title: Hereditary syndromes predisposing to endocrine tumors and their skin manifestations.
abstract: We often think of the lentiginoses, phacomatoses and other neurocutaneous syndromes as conditions that affect the skin and also predispose to a variety of tumors. However, we rarely think of Peutz-Jeghers syndrome (PJS), Carney complex (CNC), Cowden disease (CD), neurofibromatosis type-1 (NF-1) or tuberous sclerosis (TSC) as conditions that are multiple endocrine neoplasias (MEN). Indeed, all of these conditions predispose to a variety of endocrine tumors, in addition to many other neoplasms. On the other hand, the classic MENs, type 1 and 2 (MEN-1 and MEN-2, respectively) are almost never thought in terms of their skin manifestations. In this review, we present extensively the MEN-1, MEN-2 and PJS syndromes, and briefly refer to CD, NF-1, and TSC. CNC is discussed in another article in this journal issue.
authors.affiliation: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room East 1330, CRC, 10 Center Dr. MSC1862, Bethesda, MD, 20892-1862, USA. stratakc@mail.nih.gov.
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D006801:Humans; D009377:Multiple Endocrine Neoplasia / Q000150:complications* / Q000235:genetics; D010580:Peutz-Jeghers Syndrome / Q000150:complications* / Q000235:genetics; D012871:Skin Diseases / Q000209:etiology*
keywords: Cowden disease; Hereditary tumor syndrome; Multiple endocrine neoplasia; Neurofibromatosis type 1; Peutz-Jeghers syndrome; Tuberous sclerosis