caa a22 4500 445330937 CHVBK 20180317142737.0 cr unu---uuuuu 170323e20110901xx s 000 0 eng 10.1007/s10689-011-9446-x doi (NATIONALLICENCE)springer-10.1007/s10689-011-9446-x The differential diagnosis of familial lentiginosis syndromes [Elektronische Daten] [Maya Lodish, Constantine Stratakis] Cutaneous markers of systemic disease are vital for clinicians to recognize. This chapter outlines familial lentiginosis syndromes that include Peutz-Jeghers syndrome, Carney Complex, the PTEN hamartomatous syndromes, and LEOPARD/Noonan syndrome. The inheritance of these syndromes is autosomal dominant; they also share characteristic skin findings that offer a clue to their recognition and treatment. We will discuss the clinical presentation of these disorders, with a focus on the dermatological manifestations, and will provide an update on the molecular mechanisms involved. Recognition of cutaneous markers associated with these rare familial cancer syndromes provides the opportunity to pursue early surveillance for malignancies, as well as genetic counseling. Springer Science+Business Media B.V. (outside the USA), 2011 Hamartoma nationallicence Lentigines nationallicence Mamallian target of rapamycin nationallicence Tumor suppressor nationallicence Lodish Maya Section on Endocrinology and Genetics, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, and Pediatric Endocrinology Inter-Institute Training Program, National Institutes of Health, Building 10, CRC Room 1-3330, 10 Center Drive, MSC 1103, 20892, Bethesda, MD, USA aut Stratakis Constantine Section on Endocrinology and Genetics, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, and Pediatric Endocrinology Inter-Institute Training Program, National Institutes of Health, Building 10, CRC Room 1-3330, 10 Center Drive, MSC 1103, 20892, Bethesda, MD, USA aut Familial Cancer Springer Netherlands 10/3(2011-09-01), 481-490 1389-9600 10:3<481 2011 10 10689 https://doi.org/10.1007/s10689-011-9446-x text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9446-x text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lodish Maya Section on Endocrinology and Genetics, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, and Pediatric Endocrinology Inter-Institute Training Program, National Institutes of Health, Building 10, CRC Room 1-3330, 10 Center Drive, MSC 1103, 20892, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Stratakis Constantine Section on Endocrinology and Genetics, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, and Pediatric Endocrinology Inter-Institute Training Program, National Institutes of Health, Building 10, CRC Room 1-3330, 10 Center Drive, MSC 1103, 20892, Bethesda, MD, USA aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/3(2011-09-01), 481-490 1389-9600 10:3<481 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer