A genetic (autosomal dominant) disorder characterized by skin lesions and cutaneous tumors. In some people, severe disfiguring may occur and skeletal abnormalities may also be present. There is no effective treatment at this time other than surgical correction.
A hereditary condition in which a person has neurofibromata on the nerve trunks, limb plexuses or spinal roots, and pale brown spots appear on the skin.
A rare genetic disorder of the autosomal dominant type that involves the growth of many tumors of nerve cells under the skin (or deeper); also called Von Recklinghausen’s disease or Elephant Man disease. Though benign (not cancerous), these tumors can be disfiguring (as in the case of the so-called Elephant Man) and may grow in sensitive areas, such as the nerves serving the eyes or ears, and so can cause deafness and blindness. In most cases, however, the number and size of the tumors is less severe, and the person can lead a relatively normal life. Early signs of neurofibromatosis, often present at birth, are large tan spots called cafe au lait spots (French for “coffee with milk”), which darken and become more numerous over the years, especially during puberty, pregnancy, and other times when the body’s hormones are imbalanced. Neurofibromatosis is often associated with scoliosis and learning disabilities. If tumors are painful or very disfiguring or if they are near eye or ear nerves, they can be removed by surgery, but the hazard is that they will grow back in greater numbers. The 1990 discovery of the gene that causes NF holds the promise of earlier diagnosis, more effective treatment, and possible detection by prenatal testing. Prospective parents with NF in their family history may want to seek genetic counseling.
Congenital disease (autosomal dominant disease) characterized by numerous neurofibromas, by cafe-au-lait spots on the skin, and often by developmental abnormalities of bone, muscle, and internal organs; also called von Recklinghausen’s disease.
A group of genetic diseases that affect cell growth of neural tissues, with multiple subcutaneous tumors and tumors of the eighth cranial nerve.
A hereditary condition characterized by pigmented skin spots and tumors on the skin and nerves. As the tumors grow they may need to. be removed surgically or treated with radiation.
Genetic disorders characterized by changes in skin pigment, tumors growing on the nerves, and dysplasias (abnormal tissue development). Neurofibromatosis (NF) exists in two forms, NF1 and NF2. The disease can be severely disabling, be mildly disfiguring, or not cause any symptoms. NF is found in every racial and ethnic group and affects males and females equally. Both forms represent autosomal dominant genetic traits that can be inherited from one parent who has the disease. Both NFl and NF2 can also appear in individuals without a family history of the disorder, as a result of spontaneous genetic mutations in either the sperm or egg cell. In the United States, one baby in every 4,000 is born with NFl; about 100,000 Americans have the disease at any given time. NF2, which is less common, occurs in one of every 40,000 births worldwide.
A congenital disease, typified by numerous benign tumors growing from the fibrous coverings of nerves. Tumors may occur in the spinal canal, where they may press on the spinal cord. The tumors can be felt beneath the skin along the course of the nerves; they sometimes become malignant, giving rise to neurofibrosarcomas. Pigmented patches on the skin (cafe au lait spots) are commonly found. This condition is often associated with the adrenal tumor pheochromocytoma.
A group of genetic disorders that affects the cell growth of neural tissues. A characteristic of the disease is the growth of neurofibromas in many locations within or on the surface of the body. For those persons with affected family members, genetic assessment and counseling of parents may be indicated. Genetic assessment and counseling can identify the parents’ risk of being a gene carrier and passing the disease on to subsequent offspring.
A seldom encountered genetic disorder characterized by the development of anomalous lesions with the potential to impact the integrity of the spinal cord.
A genetic condition that leads to the formation of many soft, benign growths called neurofibromas across the body. These tumors originate from nerve tissue and form along nerve routes. In severe cases, it can result in significant disfigurement.
Neurofibromatosis exists in two forms. The more prevalent one, called neurofibromatosis 1, typically manifests in early childhood. On the other hand, neurofibromatosis 2 is quite rare, with symptoms generally emerging in adulthood.
Both forms arise from a mutated gene that follows an autosomal dominant inheritance pattern.
In neurofibromatosis 1, many light brown, flat patches with jagged borders, referred to as café au lait spots, appear on the skin. The growths beneath the skin have a soft texture and can vary from being nearly imperceptible to forming large protrusions. Additionally, there might be a significant presence of freckles in the armpit and groin regions.
Adults diagnosed with neurofibromatosis 2 often have tumors in the inner ear that can impair hearing. However, they seldom develop tumors beneath the skin.
Issues can arise when the expanding tumors exert pressure on nearby organs or nerves. For instance, if a tumor grows on the optic nerve that links the eye to the brain, it can impact vision. Additionally, tumors can lead to spinal curvature. Some children with neurofibromatosis might experience epilepsy or face learning challenges. In uncommon situations, tumors may turn malignant.
Neurofibromatosis currently lacks a cure, and its advancement cannot be decelerated. Nevertheless, surgical extraction of neurofibromas can be undertaken in cases of complications or when sizable, aesthetically disruptive growths are causing emotional strain. Individuals living with this condition, as well as parents of an impacted child, might consider pursuing genetic counseling before embarking on a pregnancy journey.
For mild instances, life expectancy remains typical; however, if the tumors spread extensively and turn cancerous, it leads to a decrease in lifespan.
A condition characterized by the presence of neurofibromas on the skin or along the paths of nerves. These painless, multiple tumors can emerge in large numbers, gradually increasing both in quantity and size. The condition often has a hereditary inclination and is frequently associated with congenital anomalies such as spina bifida, meningocele, syringomyelia, mental deficiencies, and epilepsy. In many instances, individuals with this condition can lead relatively normal, long lives, although there is a tendency for slow progression. The only life-threatening aspect arises when tumors develop within the brain or spinal cavities, or in rare cases, when the tumors become malignant. Treatment, if necessary, typically involves surgical removal of the tumors. This condition is also known as molluscum fibrosum, molluscum pendulum, von Recklinghausen’s disease, or Smith-Recklinghausen’s disease.