2. Pigmentation and Immune Dysfunction: The Dual Impact of CHS
Partial albinism is a striking symptom of CHS. It results from the disrupted melanin production caused by the LYST gene mutation. This condition affects the coloring of the skin, hair, and eyes, often noticeable from birth.
The immune system suffers significantly in CHS. Patients frequently experience severe infections. This vulnerability stems from the dysfunction in immune cell operations, a direct result of the genetic mutation.
The link between pigmentation anomalies and immune dysfunction is complex yet critical. Both arise from the same genetic mutation, illustrating the multifaceted nature of CHS and its systemic implications.
Treating CHS involves addressing both pigmentation issues and immune deficiencies. Management strategies include protective measures against infections and, in some cases, treatments to stabilize pigmentation. Each patient requires a tailored approach based on the severity of their symptoms. (2)
