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Case report uncovers cutaneous lichen amyloidosis as a marker for multiple endocrine neoplasia type 2A, enabling timely diagnosis and management.
Multiple endocrine neoplasia type 2A (MEN 2A) is a rare hereditary endocrine syndrome typically characterized by medullary thyroid carcinoma, pheochromocytoma, and primary hyperparathyroidism. Cutaneous lichen amyloidosis (CLA) is an uncommon dermatologic manifestation associated with REarranged during Transfection (RET) mutations, especially at codon 634. We report the case of a 26-year-old female who initially presented with a pruritic interscapular skin lesion, later diagnosed as CLA. Further evaluation revealed MEN 2A, confirmed by genetic testing showing a RET Cys634Tyr mutation. She underwent successful bilateral adrenal-sparing adrenalectomy, total thyroidectomy, and parathyroidectomy. This case underscores the diagnostic importance of recognizing CLA as a cutaneous marker for early identification of MEN 2A, enabling timely genetic counseling and management.
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Modi et al. (2026) studied this question.
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