Preceding Cutaneous Manifestation as an Early Identification of Multiple Endocrine Neoplasia Type 1 Syndrome: A Case Report

Abstract

Background: Multiple Endocrine Neoplasia type 1 (MEN1) syndrome is a rare genetic disorder associated with the development of tumors in various endocrine glands. Cutaneous manifestations, such as angiofibromas and collagenomas, can be early indicators of the syndrome.

Case Report: A female patient with a history of progressive headache, rhinorrhea, secondary amenorrhea, and spontaneous galactorrhea was diagnosed with invasive pituitary adenoma. Over the past 10 years, she developed multiple skin-colored and brownish nodules, similar to those seen in her relatives, which were histologically consistent with collagenomas. Additional investigations revealed primary hyperparathyroidism. These combined clinical features led to the diagnosis of MEN1 syndrome. Notably, her mother had collagenomas more than 20 years prior and was subsequently diagnosed with a thyroid mass and invasive prolactinoma. Pathogenic variants of the MEN1 gene were identified in the patient, her mother, and her sister. Genetic counseling, as well as biochemical and radiological surveillance, was recommended for the patient and her affected family members.

Conclusion: Collagenoma is a crucial clue for early diagnosis of MEN1 syndrome. Detection of multiple collagenomas should prompt investigations for MEN1-related endocrine and non-endocrine tumors