Key result
Hereditary endocrine tumor syndromes exhibit distinct cutaneous manifestations, including angiofibromas in 39.9% of MEN1 patients and a melanoma prevalence of 2.2% in PHTS and 2.5% in MEN1 patients.
Why the study?
Endocrine tumor syndromes present with diverse cutaneous manifestations, but a synthesized evaluation of the dermatologic features associated with these syndromes was needed to aid early recognition.
Systematic Review (n=833)
Cutaneous findings offer valuable diagnostic clues for the early recognition and management of hereditary endocrine tumor syndromes, facilitating timely genetic evaluation and cancer surveillance.
Cutaneous signs may prompt genetic evaluation for hereditary endocrine syndromes; supports distinct patterns but leaves open prospective validation.
Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development. Alongside endocrine neoplasms, these syndromes present with diverse cutaneous manifestations, offering valuable diagnostic clues for early recognition and management. This systematic review and meta-analysis aimed to evaluate and synthesize the dermatologic features associated with these syndromes. Following PRISMA 2020 guidelines, a systematic search of MEDLINE, Cochrane Library, and Embase databases was conducted. Eligible publications included original articles, case reports, and case series with detailed dermatological descriptions of patients with the aforementioned syndromes. Data extraction and risk of bias assessment were performed independently by multiple reviewers. Statistical analyses and data visualization were conducted using program package R. A total of 217 studies comprising 833 patients were included: 276 MEN1, 48 MEN2A, 9 MEN2B, 121 CNC, and 452 PHTS cases. Distinct dermatologic patterns emerged within each syndrome: angiofibromas, collagenomas, and lipomas in MEN1; cutaneous lichen amyloidosis in MEN2A; mucosal neuromas in MEN2B; lentiginosis and cutaneous myxomas in CNC; and trichilemmomas, papillomatous papules, and acral keratoses in PHTS. Melanoma prevalence was 2.2% in PHTS and 2.5% in MEN1 patients, underscoring the need for dermatologic vigilance. This review highlights the role of dermatologic assessment in identifying endocrine tumor syndromes, with cutaneous findings often serving as early, accessible markers of systemic disease. Enhanced awareness of these manifestations can facilitate timely genetic evaluation, cancer surveillance, and multidisciplinary intervention. Trial Registration: PROSPERO registration number: CRD42024558093.
No takes yet. Share an insight, caveat, or question.
Pálla et al. (2025) conducted a systematic review in Endocrine tumor syndromes (MEN1, MEN2A, MEN2B, Carney complex, PTEN hamartoma tumor syndrome) (n=833). Endocrine tumor syndromes was evaluated on Prevalence of specific dermatologic manifestations. Hereditary endocrine tumor syndromes exhibit distinct cutaneous manifestations, including angiofibromas in 39.9% of MEN1 patients and a melanoma prevalence of 2.2% in PHTS and 2.5% in MEN1 patients.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: