Xeroderma pigmentosa, atrophoderma pigmentosa, melanosis lenticular progressing
Jun 17, 2018
This is an extremely rare hereditary disease that is characterized by increased sensitivity to ultraviolet rays, darkening and thinning of the skin, photophobia and other changes on the part of the eyes. A part of people suffering from this disease have a lesion of the nervous system, which causes the appearance of characteristic manifestations, depending on the level of damage to the nervous system. The disease proceeds with constant progression. There is a very high risk of developing skin tumors caused by exposure to ultraviolet radiation. In most cases, pigment xeroderma is inherited by autosomal recessive type. There is evidence of the possibility of autosomal dominant inheritance, as well as the assumption of partial adhesion of the disease to the sex.
The earliest symptoms are inflammatory changes in the skin under the influence of solar radiation, developing even with brief exposure to the sun, photophobia, lacrimation and conjunctivitis. They often develop during the period of newborn or in early childhood, but they can also appear later - in the second decade of life. The median age of onset is 1-2 years. Shortly after the appearance of the first signs, at about 2 years of age, there are pigment spots like freckles and multiple freckles, at first the most abundant in the open areas of the body. Over time, a picture similar to chronic radiodermatitis develops - dry skin, widening of the blood vessels of the skin, increased keratinization of the skin and its thinning, foci of increased density, depigmentation can form. As a rule, there are various disfiguring consequences: small sizes of the mouth slit, narrowing of the holes of the nose, turning out the edges of the eyelids, thinning of the ears and the tip of the nose. At the majority already at the childhood the benign skin tumors develop, the malignant neoplasms with the fast progressing current, metastasis and the lethal outcome at the age of 10-15 years are less often formed.
In addition to photophobia and conjunctivitis, a variety of eye injuries, opacity and ulceration of the cornea, and other eye changes, including tumors, can develop in individuals with the disease under consideration. With this disease people look much older than their age. There may be a slowdown in growth, underdevelopment of the genital organs, some have nervous system disorders, in particular mental development up to idiocy, small brain size, impaired coordination of movements, progressive deafness.
Treatment. A prerequisite is to limit exposure to sunlight, the use of photoprotective agents, the use of antioxidants( vitamins C, E), stimulants of the immune system( interferon), early removal of tumors, and the taking of prophylactic retinoids( tigazone).Characteristic signs for the detection in families of carriers of this hereditary disease can be: increased pigmentation of open areas of the body by the type of freckles and increased sensitivity to sunlight. Prenatal diagnosis is possible by examining the cells of the amniotic fluid.