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. 2005 Sep;54(9):1279-82.
doi: 10.1136/gut.2005.064881. Epub 2005 May 6.

Fordyce granules and hereditary non-polyposis colorectal cancer syndrome

C De Felice  1 , S Parrini, G Chitano, M Gentile, L Dipaola, G Latini
Affiliations

Fordyce granules and hereditary non-polyposis colorectal cancer syndrome

C De Felice et al. Gut. 2005 Sep.

Abstract

Background: Germline mutations in mismatch repair (MMR) genes are found in only about half of clinically diagnosed families with hereditary non-polyposis colorectal cancer syndrome (HNPCC) (or Lynch syndrome). Early identification of gene carriers is essential to reduce cancer incidence and overall mortality.

Aims: Recent evidence indicates an increase in size and number of sebaceous glands following activation of the hedgehog pathway, a crucial signalling pathway for animal development that is aberrantly activated in several types of cancer. Here we sought to assess a possible association between Fordyce granules (FGs-that is, ectopic sebaceous glands on the oral mucosa) and HNPCC.

Methods: A total of 15 members of five different genetically unrelated HNPCC kindreds (MLH1 gene mutation n = 8; undetectable MLH1 protein at immunochemistry n = 4; clinical diagnosis n = 3) and 630 genetically unrelated age and sex matched healthy controls were examined. Following examination of the oral mucosa surface, subjects were categorised as either FGs positive or FGs negative.

Results: Evidence of FGs was significantly associated with HNPCC (13/15 (86.7%) affected patients v 6/630 (0.95%) controls; p<0.0001), with a relative risk of 91.0 (95% confidence interval 40.05-206.76). The observed difference remained significant when carriers of germline mutations in MMR genes were considered (8/15 v 6/630; p<0.0001). The most common site for the FGs in HNPCC patients was the lower gingival and vestibular oral mucosa.

Conclusions: Our findings suggest that a previously unrecognised activation of the sebaceous glands system occurs in HNPCC. The observation could be of value for attending physicians in identifying affected families and/or increase the accuracy of the currently available molecular genetics screenings.

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Figures

Figure 1
Figure 1
(A) Fordyce granules (FGs) (arrowheads) in the oral vestibular mucosa of a patient with hereditary non-polyposis colorectal cancer carrying the c.545+1G>A in intron 6 MLH1 germline mutation. FGs appear as rice-like yellow-white papules with a maximum diameter of ∼1–3 mm, surrounded by normal mucosa. Local elevation of the epithelium is clearly recognisable. (B) Corresponding oral vestibular mucosa in a healthy control subject.
See this image and copyright information in PMC

References

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