Book chapter
Neuro-Oculocutaneous Syndromes (Phakomatoses)
Clinical Ophthalmic Oncology, pp.125-150
Springer Nature Switzerland, Fourth edition
2024
DOI: 10.1007/978-3-031-72433-6_10
Abstract
The term phakomatosis is derived from the Greek word phakoma, which means “birthmark.” In 1923, van der Hoeve grouped together von Hippel-Lindau disease, tuberous sclerosis, and neurofibromatosis because of their manifestations at birth, autosomal-dominant inheritance, and involvement of multiple systems. Subsequently, encephalofacial angiomatosis (Sturge-Weber syndrome) was added although there have been no instances of clear-cut inheritance of this condition. Other common features of the phakomatoses include a predominance of neural and ocular involvement with variable cutaneous and visceral manifestations. Wyburn-Mason syndrome, retinal cavernous hemangioma, and ataxia telangiectasia have also been grouped with the phakomatoses and have been included in this chapter. Phakomatosis pigmentovascularis and neurocutaneous melanosis are briefly described.
Details
- Title: Subtitle
- Neuro-Oculocutaneous Syndromes (Phakomatoses)
- Creators
- Elaine M. Binkley - University of IowaLola P. Lozano - University of IowaElias I. Traboulsi - Cleveland ClinicArun D. Singh - Cleveland Clinic
- Contributors
- Arun D. Singh (Editor)Bertil E. Damato (Editor)
- Resource Type
- Book chapter
- Publication Details
- Clinical Ophthalmic Oncology, pp.125-150
- Edition
- Fourth edition
- Publisher
- Springer Nature Switzerland; Cham
- DOI
- 10.1007/978-3-031-72433-6_10
- Language
- English
- Date published
- 2024
- Academic Unit
- Ophthalmology and Visual Sciences
- Record Identifier
- 9984770791102771
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