NF1, or neurofibromatosis type 1, is a genetic disorder that can cause distinctive skin pigmentation changes. One of the most common signs of NF1 is the presence of café au lait spots, which are flat, light to dark brown birthmarks that can appear anywhere on the body. These spots are usually present at birth or develop early in childhood. Other skin pigmentation features associated with NF1 include:
- Axillary freckling: Clusters of small, dark freckles that appear in the armpits.
- Inguinal freckling: Clusters of small, dark freckles that appear in the groin area.
- Diffuse skin hyperpigmentation: A generalized darkening of the skin, often described as a slight gray discoloration.
These skin pigmentation changes are caused by a mutation in the NF1 gene, which plays a role in the development of melanocytes, the cells that produce melanin, the pigment responsible for skin color.
The skin pigmentation features of NF1 are usually harmless and do not cause any discomfort. However, they can be a helpful diagnostic indicator for the condition.
