Defining the Vascular Anomalies in Maffucci Syndrome: A Systematic Review

Area of Science:

• Medical Genetics
• Dermatology
• Radiology

Background:

• Maffucci syndrome (MS) is a rare genetic disorder.
• It is characterized by enchondromas and vascular anomalies (VAs).
• Current literature shows variable nomenclature for defining MS and its associated VAs.

Purpose of the Study:

• To evaluate existing definitions of Maffucci syndrome.
• To characterize vascular anomalies in MS patients according to ISSVA classifications.
• To address inconsistencies in MS nomenclature.

Main Methods:

• Systematic literature search of MEDLINE and Embase for articles on MS.
• Analysis of disease definitions for reported VAs.
• Review of case reports to identify diagnosed VAs in MS patients.

Main Results:

• Over 265 articles defined MS since 1950, with highly variable definitions.
• "Hemangioma" was often used nonspecifically, while only 2 articles used the ISSVA definition.
• Only 16% of patients had VAs matching specific ISSVA labels; 4% had venous malformations, and 11% had spindle-cell hemangiomas (SCHs) without venous malformations.

Conclusions:

• Inconsistent and outdated VA nomenclature hinders accurate MS definition.
• Adherence to modern ISSVA classification is recommended for clinicians and researchers.
• The presence of SCHs, even without venous malformations, may be diagnostic for MS.