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• W2179663772 endingPage "204" @default.
• W2179663772 startingPage "183" @default.
• W2179663772 abstract "Neurocutaneous syndromes are a heterogeneous group of congenital and hereditary disorders with manifestations in the skin and the nervous system, usually together with ocular features that represent diagnostic clues and potential sources of morbidity. Dermatologists and ophthalmologists often need to work together in identifying and managing patients with these conditions; herein, we focus on classic and under-recognized neurocutaneous syndromes. We begin with autosomal dominant genodermatoses characterized by hamartomas and tumors in the skin, eyes, and central nervous system: neurofibromatosis type 1, tuberous sclerosis complex, and PTEN hamartoma-tumor syndrome. This is followed by a discussion of two mosaic disorders, Sturge-Weber syndrome and neurocutaneous melanocytosis. In addition to providing an update on clinical presentations and evaluation of patients with these conditions, we review recent insights into their pathogenesis, drawing attention to relationships among the diseases on a molecular level and implications regarding treatment. We also highlight the major features of other neurocutaneous syndromes that have ocular findings plus pigmentary, vascular, hyperkeratotic, adnexal, connective tissue, photosensitive, and inflammatory manifestations in the skin." @default.
• W2179663772 created "2016-06-24" @default.
• W2179663772 creator A5060346030 @default.
• W2179663772 creator A5065205547 @default.
• W2179663772 date "2016-03-01" @default.
• W2179663772 modified "2023-10-02" @default.
• W2179663772 title "Cutaneous and ocular manifestations of neurocutaneous syndromes" @default.
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