Dyskeratosis congenita [23 genes]

Dyskeratosis congenita is a rare disease classically defined by the triad of reticulated hyperpigmentation of the skin, dystrophic nails, and leukoplakia of the oral mucosa, together with hematological and immunological abnormalities resulting from bone marrow failure. At the skin level, patients also have an increased risk of suffering from squamous cell carcinoma.

Estimated at 1-9 / 1,000,000. More than 400 patients have been reported.

This service is recommended when the suspicion of the disease after the dermatological examination is high. Although some genes that may cause overlapping nail phenotypes have been included, other diseases that may cause signs of premature aging have not been incorporated into this panel. Therefore, it is recommended to request this service exclusively when suspicion of the disease is high. Otherwise, a broader approach is preferable, such as a whole exome directed by the patient’s clinical phenotype.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling to prevention and/or early detection of associated comorbidities in patients with congenital dyskeratosis.

Service indicated when the suspicion of congenital dyskeratosis after an expert dermatological evaluation is high.