Poikiloderma: causes, symptoms, diagnosis, treatment

Poikiloderma is a collective term, the essential features of which are atrophy, spotty or reticular pigmentation, and telangiectasia. Miliary lichenoid nodules, delicate, thin scales, and small petechial hemorrhages may be present.

Congenital poikiloderma 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 poikiloderma can occur under the influence of cold, thermal or ionizing radiation or as a result of some dermatoses - lupus erythematosus, scleroderma, parapsoriasis, skin lymphoma, lichen planus, etc. Sometimes poikiloderma is a clinical manifestation of mycosis fungoides.

Rothmund-Thompson syndrome is a rare hereditary disease, occurring predominantly in women. Inheritance is autosomal recessive, but autosomal dominant transmission is possible. The disease was first described by ophthalmologist A. Rothmund in 1868 as cataract with a peculiar degeneration of the skin. Then, unaware of Rothmund's publication, M. Thompson in 1923 described identical skin manifestations in two sisters and called the disease "congenital poikiloderma". However, in his cases, the sisters did not have cataracts. In 1957, W. Tyler proposed combining these conditions into one nosological unit.

Causes: The abnormal gene is located on chromosome 8. Some studies have found a decrease in DNA regenerative capacity, while others have not found this capacity.

Symptoms. At birth, the child's skin is normal. The disease occurs at 3-6 months, less often - at 2 years of age. Initially, erythema and swelling of the face appear, soon - areas of skin atrophy. reticular hyperpigmentation and depigmentation with telangiectasias (poikiloderma), resembling the manifestations of chronic radiation dermatin. Skin changes in addition to the face are localized on the neck, buttocks, limbs. Most patients have increased photosensitivity to sunlight. Bullous forms of dermatosis have been described. Hair changes are noted (hair on the head is sparse, thin, brittle, alopecia is possible), nail dystrophy, dental dysplasia, early caries. Patients often lag behind in physical development. Hypogonadism and hyperparathyroidism are often expressed. In 40% of patients, bilateral cataracts usually develop at the age of 4-7 years.

Poikiloderma, having formed in childhood, remains for life. In poikiloderma areas, foci of keratosis or squamous cell skin cancer may appear with age.

Civatte's reticular pigment poikiloderma. This form of poikiloderma was described in 1919 by Civatte.

The causes and pathogenesis have not been studied.

Symptoms. The lesion manifests itself by the development of a reticular bluish-brown pigmentation on the skin of the face, neck, chest and upper extremities, which is usually preceded by solar erythema and telangiectasia. In these same places, small nodular rashes of follicular keratosis are almost always visible, and later, areas of barely noticeable skin atrophy are noted.

Treatment is symptomatic. It is necessary to protect yourself from sun rays. Use sunscreen creams, antioxidants, vitamins and, in severe cases, aromatic retinoids.

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