What is a Cafe-au-lait spot (light brown birthmark)?
Named for the French word for milk coffee, a single cafe-au-lait spot or light brown birthmark, may not suggest any particular syndrome or problem with an individual.
However multiple cafe-au-lait spots may be indicative of a specific genetic syndrome or rare disease.
Understanding skin-related symptoms and features
Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome.
Skin is a part of the integumentary system of the body, a system that includes not only skin but also hair and nails. The integumentary system acts to protect our body from external threats or injury.
Generally, symptoms affecting the skin can be seen with the eye. Although diagnosing a skin-related symptom may involve different tests and assessments, both subjective and objective.
Symptoms relating to the skin may be temporary or permanent and cover conditions including rashes, hives, lesions, and discoloration. They may affect the tone, texture, and appearance of the skin in different ways. They may also cause some level of discomfort, including itching and or some level of pain.
Light Brown Skin Patches: Café-au-lait spots are flat, oval-shaped patches of light brown skin, varying in size and often appearing during early childhood.
Potential Indicator of Genetic Conditions: Multiple or large café-au-lait spots may be associated with underlying genetic disorders, such as neurofibromatosis type 1 (NF1).
What should I do next?
In some instances, a cafe-au-lait spot may be one of the features of a rare disease or genetic syndrome. To find out if someone with Cafe-au-lait Spot, may be due to a genetic syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.