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, Bethesda, MD, 20892, USA.
Fam Cancer. 2011 Sep;10(3):481-90. doi: 10.1007/s10689-011-9446-x.
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.
系统性疾病的皮肤标志物对临床医生的识别至关重要。本章概述了包括 Peutz-Jeghers 综合征、Carney 复合体、PTEN 错构瘤综合征和 LEOPARD/Noonan 综合征在内的家族性色素痣综合征。这些综合征的遗传方式为常染色体显性遗传；它们还具有特征性的皮肤表现，为识别和治疗提供线索。我们将讨论这些疾病的临床表现，重点介绍皮肤表现，并提供相关分子机制的最新进展。识别与这些罕见家族性癌症综合征相关的皮肤标志物为早期监测恶性肿瘤以及遗传咨询提供了机会。
