عنوان

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

شماره

LA4kq2z97b

زبان متن نوشتاري يا گفتاري و مانند آن

انگلیسی

عنوان اصلي

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

نام عام مواد

[Article]

نام نخستين پديدآور

Roman, John W; Logemann, Nicholas F; Adams, Erin

متن يادداشت

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.

تاريخ نشر

2014

عنوان

Dermatology Online Journal

شماره جلد

20/9

عنصر شناسه اي

Roman, John W; Logemann, Nicholas F; Adams, Erin

نام الکترونيکي

نوع ماده

[Article]

کد کاربرگه

275578

سطح دسترسي

a

تكميل شده

Y