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Dyskeratosis Congenita
Condition Overview: Dyskeratosis Congenita is a rare disorder in which three groups of symptoms occur: darkening and/or unusual absence of skin color (hyper/hypopigmentation); progressive nail dystrophy; and slowly changing characteristics of mucous membranes (leukoplakia) in the anus, urethra, lips, mouth and/or eye.Other symptoms found in some patients with this syndrome may be reduction in red and white blood cells and platelets (pancytopenia), overgrowth of skin on the palms of the hands and soles of the feet, excessive sweating of the palms and soles, sparse or absent hair, fragile bones, underdeveloped testes, and dental abnormalities. Dyskeratosis Congenita is more prevalent among males then females and an X-linked recessive inheritance is the most common form although cases of autosomal recessive and autosomal dominant inheritance have been recorded. This disorder has also occurred sporadically (no known cause) in a significant number of cases. |
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