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Pediatr Dermatol. 2011 Jul-Aug;28(4):464-6. doi: 10.1111/j.1525-1470.2010.01299.x. Epub 2011 Jul 8.

Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene.

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Dermatology Department, Centro Hospitalar Lisboa Central, Lisbon, Portugal.


Dyskeratosis congenital is reported in two siblings. They presented with the classic triad of mucocutaneous features: leukoplakia of the tongue, dystrophic nails, and a widespread reticulate pigmentation on the neck and upper chest. A genetic analysis was performed and a new missense mutation S356P, hemizygous, was identified in the DKC1 gene in both patients. Acitretin was started at a low-dose in both patients, resulting in clinical improvement and important, positive psychosocial effects.

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