Facial Angiofibroma as an Initial Manifestation in Multiple Endocrine Neoplasia Type 1

Sakurai, Akihiro; Hashizume, Kiyoshi; Fukushima, Yoshimitsu

doi:10.2169/internalmedicine.47.1127

Cited by 5 publications

(10 citation statements)

References 4 publications

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“…In MEN1, the most frequent location is facial, mainly the upper lip, in contrast with tuberous sclerosis, where this location is spared [ 76 , 78 ]. Angiofibromas were the most frequent cutaneous tumor observed and were found in 18 studies according to our research [ 48 , 49 , 50 , 52 , 53 , 54 , 55 , 56 , 57 , 59 , 62 , 63 , 64 , 66 , 67 , 68 , 69 , 70 ]. Angiofibromas in MEN1 patients are reported with a frequency between 11% and 88% on studies of different sample size (varying from 145 to 5 patients) [ 48 , 49 , 69 ] ( Table 2 ).…”

Section: Men1 and Skin Tumor Profilesupporting

confidence: 53%

“…The most common cutaneous tumors found in patients with MEN1 were angiofibromas, collagenomas, and lipomas. Other cutaneous tumors found were melanomas, atypical nevi, basocellular carcinoma, squamous cell carcinoma, acrochordons, papillomatosis confluens et reticularis, gingival papules, and cutaneous T-cell lymphoma of the eyelid, but this category is not sustained by well-designed clinical studies and genetic workup in most cases, thus the association might be incidental ( Table 1 ) [ 31 , 39 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 ].…”

Section: Men1 and Skin Tumor Profilementioning

confidence: 99%

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Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors

et al. 2022

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Non-endocrine findings in patients with MEN1 (multiple endocrine neoplasia) syndrome also include skin lesions, especially tumor-type lesions. This is a narrative review of the English-language medical literature including original studies concerning MEN1 and dermatological issues (apart from dermatologic features of each endocrine tumor/neuroendocrine neoplasia), identified through a PubMed-based search (based on clinical relevance, with no timeline restriction or concern regarding the level of statistical significance). We identified 27 original studies involving clinical presentation of patients with MEN1 and cutaneous tumors; eight other original studies that also included the genetic background; and four additional original studies were included. The largest cohorts were from studies in Italy (N = 145 individuals), Spain (N = 90), the United States (N = 48 and N = 32), and Japan (N = 28). The age of patients varied from 18 to 76 years, with the majority of individuals in their forties. The most common cutaneous tumors are angiofibromas (AF), collagenomas (CG), and lipomas (L). Other lesions are atypical nevi, basocellular carcinoma, squamous cell carcinoma, acrochordons, papillomatosis confluens et reticularis, gingival papules, and cutaneous T-cell lymphoma of the eyelid. Non-tumor aspects are confetti-like hypopigmentation, café-au-lait macules, and gingival papules. MEN1 gene, respective menin involvement has also been found in melanomas, but the association with MEN1 remains debatable. Typically, cutaneous tumors (AF, CG, and L) are benign and are surgically treated only for cosmetic reasons. Some of them are reported as first presentation. Even though skin lesions are not pathognomonic, recognizing them plays an important role in early identification of MEN1 patients. Whether a subgroup of MEN1 subjects is prone to developing these types of cutaneous lesions and how they influence MEN1 evolution is still an open issue.

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Section: Men1 and Skin Tumor Profilesupporting

confidence: 53%

Section: Men1 and Skin Tumor Profilementioning

confidence: 99%

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors

et al. 2022

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“…She had no other signs of TS and the authors suggested the skin lesions might represent an uncommon response to the defect in tumor suppression due to the NF2 mutation. Angiofibromas have also been reported in a patient with the Birt–Hogg–Dubé (BHD)/Hornstein–Knickenberg syndrome of renal tumors, spontaneous pneumothoraces, and skin tumors that are usually fibrofolliculomas, trichodiscomas, and acrochordons [Schaffer et al, 2005]. In that case the lesions, which numbered over 100, fit the description of facial papules and did not appear until the patient was 38 years old.…”

Section: Discussionmentioning

confidence: 89%

“…In one family angiofibroma appears to have been the only confirmed skin lesion. Thus, it is possible that what is interpreted as angiofibroma may rarely be the sole skin manifestation of BHD but these lesions show later onset in keeping with the fibrous papule form [Schaffer et al, 2005; Toro, 2008].…”

Section: Discussionmentioning

confidence: 99%

Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas

Hunter

Nezarati

Velsher

2010

American J of Med Genetics Pt A

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Facial angiofibromas are a major diagnostic sign for tuberous sclerosis (TS) and MEN1, and the former is probably the first disease to be considered by a geneticist when such lesions are found. They occur in up to 90% of persons with TS and 40-80% of individuals with MEN1. Early onset facial angiofibromas that are not associated with any other systemic sign appear to be unusual, and their occurrence can leave the clinician with some uncertainty as to their significance, as well as how to proceed. In this article we describe four patients with what appear to be isolated, bilateral facial angiofibromas. We discuss the significance of these lesions with respect to the conditions in which they have been seen, review prior reports of apparently isolated angiofibromas, and provide some rough calculations as to how likely it would be for an underlying systemic condition to be overlooked after different levels of investigation have been performed. We also look at some aspects of the financial cost/benefit ratio of further investigation of TS beyond a clinical examination.

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“…Usually multiple and tending to be more commonly identified with increasing age in MEN1 patients ( 13 – 15 ), these dermatological manifestations can also be diagnosed in children ( 17 – 19 ) ( Figure 1 ). In fact, they can be the earliest or only manifestation of MEN1 ( 13 , 17 , 20 – 23 ). Like other MEN1 manifestations, there is no clear genotype-phenotype correlation ( 24 , 25 ).…”

Section: Cutaneous Tumors (Angiofibromas and Collagenomas)mentioning

confidence: 99%

Beyond the “3 Ps”: A critical appraisal of the non-endocrine manifestations of multiple endocrine neoplasia type 1

Waguespack

2022

Front. Endocrinol.

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Multiple endocrine neoplasia type 1 (MEN1), an autosomal-dominantly inherited tumor syndrome, is classically defined by tumors arising from the “3 Ps”: Parathyroids, Pituitary, and the endocrine Pancreas. From its earliest descriptions, MEN1 has been associated with other endocrine and non-endocrine neoplastic manifestations. High quality evidence supports a direct association between pathogenic MEN1 variants and neoplasms of the skin (angiofibromas and collagenomas), adipose tissue (lipomas and hibernomas), and smooth muscle (leiomyomas). Although CNS tumors, melanoma, and, most recently, breast cancer have been reported as MEN1 clinical manifestations, the published evidence to date is not yet sufficient to establish causality. Well-designed, multicenter prospective studies will help us to understand better the relationship of these tumors to MEN1, in addition to verifying the true prevalence and penetrance of the well-documented neoplastic associations. Nevertheless, patients affected by MEN1 should be aware of these non-endocrine manifestations, and providers should be encouraged always to think beyond the “3 Ps” when treating an MEN1 patient.

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Facial Angiofibroma as an Initial Manifestation in Multiple Endocrine Neoplasia Type 1

Cited by 5 publications

References 4 publications

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors

Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas

Beyond the “3 Ps”: A critical appraisal of the non-endocrine manifestations of multiple endocrine neoplasia type 1

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