Gorlin sign

Gorlin sign is a medical condition that is characterized by the ability of an individual to touch the tip of their nose with their tongue. This condition is named after Robert J. Gorlin, a geneticist and oral pathologist who first described it. Gorlin sign is often associated with Ehlers-Danlos syndrome, a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues.

Symptoms

The primary symptom of Gorlin sign is the ability to touch the tip of the nose with the tongue. This is due to an unusually long tongue (macroglossia) and/or a short upper lip. Other symptoms may include:

• Joint hypermobility
• Skin hyperelasticity
• Tissue fragility
• Increased bruising
• Chronic pain

Causes

Gorlin sign is often associated with Ehlers-Danlos syndrome, particularly the hypermobility type. This is a genetic disorder that affects the body's connective tissues. Mutations in specific genes lead to abnormal collagen structure and function, leading to the symptoms seen in this condition.

Diagnosis

Diagnosis of Gorlin sign is primarily based on the physical examination. A detailed medical history is also important to identify any potential genetic disorders that may be associated with this condition. Genetic testing may be recommended in some cases.

Treatment

There is no specific treatment for Gorlin sign. Management is focused on treating the underlying condition, if present, and managing symptoms. Physical therapy may be recommended to help manage joint hypermobility and prevent injury.

See also

• Ehlers-Danlos syndrome
• Joint hypermobility
• Macroglossia

References

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