Expanding phenotypic insights of palmoplantar keratodermas based on novel <i>FAM83G</i> variants
We report two unrelated patients with new pathogenic variants in the FAM83G gene, supporting the causal link to previously identified families with recessive hereditary palmoplantar keratoderma. Although structural changes of the hairs are a key feature of FAM83G-associated disease, a complete loss of the gene, seen in one of the patients, shows normal hair and does not support this part of the clinical phenotype.
Authors
- Jasper J. van der Smagt (ORCID: https://orcid.org/0000-0002-6210-3326)
- Tom E. J. Theunissen
- Michel van Geel (ORCID: https://orcid.org/0000-0002-0273-8020)
- Peter M. Steijlen (ORCID: https://orcid.org/0000-0002-6816-0380)
- Marike W. van Gisbergen
- Antoni Gostyński (ORCID: https://orcid.org/0000-0002-1091-2914)
- Maaike Vreeburg (ORCID: https://orcid.org/0000-0003-0333-7082)
- S Vanya J Rossel (ORCID: https://orcid.org/0000-0003-1783-8080)
- Renske Janssen
- Tariraishe Kaseke
Institutions
- Maastricht University Medical Centre (NL)
- University Medical Center Utrecht (NL)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2024-10-25
- DOI
- https://doi.org/10.1093/bjd/ljae419
- Citations
- 5
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 1.63