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A 5-year-old girl with generalized verrucous hyperkeratosis consulted the dermatologist for diagnosis and therapy. Further physical and mental development were normal. Gene analysis of keratin 1 and 10 was negative. According to the clinical findings, the diagnosis ichthyosis hystrix was made. Treatment with oral vitamin-A was suggested to the family.

Endometrial cancer diagnosed at a relatively young age or in a patient with a medical history of colorectal cancer may be indicative of Lynch syndrome. Four women, aged 43, 60, 41 and 54 respectively, with a family history of endometrial or colorectal neoplasm were examined for microsatellite instability (MSI) in tumour tissue with positive results. Subsequently, a mutation was found in one of the DNA mismatch repair genes. Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is caused by a germline mutation in a mismatch repair gene and is an autosomal dominant disorder that is characterized by the development of carcinoma of the endometrium and colorectum at a relatively young age. Until recently, recognition of Lynch syndrome was mainly based on an, often incomplete, family history, but today the presence of MSI in tumour tissue can be used to identify patients at risk for Lynch syndrome. A pathologist can contribute to identifying a patient at risk for Lynch syndrome by initiating MSI testing when: (a) endometrial cancer is diagnosed under the age of 50, (b) a combination of endometrial cancer and colorectal cancer is diagnosed under the age of 70.

A family history of ovarian cancer without breast cancer can be a pitfall in interpreting the high breast cancer risks. A family with high breast and ovarian cancer risks due to a BRCA1 or BRCA2 mutation, can present itself with ovarian cancer only. In three women, 43, 50 and 61 years of age, there was a family history of ovarian cancer. In the youngest woman breast carcinoma was diagnosed and she was referred for genetic counseling and DNA mutation analysis. She was identified with a pathogenic mutation in BRCA1 and decided for regular breast examination and prophylactic adnectomy. The 50-year-old woman presented with ovarian cancer and was found to have a BRCA1 mutation. She received surgery and chemotherapy for her ovarian cancer and regular examination of the breasts. The third woman at risk could be reassured, since she did not carry the BRCA1 mutation that was found in her affected sister. Because the patients and their family members can benefit from regular surveillance and prophylactic surgery, it is of great importance to identify the high breast cancer risks as well as the high ovarian cancer risks in these families.