|Classification and external resources|
Phakomatoses (or neuro-oculo-cutaneous syndromes, neurocutaneous disorders) are multisystem disorders that have characteristic central nervous system, ocular and cutaneous lesions of variable severity. The skin and the brain have a common ectodermal origin, so there are many genetic and acquired diseases that affect both tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal.
The term, from the Greek φακός, phakos, "spot, lens", suffix-(o)ma (-ωμα) and the suffix -osis, also called "Mother's spot " or " Birth mark "was introduced by Jan van der Hoeve in 1920, before the distinct genetic basis of each of these diseases was understood.
Examples of phakomatoses
Phakomatoses are inconsistently defined, and there is not a consensus about what conditions are included in this category.
Conditions included are:
- Tuberous sclerosis
- Ataxia telangiectasia
- Sturge-Weber syndrome
- von Hippel-Lindau disease
- Incontinentia pigmenti
- Nevoid basal cell carcinoma syndrome
- Wyburn-Mason syndrome (Bonnet–Dechaume–Blanc syndrome)
- Arthur Rook; Tony Burns (FRCP.) (2004). Rook's textbook of dermatology. Wiley-Blackwell. pp. 5–. ISBN 978-0-632-06429-8. Retrieved 27 October 2010.
- Barbagallo, JS; Kolodzieh, MS; Silverberg, NB; Weinberg, JM (Jul 2002). "Neurocutaneous disorders.". Dermatologic clinics 20 (3): 547–60, viii. PMID 12170887.
- Neau, JP; Godeneche, G; Mathis, S; Guillet, G (2014). "Neurodermatology.". Handbook of clinical neurology 121: 1561–94. PMID 24365436.
- "Phakomatosis". Medcyclopaedia. GE. Archived from the original on 2012-02-05.
- Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. Retrieved 2007-07-13.
- Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–. ISBN 978-0-323-04332-8. Retrieved 27 October 2010.
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