Phakomatosis
| Phakomatoses | |
|---|---|
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q85 |
| ICD-9-CM | 759.5-759.6 |
| DiseasesDB | 31496 |
| MeSH | D020752 |
Phakomatoses (or neuro-oculo-cutaneous syndromes, neurocutaneous disorders) are multisystem disorders that have characteristic central nervous system, ocular, and cutaneous lesions of variable severity.[1][2] The skin and the brain have a common ectodermal origin, so there are many genetic and acquired diseases that affect both tissues.[3] However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal.[4]
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.[5]
Examples of phakomatoses
Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category.[6]
Conditions included are:
- Ataxia telangiectasia
- Incontinentia pigmenti
- Neurofibromatosis
- Nevoid basal cell carcinoma syndrome
- Sturge-Weber syndrome
- Tuberous sclerosis
- Wyburn-Mason syndrome (Bonnet–Dechaume–Blanc syndrome)
- von Hippel-Lindau disease
References
- ↑ 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.
- ↑ 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.
- ↑ "Phakomatosis". Medcyclopaedia. GE.
- ↑ 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.
External links
- 1147863071 at GPnotebook
- KidsHealth
- OMIM is an Online Catalog of Human Genes and Genetic Disorders