Answers

1. Cowden syndrome
2. Oral papillomas over the tongue [Figure 1]a and [Figure 2]a; trichilemmomas in periorificial distribution [Figure 1]b and [Figure 2]b; and palmoplantar keratotic pits [Figure 1]c, [Figure 1]d and [Figure 2]c.

Cowden syndrome belongs to the spectrum of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome caused by mutations in the PTEN gene. It is an autosomal dominant disorder, and 10%–45% of cases occur due to de novo mutation.^[1] There is no genotype–phenotype correlation observed for mutations in PTEN, and the role of environmental factors, human microbiome, and modifier genes in carcinogenesis is not completely understood.^[2],[3] The prevalence is estimated to be 1 in 200,000 individuals.^[4] The lifetime risk of developing breast cancer is 85%, thyroid follicular carcinoma and less commonly papillary thyroid carcinoma is approximately 35%, endometrial cancer is about 28%, kidney cancer is about 33%, colorectal cancer is about 9.0%, and melanoma is 6%.^[1] The National Comprehensive Cancer Network guidelines for Cowden syndrome is used worldwide for cancer surveillance in these patients.^[4] Smerdel et al. have recently published the revised guidelines for cancer surveillance in Cowden syndrome.^[5] Pilarski et al. in 2013, developed a revised, evidence-based criteria for the diagnosis of PTEN-related syndromes [Table 1].^[6] Being aware of the mucocutaneous signs would help the clinicians to clinch the diagnosis early and aid in appropriate cancer surveillance of the affected individuals and their family members.

Table 1: Revised phosphatase and tensin homolog hamartoma tumor syndrome clinical diagnostic criteria Click here to view

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