Pigmented xeroderma
Pigmented xeroderma is a very rare disease that belongs to the group of hereditary skin diseases. Pigmented xeroderma manifests itself at the age of 2-3 years and is characterized by hypersensitivity to ultraviolet rays, which leads to pigmentation and subsequent atrophy of the skin. With age, the disease progresses even after a short stay in the sun. Ulceration, cracks, crusts, warty growths, benign, and subsequently malignant neoplasms appear on open areas of the body.
The content of the article:
Causes of pigmented xeroderma
Symptoms of pigmented xeroderma
Diagnosis of pigmented xeroderma
Treatment of pigmented xeroderma
Pigmented xeroderma
Causes of pigmented xeroderma
In the pathogenesis of pigment xeroderma lies a hereditary factor consisting in a defect in the enzyme UV-endonuclease, responsible for restoring the skin after exposure to sunlight or radiation. As a rule, the disease is the result of consanguineous marriage, which causes gene mutation and autosomal recessive or autosomal dominant inheritance of the disease.
Symptoms of pigmented xeroderma
As it was said, the disease manifests itself in the first years of a child’s life and becomes active in the summer, when he is exposed to active sunlight. However, in medical practice, about 20% of cases of the disease have been registered at the age of 15 to 65 years.
It should be noted that the pigment xeroderma is conditionally divided into five stages:
Erythematosis is the initial stage of the disease. The clinical picture is characterized by skin rashes, red spots, swelling in open areas of the body after a short exposure. Sometimes the rash has a vesicular structure (vesicles) and is localized in groups on those parts of the body that were exposed to sunlight;
Hyperpigmentation is the next stage of the development of the disease, characterized by a change in the color of skin spots. At the site of rashes and redness, pigmentation appears from light to dark brown. Visually, this symptom can be compared with freckles;
Atrophy of the injured skin is a consequence of the two previous stages. Symptoms of pigmented xeroderma at this stage are characterized by atrophic processes at the sites of inflammation and, as a result, dryness and thinning of the epidermis appear. One of the signs of skin atrophy is the formation of smooth scars on the affected areas, which can lead to microstomy (reduction of the contour of the mouth), atresia (overgrowth) of the nostril canals, thinning of the auricles and wings of the nose. In addition, 80% of patients in the period of exacerbation suffer from conjunctivitis, damage to the cornea and mucous membrane of the eye;
The hyperkeratic stage involves the appearance of neoplasms on the affected skin foci. Pathology manifests itself in the form of papillomas, hard nodules up to 2 cm in size, warty generations, benign formations consisting of fibrous and vascular connective tissue. Over time, pathological altered cells can acquire the properties of a malignant tumor. That is why experts attribute the pigment xeroderma to the group of precancerous diseases;
The stage of malignant tumors usually occurs 12-15 years after the activation of the disease. However, sometimes oncology develops already in the first years of the disease. Neoplasms in the form of basal cell carcinoma, melanoma, sarcoma can metastasize into the internal organs of the patient in a short time, which often leads to death.
In some cases, pigmented xeroderma has neuralgic manifestations in the form of Reed and Sanctis-Caccione syndromes.
Reed’s syndrome against the background of the underlying disease is characterized by a slowdown in the growth of the bone skeleton and microcephaly (a decrease in the size of the skull), accompanied by mental retardation.
Sanctis-Caccione syndrome does not stand out as an independent disease, but is one of the components of the clinical picture of pigmented xeroderma and has the following symptoms:
the development of skin pathology characteristic of this disease;
early appearance of malignant neoplasms.
Against this background , there are:
spastic paralysis;
microcephaly and dementia;
congenital and skeletal deformities;
underdevelopment of the ovaries in girls and testes in boys;
frequent miscarriages in childbearing age;
recessive way of transmission of the disease by inheritance.
The primary symptoms of pigmented xeroderma are in many ways similar to the signs of other skin diseases, which is why it is so important to identify the disease in time and take the necessary measures to prevent and stop the disease.
Diagnosis of pigmented xeroderma
To determine the pathology, a specialist prescribes a histological examination. At the initial stage, the analysis shows atrophy and thinning of the affected areas of the epidermis, inflammatory infiltration of the upper layer of the skin, an increase in melanin granules in the cells of the base of the epidermis, a change in the structure and breakdown of collagen fibers. At the stage of tumor formations, histology determines the signs inherent in skin cancer.
To make a final verdict, specialists use the method of differential diagnosis, which makes it possible to distinguish pigmented xeroderma from other dermatological diseases. Pigmented urticaria, spotted scleroderma, smallpox-shaped hydroa, chronic dermatitis, poikiloderma and Bazin’s disease have a number of common signs with xeroderma.
Treatment of pigmented xeroderma
The therapy of the disease depends on the severity of certain symptoms and is more aimed at removing the skin inflammatory process. For example, antimalarial drugs (plaquenil, delagil, resohin, etc.) inhibit the depolymerization process, weakening the skin’s susceptibility to sunlight. These drugs have anti-inflammatory and hyposensitizing properties. Doctors suggest conducting general therapy simultaneously with vitamin therapy (B1, B2, B6, B12, A, PP, E). Antihistamines (diphenhydramine, tavegil, suprastin) and medications that prevent or weaken allergic reactions (sodium thiosulfate, intravenous calcium chloride) are recommended during the exacerbation of pigmented xeroderma.
At the stage of tumor formations, liquid nitrogen, laser beam treatment and surgical removal of pathological skin generations are used.
Sunscreens, sprays and ointments should be used as a prophylaxis of pigmented xeroderma in the season of active sun.
