dyskeratosis

In the majority of cases dyskeratosis congenita is inherited.

Dyskeratosis congenita often affects multiple parts of the body.

They have been implicated in some hereditary disorders, such as dyskeratosis congenita.

Homozygous recessive individuals show the symptoms of dyskeratosis congenita in full.

However, in a large proportion of patients dyskeratosis congenita occurs sporadically, meaning that the parents do not show disease.

Dyskeratosis congenita, like Werner syndrome, results in premature aging and is considered a progeroid disease.

This condition may be seen in a number of syndromes, including Dyskeratosis congenita and Nail-patella syndrome.

Approximately 10% of individuals with dyskeratosis congenita will develop non-hematologic tumors, often prior to the third decade of life.

Dyskeratosis congenita.

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.

These mutations are also autosomal recessive with three specific single-nucleotide polymorphisms being recognized which result in dyskeratosis congenita.

Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia.

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 three different mutations result in a mild form of dyskeratosis congenita which uniquely follows an autosomal dominant pattern of inheritance.

Another example is the haploinsufficiency of telomerase reverse transcriptase which leads to anticipation in autosomal dominant dyskeratosis congenita.

Dyskeratosis congenita (DC) is a disease of the bone marrow that can be caused by some mutations in the telomerase subunits.

The crusty patches are also known as keratotic papules, keratosis follicularis or dyskeratosis follicularis.

Dyskeratosis congenita may be associated with leukoplakia of the oral mucosa and of the anal mucosa.

Cutaneous dyskeratosis (CD) is a shell disease of unknown origin and has unknown implications on desert tortoise populations.

Both upper respiratory tract disease and cutaneous dyskeratosis have caused precipitous population declines and die-offs across the entire range of this charismatic species.

Though the exact pathology of the disease is not yet fully understood, most evidence points to dyskeratosis congenita being primarily a disorder of poor telomere maintenance.

DKC (dyskeratosis congenita) patients are all characterized by the defective maintenance of telomeres leading to problems with stem cell regeneration.

When she was a year old, Ayelet Galena was diagnosed with dyskeratosis congenita of the HH variant.

Dyskeratosis congenita is congenital disease characterized by reticular skin pigmentation, nail degeneration, and leukoplakia on the mucous membranes associated with short telomeres.

Alter BP, Giri N, Savage SA, et al.: Cancer in dyskeratosis congenita.