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.
