Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome (ES), is defined by dull, silvery hair, bronze staining of the sun-exposed skin, and severe neurological deficits in the patients. In addition, eye anomalies have been frequently observed in about 20 cases.
The syndrome is either congenital or manifests in childhood. Hair samples show clumps of melanin in the microscope, while the melanocytes in the skin show irregularly shaped melanosomes. In the firbroblasts, bone marrow histiocytes, and lymphocytes, abnormal inclusion bodies can be detected on close inspection.
The exact cause of the disease could not be determined so far, only parallels to other diseases such as the Griscelli syndrome could be drawn. The life expectancy of sufferers is unfortunately not very high due to the severity of the neurological disorders.
The syndrome is either congenital or manifests in childhood. Hair samples show clumps of melanin in the microscope, the melanocytes in the skin have irregularly shaped melanosomes. In the firbroblasts, bone marrow histiocytes, and lymphocytes, close examination reveals abnormal inclusion bodies.
The exact cause of the disease could not be determined so far, only parallels to other diseases such as the Griscelli syndrome could be drawn. The life expectancy of sufferers is unfortunately not very high due to the severity of neurological disorders.