Phakomatosis

Phakomatosis (phacomatosis; from the Greek words phakos - “birthmark” and -oma - “tumor”) is a group of congenital diseases characterized by the presence of tumor-like formations of the skin.

Phakomatoses include:

1. Neurofibromatosis (Recklinghausen's disease) is characterized by multiple neuromas along the nerve trunks and neurofibromas of the skin.

2. Tuberous sclerosis (Pringle-Bourneville disease) - manifests itself as nodular formations in the brain, heart, kidneys, and adenomas of the sebaceous glands.

3. Sturge-Weber syndrome affects the skin of the face, meninges and eyes.

4. Ataxia-telangiectasia (Louis-Bar syndrome) - combines progressive cerebellar ataxia and telangiectasia.

Thus, phakomatoses are a group of hereditary diseases manifested by skin tumors and damage to internal organs.

Phakomatoses are genetically determined syndromes characterized by a wide range of anomalies and malformations of the skin and subcutaneous tissue. Hereditary skin diseases are phenotypically very diverse: this is manifested by the presence of various types of skin formations in the form of pigment spots of the “facing mass”, polypoid growths