Phacomatoses are a rare group of diseases that affect the nervous system and manifest with skin lesions. They are inherited diseases, so their basis is genetic, and they are associated with numerous multiorgan tumours, hence the importance of knowledge of phacomatoses in the diagnostic process. The skin changes that occur in the course of these diseases are very characteristic and allow the course of the disease to be defined, which is of key importance for the therapeutic process.
Despite the neuroectodermal origin of the lesions in phacomatoses, they do not only affect organs of ectodermal origin - they can also affect the other germ leaves, but this does not change the fact that the first basic diagnostic criterion is the quantification of the lesions in the nervous system (and more specifically in the peripheral nerves) and in the brain. This usually refers to the number of observed neurofibromas derived from Schwann cells and fibroblasts [3].
Tumours in phakomatoses
Numerous neoplastic lesions appearing in many organs, including the glands responsible for endocrine function, are diagnosed in phacomatoses - the most commonly observed include tumours of the hypothalamus and the glandular part of the pituitary gland.
Lymphoid tumours, whose location is the adrenal medulla, are the second most common. They also originate in the neuroectodermal area and have links to both the neural tube and the adrenal medulla.
Others, but less frequent and less frequently diagnosed, include neoplastic lesions of endocrine origin - these include tumours of the thyroid gland, parathyroid gland, pancreatic islands or carcinomas [3].
