Poikiloderma: causes, symptoms, diagnosis, treatment

Poikiloderma is a collective term, the essential signs of which are atrophy, spotted or reticular pigmentation and telangiectasia. At the same time, miliary lichenoid nodules, tender, thin scales and small petechial hemorrhages may occur.

Congenital poikilodermia occurs immediately after birth or in the first year of life. It includes Rothmund-Thompson syndrome, congenital dyskeratosis, Mende de Costa syndrome and other diseases. Acquired poikilodermia can occur under the influence of cold, thermal or ionizing radiation or as the outcome of some dermatoses - lupus erythematosus, scleroderma, parapsoriasis, skin lymphoma, red flat lichen, etc. Sometimes poikiloderma is a clinical manifestation of fungal mycosis.

Rothmund-Thompson syndrome is a rare hereditary disease, it occurs mainly in women. Inheritance is autosomal recessive, but autosomal dominant transmission is possible. The disease was first described by ophthalmologist A. Rotmund in 1868 as a cataract with a peculiar degeneration of the skin. Then, not knowing about the publication of Rothmund, M. Thompson in 1923 described identical skin manifestations in two sisters and called the disease "congenital poikilodermia." However, in his cases, the sisters did not have a cataract phenomenon. In 1957, V. Tyler proposed to combine these states into one nosological unit.

Causes. The pathological gene is located on the 8th chromosome. In some studies, a decrease in the reducing ability of DNA has been found, but in others this ability has not been detected.

Symptoms. At birth, the child's skin is normal. The disease occurs in 3-6 months, less often - at 2 years of life. In the beginning, there are erythema and swelling of the face, soon - areas of skin atrophy. Mesh hyperpigmentation and depigmentation with telangiectasias (poikilodermia), recalling manifestations of chronic radiation dermatitis. Skin changes except the face are localized on the neck, buttocks, limbs. In most patients photosensitivity to sunlight is increased. Bullous forms of dermatosis are described. There are changes in hair (hair on the head is rare, thin, brittle, alopecia is possible), nail dystrophy, dysplasia of teeth, early caries. Patients often lag behind in physical development. Often expressed hypogonadism, hyperparathyroidism. In 40% of patients, bilateral cataracts develop usually at the age of 4-7 years.

Poikilodermia, formed in childhood, remains for life. In the areas of poikiloderma with age, foci of keratosis or squamous cell carcinoma of the skin may occur.

Mesh pigmentary poikilodermia Sivatta. This form of poikiloderma was described in 1919 by Civatt.

Causes and pathogenesis have not been studied.

Symptoms. The defeat is manifested by the development on the skin of the face, neck, chest and upper extremities of the network-like bluish-brown pigmentation, which is mostly preceded by solar erythema and telangiectasia. In these places, small nodular eruptions of follicular keratosis are almost always visible, and later areas of subtle atrophy of the skin are noted.

Treatment is symptomatic. Protect yourself from sunlight. Use photo-protective creams, antioxidants, vitamins and in severe cases - aromatic retinoids.

[1], [2], [3], [4]