Reverse referral: from pathology to endocrinology

Abstract

Establishing a diagnosis of multiple endocrine neoplasia type 1 (MEN1) especially in children, adolescents, and young adults can be challenging because of phenotypic heterogeneity even among family members. We report an adolescent girl diagnosed to have MEN1 following presentation with multiple collagenomas. Histological evaluation of her cutaneous lesions revealed >70 collagenomas. Hormonal evaluation included calcium, phosphate, and parathormone measurements. Exons 2-10 of the MEN1 gene and flanking intron-exon borders were sequenced and revealed a novel nonsense mutation, Y222X. Following the identification of the cutaneous lesions as collagenomas by the pathologist, the patient was referred for an endocrine evaluation which revealed asymptomatic primary hyperparathyroidism. The patient elected to have surgery at which time she was found to have parathyroid hyperplasia. This case emphasizes the usefulness of cutaneous findings for the diagnosis and management of MEN1.