Neurocutaneous spectrum of multiple endocrine neoplasia-1

Abstract

Multiple endocrine neoplasia type I or Wermer syndrome is characterized by primary hyperparathyroidism, enteropancreatic endocrine tumor, and a pituitary pathology. A 35-year-old male presented with visual field defects, hyperprolactinemia, and hypogonadism. He also had multiple infraumbilical skin-colored nodules. A syndromal association of Wermer syndrome was derived using the dermal, pituitary, parathyroid, and gastrointestinal hormonal manifestations of the tumor. The radiological and histological findings of lesion which underwent biopsy are discussed. The presence of collagenomas, lipomas, and hypopigmented macules in a patient with neuroendocrine symptoms should raise the suspicion of an underlying multiple endocrine neoplasia.

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

“…Unlike angiofibromas, the face is a rare site for collagenomas [ 53 , 81 , 82 , 83 ]. Collagenomas were observed in 11 studies based on our analysis in MEN1 subjects [ 48 , 49 , 53 , 55 , 58 , 59 , 61 , 62 , 63 , 65 , 72 ]. Their prevalence was between 40% and 72%.…”

“…Overall, we identified 27 original studies involving clinical presentation of patients with MEN1 syndrome and cutaneous tumors [ 31 , 39 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 ]. We also mentioned eight original studies involving the genetics of these types of skin tumors [ 88 , 89 , 90 , 91 , 92 , 93 , 94 , 95 ].…”

“…Collagenomas were most often accompanied by other cutaneous tumors. They were, however, the single cutaneous tumors in four case reports [ 58 , 61 , 65 , 72 ].…”

Early-onset, severe, and recurrent primary hyperparathyroidism associated with a novel <i>CDC73</i> mutation

“…Although HPT-JT is a rare tumor syndrome, it cannot be overlooked because parathyroid carcinoma develops more frequently in this syndrome than other selected for MEN1 (12 articles, 30 patients) [12][13][14][15][16] and HPT-JT (9 articles, 35 patients) [17][18][19][20]. Serum calcium levels ranged from 10.8 to 17.5 mg/dL (mean 12.3 mg/dL, median 13.2 mg/dL) at 25-35 years old in MEN1 cases, and 12.0 to 16.8 mg/dL (mean 13.7 mg/dL, median 11.5 mg/dL) in HPT-JT cases (Fig.…”