Which of the following conditions associate with increased cafe au lait pigmentation?

Get ready for the American Board of Genetic Counseling exam. Prepare with flashcards and multiple choice questions, each question includes hints and explanations. Ace your exam with confidence!

Cafe au lait pigmentation is a condition characterized by light brown skin spots, commonly seen in several genetic disorders. Among the conditions listed, Neurofibromatosis type 1 (NF1) is most well-known for its association with cafe au lait spots. Individuals with NF1 often present with multiple cafe au lait macules, which are one of the major diagnostic criteria for the syndrome.

In NF1, these spots typically appear during early childhood, and their presence is strongly indicative of the disorder when there are six or more with a diameter greater than 5 mm in prepubertal children or greater than 15 mm in postpubertal individuals. The presence of these spots, along with other clinical features such as neurofibromas, axillary freckling, and Lisch nodules, helps in making a diagnosis.

Other conditions listed, such as Gaucher disease, Marfan syndrome, and Sotos syndrome, do not have a strong association with cafe au lait spots as a characteristic feature. While individuals with these conditions may have other types of skin changes or pigmentation variations, they do not typically display the specific cafe au lait macules commonly associated with NF1. Thus, the correct answer emphasizes the strong connection between cafe au lait pigmentation and Neuro

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