Revesz syndrome

Revesz syndrome is a rare and severe variant of dyskeratosis congenita that typically starts in early childhood. People with this condition show changes in skin color (both hyperpigmentation and hypopigmentation), nail problems, and oral lesions, along with sparse and fine hair. In addition to these features, Revesz syndrome is marked by bilateral exudative retinopathy, which affects the eyes, and intracranial calcifications. There is also a high risk for bone marrow failure and a predisposition to developing cancer. These features together make the condition complex and serious.

Common signs in people with Revesz syndrome include skin changes such as areas of darker or lighter pigmentation, nail dystrophy, and oral white patches (leukoplakia). Other noticeable features are sparse and fine hair, bilateral exudative retinopathy which may impact vision, and intracranial calcifications. There is also a significant risk of bone marrow failure, which can affect blood cell production.

Revesz syndrome is linked to genetic changes, specifically involving the TINF2 gene. This gene is important for maintaining telomeres, the protective ends of chromosomes. Changes in this gene can lead to the development of the features seen in dyskeratosis congenita and its variants, including Revesz syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.