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NORD is very grateful to the following for assistance in the preparation of this report: Monica Bessler, MD, PhD, Philip J. Mason, PhD, and David B. Wilson, MD, PhD, Departments of Internal Medicine and Pediatrics, Washington University School of Medicine.
Synonyms of Dyskeratosis Congenita
- dysfunctional telomere maintenance
- dyskeratosis congenita syndrome
- short telomere disease
- dyskeratosis congenita, autosomal dominant, Scoggins type
- dyskeratosis congenita, autosomal recessive
- dyskeratosis congenita, X-linked, Zinsser-Cole-Engleman syndrome
- Hoyeraal-Hreidarsson syndrome
- Revesz syndrome
Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First described in the medical literature in 1906, dyskeratosis congenita was originally thought to be a skin disease that also affects the nails and the mouth. Only later in the sixties was it realized that patients with these skin changes almost always develop bone marrow failure. Thus, for the last 40 years or so, the bone marrow failure syndrome dyskeratosis congenita was diagnosed when patients presented with the triad of abnormal skin, malformation (dystrophy) of the nails, and white, thickened patches on the mucous membranes of the mouth (oral leukoplakia). The skin changes may be present before the development of bone marrow failure. Bone marrow failure is usually diagnosed by the low number of circulating blood cells including red blood cells, white blood cells, and platelets. Additional findings in patients with dyskeratosis congenita may include short stature, eye and tooth abnormalities, thin and early graying of the hair, lung (pulmonary) disease, liver disease, gut abnormalities, bone thinning (osteoporosis), infertility, learning difficulties, and delays in reaching developmental milestones. An increased incidence of leukemia and cancer has also been documented.
Today, in addition to examining the skin, nails, and mouth for these classical changes, we also use other tests to diagnose dyskeratosis congenita including testing for the genetic abnormality responsible for the development of the disease. Using these more sensitive tests, we are beginning to realize, that only a minority of patients with the genetic abnormality actually develop the full clinical picture of dyskeratosis congenita as outlined above. We find that there are many more individuals with the genetic abnormality (mutation) who have only a mild form of the disease. Often these individuals may only show one or two of the clinical features and these only become obvious, late in life. Some never develop the classic skin abnormalities that coined the name of the disease. Whether the disease in these patients in the absence of skin manifestations should also be labeled with dyskeratosis congenita is controversial and often these individuals are referred to as having atypical dyskeratosis congenita. There are even individuals carrying the mutation who will never develop disease, however their children or grandchildren might. These individuals are often referred to as silent mutation carriers. This new knowledge is important for physicians and patients because much of what has previously been published about this disease may actually not apply anymore for all individuals newly diagnosed with dyskeratosis congenita. In addition to the many more mild manifestations of this disease we also realize that there are some rare but very severe forms of dyskeratosis congenita. These were previously known as the Hoyeraal-Hreidarsson syndrome and the Revesz syndrome but today we know that they have the same underlying abnormality and are caused at least in part by mutations in the same genes responsible for dyskeratosis congenita. These severe forms manifest early in life and are associated with additional clinical features that are usually not present in other forms of dyskeratosis congenita (see also below).
In the majority of cases dyskeratosis congenita is inherited. The pattern of inheritance may be X-linked (Zinsser-Cole-Engleman syndrome), autosomal dominant (dyskeratosis congenita, Scoggins type) or autosomal recessive. However, in a large proportion of patients dyskeratosis congenita occurs sporadically, meaning that the parents do not show disease. In some patients with sporadic DC the genetic abnormality may have newly arisen (de novo mutation) and therefore is not present in either parent.
Dyskeratosis Congenita Resources
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