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Pseudoxanthoma elasticum and polyposis coli: a novel co-mutation
Archives of Surgery (Chicago, Ill. : 1960)
|April 1, 1981
Summary
This case report details the rare coexistence of pseudoxanthoma elasticum and polyposis coli in a 62-year-old woman, potentially indicating a novel genetic mutation or a variant of Gardner's syndrome.
Area of Science:
- Genetics
- Dermatology
- Gastroenterology
Background:
- Pseudoxanthoma elasticum (PXE) and polyposis coli are inherited disorders.
- Co-occurrence of PXE and polyposis coli has not been previously documented.
Observation:
- A 62-year-old woman presented with spontaneous onset of both pseudoxanthoma elasticum and polyposis coli.
- Fibroblasts are implicated as the defective cell in PXE and certain extracolonic manifestations of Gardner's syndrome.
Findings:
- The simultaneous presentation suggests a potential novel mutation.
- This case may represent an atypical manifestation of Gardner's syndrome.
Implications:
- Highlights the possibility of a shared genetic basis or a unique syndrome variation.
- Warrants further investigation into the genetic underpinnings of these coexisting conditions.