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Published on: September 20, 2018
Ocular manifestations of genetic skin disorders
Melinda Jen1, Sudha Nallasamy2
1Section of Pediatric Dermatology, Children's Hospital of Philadelphia; Departments of Pediatrics and Dermatology, Perelman School of Medicine at the University of Pennsylvania, 3550 Market St, Second floor, Philadelphia, PA, 19104.
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.
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