|Classification and external resources|
Phakomatoses refers to a group of neuro-oculo-cutaneous syndromes or neurocutaneous disorders involving structures arising from the embryonic ectoderm. These multisystem disorders involve the ectodermal structures like central nervous system, skin and eyes. The lesions have a variable severity. However, it has been subsequently noted that mesodermal and endodermal tissues too are involved.
A number of genetic and acquired diseases come in this category and may affect one or more of these 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.
Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category.
Conditions included are:
- Ataxia telangiectasia
- Incontinentia pigmenti
- Nevoid basal cell carcinoma syndrome
- Sturge-Weber syndrome
- Tuberous sclerosis
- Wyburn-Mason syndrome (Bonnet–Dechaume–Blanc syndrome)
- von Hippel-Lindau disease
- Neau, JP; Godeneche, G; Mathis, S; Guillet, G (2014). "Neurodermatology". Handbook of clinical neurology. 121: 1561–94. doi:10.1016/B978-0-7020-4088-7.00104-8. PMID 24365436.
- 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. doi:10.1016/s0733-8635(02)00005-0. PMID 12170887.
- "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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