A Case Report on a PTCH1 Mutation in Basal Cell Carcinoma
Author Information
Author(s): Hellani Ali, Baghdadi Hiba, Dabbour Nidal, Almassri Nidal, Abu-Amero Khaled K
Primary Institution: Saad Specialist Hospital, Al-khobar, Saudi Arabia
Hypothesis
Can a PTCH1 germline mutation help differentiate between basal cell carcinoma and basaloid follicular hamartoma?
Conclusion
Screening the PTCH1 gene for mutations helped to differentiate between basaloid follicular hamartoma and nevoid basal cell carcinoma and confirmed the diagnosis.
Supporting Evidence
- The patient presented with multiple jaw cysts and clinical features consistent with nevoid basal cell carcinoma syndrome.
- Histopathological examination showed ambiguous findings that required genetic testing for differentiation.
- A de novo mutation (c.1291delC) was identified in the PTCH1 gene, not found in the parents or normal volunteers.
Takeaway
A 15-year-old boy had a special gene change that helped doctors tell the difference between two similar skin problems.
Methodology
The entire PTCH1 gene was sequenced to identify mutations.
Limitations
The study is based on a single case, limiting generalizability.
Participant Demographics
A 15-year-old boy with no family history of the condition.
Digital Object Identifier (DOI)
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