Ngamphiw7
  • Chavalit Supsrisunjai3
7 affiliations
  1. 1Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
  2. 2Dental Department, Pattani Hospital, Sabarang, Pattani, Thailand
  3. 3Department of Medical Services, Ministry of Public Health, Institute of Dermatology, Bangkok, Thailand
  4. 4Department of Oral Biology and Diagnostic Sciences, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
  5. 5Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
  6. 6Integrated Research Infrastructure Center (iRIC), Research Administration Section, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
  7. 7National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency (NSTDA), Thailand Science Park, Pathum Thani, Thailand
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Abstract

Background: Dystrophic epidermolysis bullosa (DEB) results from pathogenic COL7A1 variants that impair collagen VII–dependent epithelial anchorage. Hard-palatal papules, absent lingual frenula, and ultrastructural characterization of these lesions have not been reported. Case description: Three siblings born to consanguineous, clinically unaffected Thai-Muslim parents developed DEB characterized by trauma-induced blistering, scarring, pigmentation, and nail dystrophy. All three also had absent lingual frenula and recurrent hard-palatal papules that coalesced into keratinized, cobblestone-like plaques. Histopathology showed epithelial–connective tissue separation with epithelial hyperplasia, inflammation, and fibrosis. Transmission electron microscopy demonstrated subepithelial cleavage, with basal keratinocytes retained on the epithelial side and lamina propria forming the blister floor. Whole-exome sequencing identified homozygous COL7A1 c.6846G>C (p.Leu2282Leu) in affected siblings; unaffected parents were heterozygous. This synonymous variant previously caused autosomal dominant DEB pruriginosa through exon 87 skipping. Conclusions and practical implications: This report identifies previously unrecognized palatal plaques and provides the first ultrastructural characterization of these lesions in COL7A1 -associated DEB. The same COL7A1 variant may show dominant expression in some families and recessive-like expression in others. Their recurrent blistering and subepithelial cleavage strongly support an association with DEB. Absent lingual frenula remain an unconfirmed finding requiring further study.

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Cite

BibTeXRIS
BibTeX
@article{kantaputra2026synonymous,
  title = {{Synonymous COL7A1 c.6846G>C in Dystrophic Epidermolysis Bullosa: Oral Phenotypic Expansion and Palatal Ultrastructure}},
  author = {Piranit Kantaputra and Kittinunt Chotikaew and Thareena Bunnag and Anak Iamaroon and Supanat Saearma and Nuttaporn Sengtae and Thippawan Yasanga and Sissades Tongsima and Chumpol Ngamphiw and Chavalit Supsrisunjai},
  journal = {International Dental Journal},
  year = {2026},
  month = oct,
  doi = {10.1016/j.identj.2026.111292},
  url = {https://doi.org/10.1016/j.identj.2026.111292},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Synonymous COL7A1 c.6846G>C in Dystrophic Epidermolysis Bullosa: Oral Phenotypic Expansion and Palatal Ultrastructure
AU  - Piranit Kantaputra
AU  - Kittinunt Chotikaew
AU  - Thareena Bunnag
AU  - Anak Iamaroon
AU  - Supanat Saearma
AU  - Nuttaporn Sengtae
AU  - Thippawan Yasanga
AU  - Sissades Tongsima
AU  - Chumpol Ngamphiw
AU  - Chavalit Supsrisunjai
PY  - 2026
DA  - 2026/10/30
JO  - International Dental Journal
DO  - 10.1016/j.identj.2026.111292
UR  - https://doi.org/10.1016/j.identj.2026.111292
AB  - Background: Dystrophic epidermolysis bullosa (DEB) results from pathogenic COL7A1 variants that impair collagen VII–dependent epithelial anchorage. Hard-palatal papules, absent lingual frenula, and ultrastructural characterization of these lesions have not been reported. Case description: Three siblings born to consanguineous, clinically unaffected Thai-Muslim parents developed DEB characterized by trauma-induced blistering, scarring, pigmentation, and nail dystrophy. All three also had absent lingual frenula and recurrent hard-palatal papules that coalesced into keratinized, cobblestone-like plaques. Histopathology showed epithelial–connective tissue separation with epithelial hyperplasia, inflammation, and fibrosis. Transmission electron microscopy demonstrated subepithelial cleavage, with basal keratinocytes retained on the epithelial side and lamina propria forming the blister floor. Whole-exome sequencing identified homozygous COL7A1 c.6846G>C (p.Leu2282Leu) in affected siblings; unaffected parents were heterozygous. This synonymous variant previously caused autosomal dominant DEB pruriginosa through exon 87 skipping. Conclusions and practical implications: This report identifies previously unrecognized palatal plaques and provides the first ultrastructural characterization of these lesions in COL7A1 -associated DEB. The same COL7A1 variant may show dominant expression in some families and recessive-like expression in others. Their recurrent blistering and subepithelial cleavage strongly support an association with DEB. Absent lingual frenula remain an unconfirmed finding requiring further study.
SN  - 0020-6539
SN  - 1875-595X
ER  -