Several germline mutations and sequence variants in cancer predisposition genes have been described. Among these, the CDKN2A p.A148T variant appears to be frequent in patients with melanoma, at least in certain ethnic groups.
View Article and Find Full Text PDFOculocutaneous albinism is a group of rare inherited disorders of pigmentation. Some albinos may have a certain degree of melanin production and, consequently, may develop pigmented lesions during their lives. Albinos are also at great risk for developing cutaneous malignancy, including melanomas.
View Article and Find Full Text PDFNeurosyphilis presenting as a cerebral gumma is an uncommon event. To date there are seven cases of cerebral gumma reported in human immunodeficiency virus (HIV)-infected patients. We describe a HIV-infected patient with neurosyphilis presenting as an expanding central nervous system lesion and unremarkable cerebrospinal fluid analysis.
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