Specialty medical genetics ICD-9-CM 759.5-759.6 MeSH D020752 | ICD-10 Q85 DiseasesDB 31496 | |
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
Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category.
Conditions included are: