Brandt Syndrome

Brandt's syndrome, or xeroderma pigmentosum (syn.: Kostman-Gachet-Heerkens-van Anssell syndrome, koilonychia, pigmentary keratosis, exfoliative keratosis) is a rare genetically heterogeneous group of rare multisystem diseases characterized by a syndrome of atypical hyperpigmentation and skin hypersensitivity to ultraviolet radiation.

Typically, the disease occurs as a result of a somatic mutation of both alleles of the OCA2 gene, which encodes tyrosine synthase, which causes premature cessation of the work of telomeric proteins that ensure the development of the retinal pigment epithelium through a connection with the visual pigment rhodopsin. With Kostmann-Gescher syndrome, normal melanin synthesis is disrupted, melanin is distributed unevenly, so the face, limbs, and pubic area are subject to intense pigmentation. When these areas are irradiated by the sun's rays, a sunspot is formed - a flaky, dry, red plaque against a background of tanned or freckled skin. Skin pigmentation intensifies when the skin is damaged by sharp edges of objects (an overgrown edge of a nail plate or callus), or strongly stretched and tight textiles. Perhaps the cause of inflammation of the epidermal (keratinocytes) and melanocytes of the hair root remains unclear, it is believed that the pigmentation is not associated with a lack of hair proteins - cystine, but the study of the DCT gene in recent years has shown that it may contribute to the development of the kerotene skeleton. It is also believed that the syndrome is associated with a mutation in the LACC1 gene, which is responsible for the metabolism of lipofuscin (“aging pigment”) in tissues. Probably another one