BLOCH-SULZBERGER SYNDROME (CLINICAL CASE)

Abstract

Bloch-Sulzberger syndrome is a rare genodermatosis or pigment incontinence syndrome found in the first weeks of life. The syndrome belongs to the group of systemic melanoblastoses. Its frequency is 1 in 10000 girls or 1 in 75000 newborns. Girls are almost exclusively ill, since the development of pathology is associated with the X chromosome, the gene mutation is fatal for male fetuses. This dermatosis is characterized by a combination of cutaneous and extracutaneous abnormalities. Extracutaneous changes are manifested by abnormalities of the teeth, hair, nails, organs of vision, central nervous system, as well as the cardiovascular system, musculoskeletal system and urinary system. Eye changes occur in 35-77 % of patients, including the presence of avascular areas of the retina, dilated and convoluted vessels (with initial changes), traction changes in retinal vessels in the posterior pole of the eye and macular ectopia, as well as vitreoretinal proliferation at the border with the avascular retina. A clinical case of Bloch-Sulzberger syndrome in a newborn girl is given as an example.

Keywords

• синдром блоха-сульцбергера
• меланобластоз
• глазные проявления