Journal of Investigative Dermatology

TABLE 1

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Value of MLH1 and MSH2 Mutations in the Appearance of Muir–Torre Syndrome Phenotype in HNPCC Patients Presenting Sebaceous Gland Tumors or Keratoacanthomas

Giovanni Ponti, Lorena Losi, Monica Pedroni, Emanuela Lucci-Cordisco, Carmela Di Gregorio, Giovanni Pellacani and Stefania Seidenari

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Table 1. Clinical features of MTS patients identified among HNPCC families

Case Sex Skin lesion histology Age at first skin lesion Site Visceral tumor in the proband (age) Tumors in the family (age)
1FSebaceous carcinoma46BackUterus 40 (sister)
      Ovary 40 (sister)
      Ovary 34 (daughter)
      Rectum 29 (nephew)
2MSebaceous epithelioma49BackColon 49Rectum 59 (father)
      Colon 38 (mother)
3MSebaceous carcinoma54EyelidColon 48Colon 45 (brother)
      Colon 38 (brother)
      Uterus 40 (sister)
      Bone 16 (nephew)
4FSebaceous adenoma46EyelidBreast 38Colon 33 (mother)
     Uterus 40Colon 39 (sister)
     Colon 45Colon 32 (brother)
      Stomach 42 (uncle)
      Colon 37 (uncle)
      Uterus 50; colon 48 (ant)
      Uterus 33 (grandmother)
5FKeratoacanthoma63NoseColon 62Pancreas 60 (brother)
      Pancreas 50 (brothers)
      Breast (aunt)
      Colonic adenomas (daughter)

 F, female; HNPCC, hereditary non-polyposis colorectal cancer; M, male; MTS, Muir–Torre syndrome.

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