Xeroderma pigmentosum , atrophoderma pigment , melasma lenticular progressive
This is an extremely rare inherited disorder characterized by an increased sensitivity to ultraviolet rays, and a darkening of the skin thinning, photophobia and other changes on the part of the eye.In some of the people suffering from this disease, there is nerve damage that causes the characteristic manifestations, depending on the level of damage to the nervous system.The disease occurs with a constant progression.There is a very high risk of developing skin cancer due to exposure to ultraviolet radiation.In most cases, xeroderma pigmentosum is inherited in an autosomal recessive manner.There is evidence of the possibility of autosomal dominant inheritance, as well as the assumption of partial coupling of the disease with the floor.
The earliest symptoms are inflammatory changes in the skin under the influence of solar radiation, developing, even after brief picked up under the sun, photophobia, lacrimation and conjunctivitis.They often develop in the neonatal period or in early childhood, but can al
addition photophobia and conjunctivitis, patients with this disorder may develop a variety of eye damage, blurred and ulceration of the cornea and other eye changes, including tumor.In this disease people look much older than his age.There may be a slowdown in growth, hypoplasia of the genitals, some marked disorders of the nervous system, in particular the violation of intellectual development up to the idiocy, the small size of the brain, the coordination of movements, progressive deafness.
treatment. prerequisite is to limit exposure to the sun, use sunscreen agents, the use of antioxidants (vitamins C, E), stimulators of the immune system (interferon), early removal of tumors, receiving prophylactic retinoids (tigazon).Characteristic features for detecting carriers in families with this hereditary disease are: increased pigmentation of the body exposed areas by type of freckles and increased sensitivity to sunlight.Possible prenatal diagnosis by examining amniotic fluid cells.