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Darier’s Disease

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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

Abstract

Darter’s disease is an autosomal dominant acantholytic disorder (OMIM # 124200) characterized by a peculiar keratinization of the epidermis, nails, and mucous membranes, resulting in a persistent eruption of keratotic papules predominantly in seborrheic areas (upper and central trunk, flexures, scalp and forehead), palmar pits and nail dystrophy. Involvement may be severe, with widespread itchy malodorous crusted plaques, painful erosions, blistering, and mucosal lesions. Secondary infection is common. Sun, heat, and sweating exacerbate the disease, which never remits (even though oral retinoids may reduce hyperkeratosis). Neuropsychiatric abnormalities including mild mental retardation, epilepsy, and schizophrenia have been reported in some families (Burge and Wilkinson 1992, Jacobsen et al. 1999): whether this association is due to pleiotropism of the mutated gene or reflects coincidence is not clear (OMIM 2006). Several variants have been described (see below).

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Authors and Affiliations

  1. Department of Dermatology, National Institute of Paediatrics, Mexico City, 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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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). Darier’s Disease. 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_43

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