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FAMMM syndrome: pathogenesis and management.
Dermatol Surg 2004; 30(2 Pt 2):291-6DS

Abstract

Familial atypical multiple mole melanoma (FAMMM) syndrome is an autosomal dominant disorder with variable incomplete penetrance of the clinical phenotypes. Pathogenesis of this syndrome has not been fully investigated. Across multiple studies, germline mutations in the INK4a antioncogene encoding p16 protein were found on average in approximately 40% of the FAMMM syndrome. Patients with the FAMMM syndrome are genetically loaded with an increased risk of developing melanoma and other malignant neoplasms, for example, a pancreatic cancer. Melanoma can develop from numerous atypical moles as well as de novo. A proper diagnosis of the syndrome and early application of prophylactics decreases the risk of neoplastic transformation of melanocytes.

Authors+Show Affiliations

Department of Dermatology, Ludwik Rydygier Medical University, Bydgószcz, Poland. rafal.czajkowski@pf.plNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

14871223

Citation

Czajkowski, Rafał, et al. "FAMMM Syndrome: Pathogenesis and Management." Dermatologic Surgery : Official Publication for American Society for Dermatologic Surgery [et Al.], vol. 30, no. 2 Pt 2, 2004, pp. 291-6.
Czajkowski R, Placek W, Drewa G, et al. FAMMM syndrome: pathogenesis and management. Dermatol Surg. 2004;30(2 Pt 2):291-6.
Czajkowski, R., Placek, W., Drewa, G., Czajkowska, A., & Uchańska, G. (2004). FAMMM syndrome: pathogenesis and management. Dermatologic Surgery : Official Publication for American Society for Dermatologic Surgery [et Al.], 30(2 Pt 2), pp. 291-6.
Czajkowski R, et al. FAMMM Syndrome: Pathogenesis and Management. Dermatol Surg. 2004;30(2 Pt 2):291-6. PubMed PMID: 14871223.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - FAMMM syndrome: pathogenesis and management. AU - Czajkowski,Rafał, AU - Placek,Waldemar, AU - Drewa,Gerard, AU - Czajkowska,Aldona, AU - Uchańska,Grazyna, PY - 2004/2/12/pubmed PY - 2004/4/14/medline PY - 2004/2/12/entrez SP - 291 EP - 6 JF - Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] JO - Dermatol Surg VL - 30 IS - 2 Pt 2 N2 - Familial atypical multiple mole melanoma (FAMMM) syndrome is an autosomal dominant disorder with variable incomplete penetrance of the clinical phenotypes. Pathogenesis of this syndrome has not been fully investigated. Across multiple studies, germline mutations in the INK4a antioncogene encoding p16 protein were found on average in approximately 40% of the FAMMM syndrome. Patients with the FAMMM syndrome are genetically loaded with an increased risk of developing melanoma and other malignant neoplasms, for example, a pancreatic cancer. Melanoma can develop from numerous atypical moles as well as de novo. A proper diagnosis of the syndrome and early application of prophylactics decreases the risk of neoplastic transformation of melanocytes. SN - 1076-0512 UR - https://www.unboundmedicine.com/medline/citation/14871223/FAMMM_syndrome:_pathogenesis_and_management_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=1076-0512&date=2004&volume=30&issue=s2&spage=291 DB - PRIME DP - Unbound Medicine ER -