Paula and Bobby
Parents of Lillie
Cafe-au-lait Spot

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 too. 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 covers 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.
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.
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. In this case fast, targeted genetic analysis can give you a more accurate diagnosis.
Synonyms:
Cafe-au-lait macules, Flat light-brown mark on skin, Cafe-au-lait spots, Birthmark, Cafe au lait spots, Cafe-au-lait macule
HPO:
Optional syndromes:
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Synonyms:
Cafe-au-lait macules, Flat light-brown mark on skin, Cafe-au-lait spots, Birthmark, Cafe au lait spots, Cafe-au-lait macule
HPO:
Optional syndromes:
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