Ocular manifestations of genetic skin disorders.
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.
Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Cockayne Syndrome, Ectodermal Dysplasias, Basal Cell Skin Cancer, Pseudoxanthoma Elasticum, Homocystinuria, Rothmund-Thomson Syndrome, Ichthyosis Bullosa of Siemens, Palmoplantar Keratoderma, Xeroderma Pigmentosum, Dyskeratosis Congenita, Cockayne Syndrome Type 1, X-Linked Ichthyosis, Ehlers-Danlos Syndrome (EDS), Marfan Syndrome, Bullae, Hereditary Keratitis, Nevoid Basal Cell Carcinoma Syndrome, Interstitial Keratitis, X-Linked Chondrodysplasia Punctata 2, Refsum Disease, Acrokeratoelastoidosis of Costa, Focal Dermal Hypoplasia, Sjogren-Larsson Syndrome, Epidermolysis Bullosa, Trichothiodystrophy, Bloom Syndrome, Chondrodysplasia Punctata Syndrome, Aplasia Cutis Congenita, Clouston Syndrome, Spasticity, Kindler Syndrome, Cockayne Syndrome Type 2, Osteogenesis Imperfecta