Nevi flammei, familial multiple

Familial Multiple Nevi Flammei is a rare genetic disorder characterized by the presence of multiple nevus flammeus or port-wine stains on the skin. These are congenital vascular malformations that typically appear as flat, pink, red, or purple marks. The condition is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.

Causes and Genetics

Familial Multiple Nevi Flammei is caused by mutations in specific genes, although the exact genes involved may vary among families. The condition is autosomal dominant, which implies that it can be passed from one affected parent to their child with a 50% chance of inheritance. The genetic mutation leads to abnormal development of blood vessels, resulting in the characteristic port-wine stains.

Symptoms

The primary symptom of Familial Multiple Nevi Flammei is the presence of multiple port-wine stains. These marks can vary in size and are usually present at birth or develop shortly thereafter. While they can occur anywhere on the body, they are most commonly found on the face, neck, arms, and legs. Unlike some other types of birthmarks, nevus flammeus does not fade over time and may even become darker or more pronounced.

Diagnosis

Diagnosis of Familial Multiple Nevi Flammei is primarily based on the clinical presentation of multiple port-wine stains and a family history of the condition. Genetic testing may be offered to confirm the diagnosis and identify the specific mutation, although this is not always necessary for diagnosis.

Treatment

There is no cure for Familial Multiple Nevi Flammei, but treatments are available to lighten the port-wine stains. Laser therapy, particularly with pulsed dye lasers, is the most common treatment and can reduce the color intensity of the marks. Multiple sessions are usually required, and the effectiveness can vary depending on the age of the patient and the characteristics of the nevus flammeus.

Prognosis

The prognosis for individuals with Familial Multiple Nevi Flammei is generally good, as the condition primarily affects the skin and does not typically lead to serious health problems. However, the cosmetic appearance of the port-wine stains can be a significant concern for some individuals, potentially leading to psychological and emotional issues.

See Also

• Nevus flammeus
• Genetic disorder
• Vascular malformation
• Laser therapy