HistoryThis section has been translated automatically.
Norris, 1857; Clark, 1978
DefinitionThis section has been translated automatically.
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EtiopathogenesisThis section has been translated automatically.
The proportion of genetic melanomas is 5-10%. This corresponds to about 500 new cases per year in Germany. It is assumed that up to 40% of autosomal dominantly inherited melanomas can be traced back to a mutation in the CDKN2A gene (cyclin dependent kinase inhibitor 2A, p16).
The gene is located on chromosome 9 and codes, among other things, for the synthesis of the guardian protein p16, whose function is to prevent uncontrolled cell division of pigment cells. Mutation of the CDKN2A gene results in decreased production of p16 and consecutive proliferation of melanocytes.
Families that have been shown to be CDNK2A mutation carriers also have a significantly increased incidence of pancreatic cancer (multiple mole melanoma-pancreatic cancer syndrome; lifetime risk is approximately 17%). The relationship is unexplained. A second gene (CDK4) also plays a (but minor) role in BK-Mole syndrome.
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Clinical featuresThis section has been translated automatically.
Per patient 10 to more than 100, usually 0.5-1.0 cm large (or larger), bizarrely configured, pink, brown or black melanocytic nevi appear, often with a reddish-brownish rim. One dermal component may be palpable.
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The first evidence of a familial susceptibility to melanoma dates back to 1820. Already at that time a medical paper described a family in which over three generations melanomas occurred in a cluster, each of which had arisen from one of numerous melanocytic nevi. The term "BK-mole-syndrome" was coined by Clark. It is recommended to also examine family members for FAMM syndrome and to monitor them closely, including pancreas checks.
LiteratureThis section has been translated automatically.
- Ackerman AB (2003) "Dysplastic nevus" syndrome: does a survey make it real? J Am Acad Dermatol 48: 461-463.
- Bruce H et al (2009) Cutaneous manifestations of internal malignancy. Cancer J Clin 59: 73-98
- Clark WH Jr et al (1978) Origin of familial malignant melanomas from heritable melanocytic lesions. The B-K mole syndrome. Arch Dermatol 114: 732-738.
- Happle R (1989) Gregor Mendel and the dysplastic nevi. Dermatologist 40: 70-76
- Hübinger L et al (2014) Genodermatoses associated with malignant skin tumors. Dermatologist 65: 527-535
- Kint A (1986) The dysplastic nevus syndrome. Z Hautkr 61: 595-598
- Lynch HT et al (1978) Familial atypical multiple mole-melanoma syndrome. J Med Genet 15: 352-356.
- Naeyaert JM et al (2003) Clinical practice. Dysplastic nevi. N Engl J Med 349: 2233-2240.
Nieuwenburg SA et al (2020) Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome. Fam Cancer 19:347-351.
- Norris W (1820) Case of fungoid disease. Edingburgh Med Surg 16: 562-565.
- Sabbaghian N et al (2011) Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma. Fam Cancer 10:315-317.
Incoming links (18)Bk-naevus syndrome; CDKN2A Gene ; Dysplastic nevus syndrome; Familial atypical multiple mole melanoma; Familial melanoma; Famm and pancreatic carcinoma-melanoma syndrome; Famm syndrome; Juvenile melanoma; Large atypical mole syndrome; Melanoma pancreatic cancer syndrome; ... Show all
Outgoing links (1)Excision;
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