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Dyskeratosis Congenita

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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

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Abstract

Dyskeratosis congenita (DKC) is a rare genodermatosis with multisystemic, life-threatening complications characterized by atrophy and pigmentation of the skin, nail dystrophy, leukoplakia of the oral mucosa, bone marrow failure and a predisposition to malignancy. Other clinical manifestations may include continuous lacrimation due to atresia of the lacrimal ducts, lung fibrosis, liver cirrhosis, osteoporosis and various neurological abnormalities including mental retardation and basal ganglia calcification (Chan 2006, Mason et al. 2005, Scoggings et al. 1971, Walne et al. 2005). The clinical picture often resembles that of a premature aging syndrome and tissues affected are those with a high cell turnover.

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Authors and Affiliations

  1. Department of Dermatology, National Institute of Paediatrics, Insurgente Sur 3700-C, Mexico City, 04530, Mexico

    Marimar Saez-De-Ocariz, Luz Orozco-Covarrubias, Carola Durán-McKinster & Ramón Ruiz-Maldonado

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  1. Marimar Saez-De-Ocariz
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  2. Luz Orozco-Covarrubias
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  3. Carola Durán-McKinster
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  4. Ramón Ruiz-Maldonado
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Editors and Affiliations

  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

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Saez-De-Ocariz, M., Orozco-Covarrubias, L., Durán-McKinster, C., Ruiz-Maldonado, R. (2008). Dyskeratosis Congenita. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_44

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  • DOI: https://doi.org/10.1007/978-3-211-69500-5_44

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