Familial multiple cafe-au-lait spots

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Familial multiple café-au-lait spots is a genetic condition characterized by the presence of multiple café-au-lait spots on the skin. These spots are light brown in color and can vary in size and shape. The condition is often inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is sufficient to cause the disorder.

Clinical Features

Individuals with familial multiple café-au-lait spots typically present with several café-au-lait macules, which are flat, pigmented birthmarks. These spots are usually present at birth or appear during early childhood. The number of spots can increase with age.

Genetics

The condition is often associated with mutations in the NF1 gene, which is responsible for producing a protein called neurofibromin. Neurofibromin acts as a tumor suppressor, helping to regulate cell growth and division. Mutations in this gene can lead to the development of multiple café-au-lait spots and other features of neurofibromatosis type 1 (NF1).

Diagnosis

Diagnosis of familial multiple café-au-lait spots is primarily based on clinical examination. The presence of six or more café-au-lait spots larger than 5 mm in prepubertal individuals or larger than 15 mm in postpubertal individuals is a key diagnostic criterion. Genetic testing can confirm mutations in the NF1 gene.

Differential Diagnosis

The condition must be differentiated from other disorders that present with café-au-lait spots, such as:

• Neurofibromatosis type 1
• Legius syndrome
• McCune-Albright syndrome
• Noonan syndrome

Management

There is no specific treatment for familial multiple café-au-lait spots. Management focuses on regular monitoring for potential complications, such as the development of neurofibromas or other tumors associated with NF1. Genetic counseling is recommended for affected families.

Prognosis

The prognosis for individuals with familial multiple café-au-lait spots varies depending on the presence and severity of associated conditions like NF1. Regular follow-up with a healthcare provider is essential for early detection and management of complications.

See Also

• Café-au-lait spot
• Neurofibromatosis type 1
• Genetic disorders
• Skin pigmentation disorders

External Links

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