Phacomatoses are a rare group of diseases that affect the nervous system and manifest as 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 conditions are very characteristic and allow the course of the disease to be defined, which is of key importance for the therapeutic process.
Von Hippel-Lindau syndrome
The disorder von Hippel-Lindau syndrome is a retinoblastoma. It is a disorder that occurs rarely - 1:36,000 births - and is also inherited in an autosomal dominant manner, but is characterised by variable penetrance and delayed expression. The disorder is the result of mutational changes in germinal cell lineages [3], i.e. primary germ cells [4]. The course of the condition represents an increased risk of renal or CNS malignancies, and sufferers are diagnosed with multiple tumours, usually developing multifocally and bilaterally. The age at which the neoplastic lesions appear is also a characteristic feature - they usually occur in young people and are usually located in the cerebellum, spinal cord, retina and kidneys, as well as the adrenal glands, which are characteristic of the syndrome [3].
The main clinically observable symptoms include orthostatic hypotonia, persistent or intermittent hypertension, fainting, drenching sweats, headaches and dizziness, palpitations, nausea, anxiety, abdominal pain and a tendency to hyperglycaemia [3].
Klippel-Trénaunay-Weber syndrome
For this congenital disorder, a triad of les ions - vascular nevi, varicose veins, and bone and soft tissue hypertrophy - is very characteristic. Typically, varicose or subcutaneous vascular lesions are the first to appear, which can be very confusing and pose many diagnostic difficulties. In the course of the disease, parathyroid adenomas may appear, which is probably the reason for the hyperparathyroidism, a symptom that often occurs during the course of the disease [3].
Despite the rarity of phacomatosis, the problem of co-occurrence of endocrine tumours is of great importance from a diagnostic point of view [3].
