A recent study showed that 3 of 20 female carriers had such clinical features as a single dystrophic nail, a patch of hypopigmentation, or mild leukoplakia. The inheritance pattern of most cases of DKC is X-linked recessive, but autosomal dominant and recessive patterns have been reported. In a registry of 70 families, only 9 families had affected females, and these 9 most likely represent the autosomal form of this disease. Specific tests will depend on the clinical findings and may include a CBC, chest X-ray, pulmonary function testing, and stool testing for occult blood. Elevated von Willebrand factor levels have been associated with fatal vascular complications after bone marrow transplantation and may be a marker for patients with a predisposition for endothelial deterioration.
Several reports exist of x-ray studies showing calcification of the basal ganglia.
A skin biopsy from the areas of reticulated pigmentation typically shows mild hyperkeratosis, epidermal atrophy, telangiectasia of the superficial blood vessels, and melanophages in the papillary dermis. Interface changes also have been reported, with mild basal layer vacuolization and a lymphocytic inflammatory infiltrate in the upper dermis. The success rate of BMT is lower than with Fanconi anemia due to the high incidence of fatal pulmonary complications, which most likely are a result of preexisting pulmonary disease in these patients. The best candidates for BMT may be patients with sibling donors and with no preexisting pulmonary disease. In the future, dyskeratosis congenita may be a candidate for hematopoietic gene therapy.