Gougerot-Blum Syndrome

Gougerot-Blauman syndrome is a rare genetic disease that is characterized by the accumulation of pigments in the skin and mucous membranes, as well as in other tissues. The disease is caused by a mutation in the UVBT gene, the main gene regulating melanin synthesis. At the same time, the body cannot properly absorb tyrosine, which is the main ingredient of melanin, which leads to its excess accumulation in the skin.

Signs of the disease include a macular or papular rash on the face and body, and sometimes on the mucous membranes of the mouth, larynx and genitals. Pigmentation of the eyelids, lips, cheeks, chin and tip of the nose is often observed. Pigmentation takes on different shades - from red to brown. Additionally, the disease can manifest itself as hyperpigmentation of the skin, impaired pigmentation of the hair, hairline and iris of the eyes.

Clinical symptoms of the disease mainly occur during

Gougerot-Blum syndrome is a degenerative process of the skin caused by aplasia of the sweat glands, due to underdevelopment of the hair follicles and sweat glands on the body and, more dramatically, the terminal phalanges of the fingers, which was described in 1899 by the French dermatological school