Dyskeratosis congenita synonyms
What other names are the Dyskeratosis congenita known by? Synonyms and other terms with which Dyskeratosis congenita is known.
Dyskeratosis congenita, also known as Zinsser-Cole-Engman syndrome, is a rare genetic disorder characterized by a triad of clinical features: abnormal skin pigmentation, nail dystrophy, and leukoplakia. This condition primarily affects the skin, nails, and mucous membranes, but it can also lead to various systemic complications.
Abnormal skin pigmentation is one of the hallmark signs of dyskeratosis congenita. It presents as irregular patches of hypo- or hyperpigmentation on the skin, particularly on the neck, chest, and face. These pigmentation abnormalities may develop during infancy or early childhood.
Nail dystrophy is another characteristic feature of dyskeratosis congenita. It involves the progressive destruction and deformity of the nails. Affected individuals may experience thinning, ridges, splitting, or complete loss of nails. Nail abnormalities can be present at birth or develop later in life.
Leukoplakia refers to the formation of white patches on the mucous membranes, such as the inside of the mouth, throat, and genitalia. These patches are caused by the abnormal growth of cells and can increase the risk of developing cancer in affected areas.
In addition to the triad of clinical features, dyskeratosis congenita can lead to various systemic complications. These may include bone marrow failure, which can result in anemia, bleeding problems, and an increased susceptibility to infections. Other potential complications involve pulmonary fibrosis, liver disease, and an increased risk of certain cancers.
Dyskeratosis congenita is a genetic disorder caused by mutations in several genes involved in telomere maintenance, which are the protective caps at the ends of chromosomes. These mutations lead to impaired telomere function, resulting in accelerated cellular aging and tissue degeneration.
Early diagnosis of dyskeratosis congenita is crucial for appropriate management and surveillance of potential complications. Treatment options focus on addressing specific symptoms and may include regular monitoring, blood transfusions, bone marrow transplantation, and supportive care.
