It consists of a group of hereditary diseases of genetically heterogeneous origin, and some different types are described according to the genetic mutation shown. Most occurs through autosomal recessive inheritance and some mild forms have autosomal dominant inheritance. It is characterized by defects in DNA repair, showing abnormal sunlight sensitivity, with the development of precancerous […]
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Congenital epidermolysis bullosa (EB) is a group of potentially severe bullous diseases caused by mutations in some genes which encode proteins that are located in the skin and in mucous membranes. The blisters occur due to minimal trauma on the skin. Watch the video with the participation of Dr. Zilda Najjar Prado de Oliveira: Epidermólise […]
The term ichthyosis derives from the Greek word ichthys, which means fish, referring to the cutaneous scaling observed in this group of diseases. There are several types of ichthyosis, all of rare occurrence, and may be either congenital or acquired. Congenital ichthyoses are caused by different genetic mutations. These diseases affect the skin and, in […]
They comprise a complex group of diseases in which defects occur in at least two structures derived from the ectoderm: hair, teeth, nails and sweat glands, and may also be associated with anomalies of other organs. There are more than two hundred diseases described. Many are hereditary of variable genetic transmission, being autosomal dominant, autosomal […]
ACCEEPTING THE DISEASE IS THE FIRST STEP FOR A GOOD SOCIAL LIFE. When Augusto was Born, the doctors already knew it was ichthyosis. There was a psychological preparation and a sensitive approach by the professionals, who explained it was not a contagious disease. “My parents have always dealt with this. My mother, to this day, […]
How the love and dedication from the family can be fundamental to take care of the people with genodermatoses. Sidney was born in Teresina, Piauí. During his gestation, the doctors said everything was normal. However, his mother, Leila, suffred from high blood pressure and had other symptoms of malaise. He ended up being born full […]