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This is a well-recognized inherited disorder that usually presents in males. Most cases are X-linked; autosomal dominant and recessive forms have been reported Handley TP, McCaul JA. and Ogden GR (2006). Dyskeratosis congenita, Oral Oncol., vol. 42, no. 4, pp. 331-336.. The syndrome is characterized by reticular atrophy of the skin with pigmentation dystrophy of the nails, lacrimal duct obstruction, hyperhidrosis of palms and soles and oral leukoplakia. They usually appear between the ages of five and 14 years. The initial lesions are vesicles and ulcers, which become covered by white patches of necrotic epithelium. Leukoplakia may be present in any mucosal site. The significance of the condition lies in premature mortality arising from either bone marrow failure or malignant change within the areas of leukoplakia Handley TP, McCaul JA. and Ogden GR (2006). Dyskeratosis congenita, Oral Oncol., vol. 42, no. 4, pp. 331-336.. Patients with dyskeratosis congenita have an increased frequency of neoplasm of the digestive system, oral cavity and pharynx. Most neoplasms occur in the third or fourth decade.
The oral lesions are a well-recognized entity.


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Figure 1: Dyskeratosis Congenita. (A) A 30-year-old male with mental retardation, thrombocytopenia and strong family history of skin pigmentation presented with hyper pigmented lesions of the skin and dystrophic changes of the nail. (B) 4x3 cm homogenous leukoplakia on the dorsum tongue.
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