Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis

Area of Science:

• Endocrinology
• Dermatology
• Genetics
• Oncology

Background:

• Hereditary endocrine tumor syndromes (MEN1, MEN2A, MEN2B, CNC, PHTS) involve multisystem tumors and characteristic skin findings.
• Cutaneous manifestations provide crucial early diagnostic clues for these genetic conditions.

Purpose of the Study:

• To systematically review and synthesize dermatologic features associated with MEN1, MEN2A, MEN2B, CNC, and PHTS.
• To evaluate the role of dermatologic assessment in the early identification and management of endocrine tumor syndromes.

Main Methods:

• Systematic review and meta-analysis following PRISMA 2020 guidelines.
• Searched MEDLINE, Cochrane Library, and Embase databases for relevant studies.
• Included 217 studies with 833 patients, analyzing dermatologic patterns and melanoma prevalence.

Main Results:

• Distinct skin findings identified: angiofibromas/collagenomas/lipomas (MEN1), lichen amyloidosis (MEN2A), mucosal neuromas (MEN2B), lentiginosis/myxomas (CNC), trichilemmomas/papillomatous papules/acral keratoses (PHTS).
• Melanoma prevalence noted in PHTS (2.2%) and MEN1 (2.5%).
• Cutaneous markers are early indicators of systemic endocrine tumor syndromes.

Conclusions:

• Dermatologic assessment is vital for identifying endocrine tumor syndromes.
• Skin manifestations serve as accessible early markers, facilitating timely genetic evaluation and intervention.
• Increased awareness of these cutaneous signs improves patient outcomes through prompt diagnosis and surveillance.