Encephalocraniocutaneous lipomatosis (ECCL), is a rare condition primarily affecting the

brain A brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. It is located in the head, usually close to the sensory organs for senses such as vision. It is the most complex organ in a v ...

eyes Eyes are organs of the visual system. They provide living organisms with vision, the ability to receive and process visual detail, as well as enabling several photo response functions that are independent of vision. Eyes detect light and conve ...

, and

skin Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation. Other cuticle, animal coverings, such as the arthropod exoskeleton, have diffe ...

of the head and face. It is characterized by unilateral subcutaneous and intracranial

lipomas A lipoma is a benign tumor made of fat tissue. They are generally soft to the touch, movable, and painless. They usually occur just under the skin, but occasionally may be deeper. Most are less than in size. Common locations include upper back, ...

alopecia Hair loss, also known as alopecia or baldness, refers to a loss of hair from part of the head or body. Typically at least the head is involved. The severity of hair loss can vary from a small area to the entire body. Inflammation or scarri ...

, unilateral porencephalic cysts, epibulbar

choristoma Choristomas, a form of heterotopia, are masses of normal tissues found in abnormal locations. In contrast to a neoplasm or tumor, the growth of a choristoma is normally regulated. It is different from a hamartoma. The two can be differentiated a ...

and other ophthalmic abnormalities. This condition is described as sporadic because it occurs in people without a history of the disorder in their family. It was named after Haberland and Perou who first described it.

Signs and Symptoms

Eighty to ninety percent of those with encephalocraniocutaneous lipomatosis are unable to produce and keep fat tissue and have multiple

. Other types of growths, including jaw tumours, may also occur. Approximately two thirds of individuals with Encephalocraniocutaneous lipomatosis have intracranial and/or intraspinal lipomas. They also have an increased risk of developing a form of brain cancer known as a glioma. Other neurological issues that can occur include

seizures An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or neural oscillation, synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much o ...

spasticity Spasticity () is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia. It is also colloquially referred to as an unusual "tightness", stiffness, or "pull" of muscles. ...

and variable

intellectual disability Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signifi ...

. However, approximately one third of effected individuals have typical intelligence. The most common ocular abnormality in encephalocraniocutaneous lipomatosis is a form of benign growth called a

which can occur in one or both eyes. These may effect vision. Other ocular symptoms include abnormally small eyes, small pupils, iris hypoplasia,

sclerocornea Sclerocornea is a congenital anomaly of the eye in which the cornea The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts ligh ...

, hypertrophic conjunctivae, an absent macular reflex and anterior chamber anomalies. There may be eyelid colobomas and short or abnormal palpebral fissures. Skin tags often grow around the eyelids.

Cause

Encephalocraniocutaneous lipomatosis can result from mutations in the ''

FGFR1 Fibroblast growth factor receptor 1 (FGFR1), also known as basic fibroblast growth factor receptor 1, fms-related tyrosine kinase-2 / Pfeiffer syndrome, and CD331, is a receptor tyrosine kinase whose ligands are specific members of the fibroblast ...

'' gene, which provides instructions for making a protein called fibroblast growth factor receptor 1 (FGFR1). This receptor interacts with proteins called fibroblast growth factors (FGFs) to trigger signaling within cells. Signaling via the

protein is involved in many critical processes, such as cell division and the regulation of cell growth and maturation. This signaling is important for the normal development and growth of several parts of the body, including the brain. In some people with ECCL, no ''FGFR1'' gene mutation has been identified, and the cause of the disease is unknown. Other genetic changes are under study as possible causes of this condition.

Signs and Symptoms

Cause

History

See also

References

External links