Andrea Saggini1, Maria Luisa Brandi. 1. Department of Dermatology, University of Rome Tor Vergata, Viale Oxford 81, Rome, Italy. andreasaggini@gmail.com
Abstract
OBJECTIVE: To review the main cutaneous manifestations of hereditary endocrine tumor syndromes and discuss currently known molecular mechanisms involved in their pathogenesis. METHODS: On the basis of our collective experience and a comprehensive MEDLINE literature search of the English-language literature published between January 1957 and September 2010 using the search terms "skin," "cutaneous," "multiple endocrine neoplasia," "Carney complex," and "McCune-Albright syndrome," we reviewed the dermatologic findings in multiple endocrine neoplasia type 1 and type 2, Carney complex, and McCune-Albright syndrome. RESULTS: Although the category of hereditary endocrine tumor syndromes consists of a broad spectrum of conditions, only the aforementioned few are prominently associated with cutaneous features. Because the cutaneous findings associated with these diseases are generally benign, they are often ignored or dismissed as ancillary findings in the context of severe systemic involvement. Accordingly, the pertinent literature is relatively scarce and often fails to provide a comprehensive insight about this issue. Nevertheless, timely recognition of such dermatologic manifestations may have a critical role in the early diagnosis and appropriate management of the related syndromes. Moreover, specific genotype-phenotype correlations may convey important prognostic implications. CONCLUSION: Many physicians are unfamiliar with the cutaneous findings in the hereditary endocrine tumor syndromes described in this review. Nonetheless, knowledge of their existence can have a major role in establishing an early diagnosis of these syndromes and determining the patient's prognosis.
OBJECTIVE: To review the main cutaneous manifestations of hereditary endocrine tumor syndromes and discuss currently known molecular mechanisms involved in their pathogenesis. METHODS: On the basis of our collective experience and a comprehensive MEDLINE literature search of the English-language literature published between January 1957 and September 2010 using the search terms "skin," "cutaneous," "multiple endocrine neoplasia," "Carney complex," and "McCune-Albright syndrome," we reviewed the dermatologic findings in multiple endocrine neoplasia type 1 and type 2, Carney complex, and McCune-Albright syndrome. RESULTS: Although the category of hereditary endocrine tumor syndromes consists of a broad spectrum of conditions, only the aforementioned few are prominently associated with cutaneous features. Because the cutaneous findings associated with these diseases are generally benign, they are often ignored or dismissed as ancillary findings in the context of severe systemic involvement. Accordingly, the pertinent literature is relatively scarce and often fails to provide a comprehensive insight about this issue. Nevertheless, timely recognition of such dermatologic manifestations may have a critical role in the early diagnosis and appropriate management of the related syndromes. Moreover, specific genotype-phenotype correlations may convey important prognostic implications. CONCLUSION: Many physicians are unfamiliar with the cutaneous findings in the hereditary endocrine tumor syndromes described in this review. Nonetheless, knowledge of their existence can have a major role in establishing an early diagnosis of these syndromes and determining the patient's prognosis.