Frequency of Facial Angiofibromas in Japanese Patients with Multiple Endocrine Neoplasia Type 1.

F i g u r e 1 . A: a s ma l l f a c i a l a n g i o f i b r o ma f o u n d i n t h e p a t i e n t . B -D: a n g i o f i b r o ma s s e e n i n o t h e r p a t i e n t s wi t h ME N1. Al l p a t i e n t s a r e J a p a n e s e a n d t h e y a l l h a v e h e t e r o z y g o u s g e r ml i n e mu t a t i o n i n t h e ME N1 g e n e . B : 6 4 -y e a r -o l d wo ma n ; C: 6 1 -y e a r -o l d ma n ; D: 7 2 -y e a r -o l d wo ma n . PICTURES IN CLINICAL MEDICINE Facial Angiofibroma as an Initial Manifestation in MultipleEndocrine Neoplasia Type 1 (Fig. 1B-D

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“…1B-D). The frequency of angiofibroma among Japanese patients is also lower than that of Caucasian patients (1)(2)(3) …”

Section: F I G U R E 1 A: a S Ma L L F A C I A L A N G I O F I B R mentioning

confidence: 95%

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

2008

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“…Up to 88% of patients have facial angiofibromas (50% have five or more), which are generally rare except in conjunction with tuberous sclerosis. [45][46][47][48] These red papules are frequently located around the nose and cheeks or on the lips. Collagenomas, found in areas of friction such as the feet, are noted in up to 72% of MEN1 patients, 45,46 while lipomas are seen in 17-34%.…”

Section: Cutaneous Manifestationsmentioning

confidence: 99%

Multiple endocrine neoplasia type 1 (MEN1)

Carroll

2012

Asia-Pac J Clncl Oncology

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Multiple endocrine neoplasia type 1 (MEN1) is inherited in an autosomal dominant fashion and predisposes to the development of hyperplastic or neoplastic changes in the parathyroid and pituitary glands and the endocrine pancreas, along with numerous other characteristic tumors and features. The management of each entity differs to some degree from their sporadic counterparts, while the lack of a genotype-phenotype correlation requires lifelong clinical, biochemical and radiological screening for the development of new tumors. While the syndrome itself is relatively rare (a prevalence of 1-10/100 000), it is likely that health-care practitioners from numerous specialities will occasionally encounter a patient with MEN1 and therefore a basic knowledge of the syndrome is important. In addition, many of the associated tumors are seen commonly in sporadic form, and a judicious policy is therefore required in deciding how thoroughly patients who develop these tumors should be screened for MEN1. The current literature on MEN1 is reviewed and key learning points are suggested for the clinician.

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“…Large visceral lipomas are noted occasionally. Multiple facial angiofibromas occur in 40 -80% of MEN1 patients, with half the cases having five or more; collagenomas are also common (53,55). Cutaneous tumors have been suggested as possibly helpful for presymptomatic diagnosis of MEN1 carriers (53).…”

Section: Pituitary Tumors In Men1mentioning

confidence: 99%

“…MEN1-specific skin tumors need more exploration as indicators of the MEN1 carrier state (53,55). (Table 3).…”

Section: Screening Of Dna or Of Tumor Expressions In Diagnosis Of Thementioning

confidence: 99%

CONSENSUS: Guidelines for Diagnosis and Therapy of MEN Type 1 and Type 2

Brandi¹,

Gagel²,

Angeli³

et al. 2001

The Journal of Clinical Endocrinology & Metabolism

1,455

445

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Frequency of Facial Angiofibromas in Japanese Patients with Multiple Endocrine Neoplasia Type 1.

Cited by 30 publications

References 14 publications

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

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

Multiple endocrine neoplasia type 1 (MEN1)

CONSENSUS: Guidelines for Diagnosis and Therapy of MEN Type 1 and Type 2

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