Abstract
Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Ophthalmologic examination can aid in diagnosis when characteristic findings are seen. The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and genetic metabolic diseases are not included because they are covered elsewhere in this issue.
Copyright © 2015 Elsevier Inc. All rights reserved.
MeSH terms
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Basal Cell Nevus Syndrome / complications*
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Blister / complications
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Bloom Syndrome / complications
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Chondrodysplasia Punctata / complications
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Cockayne Syndrome / complications
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Dyskeratosis Congenita / complications
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Ehlers-Danlos Syndrome / complications
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Epidermolysis Bullosa / complications
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Eye Diseases / etiology*
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Eye Diseases / therapy*
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Focal Dermal Hypoplasia / complications
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Homocystinuria / complications
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Humans
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Ichthyosis / complications
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Keratitis / complications
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Keratoderma, Palmoplantar / complications
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Marfan Syndrome / complications
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Neurocutaneous Syndromes / complications
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Nevus / complications
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Osteogenesis Imperfecta / complications
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Periodontal Diseases / complications
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Photosensitivity Disorders / complications
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Pseudoxanthoma Elasticum / complications
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Refsum Disease / complications
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Rothmund-Thomson Syndrome / complications
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Sjogren-Larsson Syndrome / complications
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Skin Diseases, Genetic / complications*
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Skin Neoplasms / complications*
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Trichothiodystrophy Syndromes / complications
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Tyrosinemias / complications
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Xeroderma Pigmentosum / complications
Supplementary concepts
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Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
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Epidermal Nevus
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Keratitis-Ichthyosis-Deafness Syndrome
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Poikiloderma of Kindler