Xeroderma pigmentosum , atrophoderma pigment , melasma lenticular progressive

August 12, 2017 17:52 | Genetic Diseases

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

so occur later - in the second decade of life.The average age of onset - 1-2 years.Shortly after the first signs, about 2 years of age, there are dark spots such as freckles and numerous freckles, beginning most abundant in open areas of the body.Over time, developing a picture similar to chronic radiodermatitom, - dry skin, dilation of blood vessels in the skin, improve skin and actinic thinning, may form pockets of high density, depigmentation.As a rule, there are various disfiguring consequences: the small size of the mouth slit, narrowing the nasal openings to evert the edges of the eyelids, ears and thinning of the nasal tip.The majority already in childhood develop benign skin tumors, less often formed malignant neoplasms with a rapid progressive course, metastases and death at the age of 10- 15 years.

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.