Symptom 5: Unusual Hair and Skin – Signs on the Surface
Cystinosis also leaves its mark on the body’s surface, particularly the hair and skin. The presence of cystine crystals in the skin can lead to hypopigmentation, resulting in a lighter skin color compared to the child’s parents or siblings.
Similarly, cystinosis can affect hair color and texture. This can lead to lighter, sometimes even silvery hair, which is often brittle and breaks easily. The hair’s unusual appearance is due to the accumulation of cystine crystals, which can disrupt the normal hair growth cycle.
Changes in hair and skin may seem purely cosmetic. However, they are critical signs pointing to an underlying systemic disease. These changes can often be the first visible signs of cystinosis, making them significant in the early identification of the disease.
While there is currently no cure for these changes, they can be managed with proper care and attention. Skin should be protected from excessive sun exposure, and hair should be treated gently to prevent further damage.
Changes in hair and skin are visible signs of cystinosis. Recognizing these changes is key to early detection, leading to earlier intervention and better outcomes. (5)
