From the Research
The Gorlin sign is a clinical finding where the skin of the elbows and knees becomes hyperextensible, allowing a person to touch their tongue to their elbow, and is characteristic of Ehlers-Danlos syndrome, particularly the hypermobility type. This sign is a result of abnormally elastic skin and hypermobile joints due to defective collagen, the protein responsible for providing strength and structure to tissues 1. When examining a patient, the ability to perform this unusual maneuver should prompt further evaluation for other signs of connective tissue disorders, such as:
- Skin hyperextensibility
- Easy bruising
- Joint hypermobility
- Tissue fragility While the Gorlin sign is not specific enough to make a diagnosis on its own, it serves as a useful clinical indicator that can help identify patients who may need genetic testing or referral to specialists for a comprehensive evaluation of possible Ehlers-Danlos syndrome or related connective tissue disorders 2, 3. It is essential to consider the Gorlin sign in the context of other clinical findings and to approach diagnosis with a comprehensive understanding of Ehlers-Danlos syndrome, as outlined in recent studies 4, 5.