Incidental angiofibromas prompt a diagnosis of multiple endocrine neoplasia type-1 (MEN-1)

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" Incidental angiofibromas prompt a diagnosis of multiple endocrine neoplasia type-1 (MEN-1) "
Roman, John W; Logemann, Nicholas F; Adams, Erin

Document Type	:	AL
Record Number	:	923750
Doc. No	:	LA4kq2z97b
Language of Document	:	English
Main Entry	:	Roman, John W; Logemann, Nicholas F; Adams, Erin
Title & Author	:	Incidental angiofibromas prompt a diagnosis of multiple endocrine neoplasia type-1 (MEN-1) [Article]\ Roman, John W; Logemann, Nicholas F; Adams, Erin
Title of Periodical	:	Dermatology Online Journal
Volume/ Issue Number	:	20/9
Date	:	2014
Abstract	:	Importance: We believe this to be the first documented report of multiple endocrine neoplasia type-1 (MEN-1) in which the diagnosis was suspected based purely on cutaneous findings. The patient was initially referred to the dermatology department for cosmetic concerns and had no overt symptoms, laboratory abnormalities, or known family history of MEN-1.Observations: The patient is a 28-year-old man who was referred to the dermatology department for evaluation and removal of skins lesions, later confirmed by biopsy to be facial angiofibromas and a truncal collagenoma. This combination of cutaneous findings was suspicious for a genodermatosis and genetic testing subsequently confirmed the diagnosis of MEN-1. The patient was referred for appropriate follow up and surveillance.Conclusions and Relevance: This case highlights the importance of vigilance on the part of dermatologists to be aware of subtle skin findings that may be characteristic of rare disorders and may have gone unrecognized by other providers and the patients themselves. In this respect, dermatologists are in a unique position given their specialized training in the recognition of inherited skin disorders. An early diagnosis of an inherited disorder, especially one with increased risk of malignancy, can allow for appropriate surveillance and potentially alter the course of the disease.