Phakomatoses
Encyclopedia
Phakomatoses are disorders of central nervous system
that additionally result in lesions on the skin
and the eye
.
These tissues have a common ectodermal
origin. However, in some conditions, such as von Hippel-Lindau disease
, ectodermal presentation is minimal.
The term, from the Greek φακός, phakos, "spot, lens" and the suffix -osis, was introduced by Jan van der Hoeve
in 1920, before the distinct genetic basis of each of these diseases was understood.
Conditions included are:
Central nervous system
The central nervous system is the part of the nervous system that integrates the information that it receives from, and coordinates the activity of, all parts of the bodies of bilaterian animals—that is, all multicellular animals except sponges and radially symmetric animals such as jellyfish...
that additionally result in lesions on the skin
Human skin
The human skin is the outer covering of the body. In humans, it is the largest organ of the integumentary system. The skin has multiple layers of ectodermal tissue and guards the underlying muscles, bones, ligaments and internal organs. Human skin is similar to that of most other mammals,...
and the eye
Human eye
The human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...
.
These tissues have a common ectodermal
Ectoderm
The "ectoderm" is one of the three primary germ cell layers in the very early embryo. The other two layers are the mesoderm and endoderm , with the ectoderm as the most exterior layer...
origin. However, in some conditions, such as von Hippel-Lindau disease
Von Hippel-Lindau disease
Von Hippel–Lindau is a rare, autosomal dominant genetic condition in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina. These are associated with several pathologies including renal angioma, renal cell carcinoma and pheochromocytoma...
, ectodermal presentation is minimal.
The term, from the Greek φακός, phakos, "spot, lens" and the suffix -osis, was introduced by Jan van der Hoeve
Jan van der Hoeve
Jan van der Hoeve was a Dutch ophthalmologist. He is recognised for his concept of the phakomatoses, often called neurocutaneous syndromes....
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:
- NeurofibromatosisNeurofibromatosisNeurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors that may be benign or may cause serious damage by compressing nerves and other tissues...
- Tuberous sclerosisTuberous sclerosisTuberous sclerosis or tuberous sclerosis complex is a rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral...
- Ataxia telangiectasiaAtaxia telangiectasiaAtaxia telangiectasia is a rare, neurodegenerative, inherited disease that affects many parts of the body and causes severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease...
- Sturge-Weber syndromeSturge-Weber syndromeSturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal...
- von Hippel-Lindau diseaseVon Hippel-Lindau diseaseVon Hippel–Lindau is a rare, autosomal dominant genetic condition in which hemangioblastomas are found in the cerebellum, spinal cord, kidney and retina. These are associated with several pathologies including renal angioma, renal cell carcinoma and pheochromocytoma...
- Incontinentia pigmentiIncontinentia pigmentiIncontinentia Pigmenti is a genetic disorder that affects the skin, hair, teeth, nails, and central nervous system...
- Nevoid basal cell carcinoma syndromeNevoid basal cell carcinoma syndromeNevoid basal cell carcinoma syndrome , also known as basal cell nevus syndrome, multiple basal cell carcinoma syndrome, Gorlin syndrome, and Gorlin–Goltz syndrome, is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine...