The prevalence of Legius syndrome is unknown. Many individuals with this disorder are likely misdiagnosed because the signs and symptoms of Legius syndrome are similar to those of neurofibromatosis type 1.
Legius syndrome and NF1 share a similar dermatological phenotype, consisting of multiple CALMs and freckling. Legius syndrome is a much milder condition lacking the tumour phenotype seen in NF1. The neurocognitive phenotype also seems milder.
The development of NF1 is related to gene deletion, and its incidence rate is about 1/3000[1]. It is rare among children, especially infants. Early clinical symptoms are often atypical; hence, it can be easily misdiagnosed.
Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas. Watson syndrome is allelic to NF1, the same gene associated with neurofibromatosis type 1.
Solitary neurofibromas can also occur in people who don't have NF. These are called sporadic neurofibromas. Their cause is not known, although researchers are exploring the role of trauma. Most sporadic neurofibromas don't cause pain and can be managed without surgery or medication.
Diagnosing neurofibromatosis
Genetic testing can be useful in some situations, such as for prenatal testing or when the clinical diagnosis is inconclusive. Detailed imaging of the brain and spinal cord by MRI are necessary and additional imaging based on symptoms may reveal schwannomas on peripheral nerves.
These are slow-growing, non-cancerous tumors that develop in the protective covering of nerve cells, also call the nerve sheath. There are three main types of neurofibromas: cutaneous, subcutaneous, and plexiform.
Pitt-Hopkins syndrome (PTHS) is a rare, genetic, neurological disorder. Affected children have distinctive facial features and experience intellectual disability, delays in reaching developmental milestones, impaired ability to speak, and can have recurrent seizures, and breathing pattern abnormalities.
Niemann-Pick is a rare, inherited disease that affects the body's ability to metabolize fat (cholesterol and lipids) within cells. These cells malfunction and, over time, die. Niemann-Pick disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs.
This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth with full lips.
The symptoms of neurofibromatosis type 1 (NF1) are often mild and cause no serious health problems. But some people will have severe symptoms. The symptoms of NF1 can affect many different areas of the body, but it's unlikely someone will develop all of them.
A blood test is available for genetic testing to see whether a mutation in the neurofibromatosis type 1 gene is present. A diagnosis of neurofibromatosis type 1 is still possible in people who don't have an identifiable mutation. Testing can now also be performed for SPRED1.
NF1 is a rare disorder that affects males and females in equal numbers. NF1 affects all races and ethnic groups equally and is estimated to occur in 1 in 2,500 to 3,000 births.
The term neurofibromatosis (NF) is used for a group of genetic disorders that primarily affect the cell growth of neural tissues. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is the most common type of NF, and accounts for about 90% of all cases.
There are two major types: neurofibromatosis type I (NF1) and neurofibromatosis type II (NF2). NF1 manifests itself at birth or during early childhood. NF1 is characterized by multiple light brown (café-au-lait) spots concentrated in the groin and underarms and benign tumors under the skin.
Niemann-Pick disease refers to a group of inherited metabolic disorders in which abnormal amounts of lipids (fatty materials such as waxes, oils, and cholesterol) build up in the brain, spleen, liver, lungs, and bone marrow.
What are the symptoms of Batten disease? Most forms of Batten disease cause vision loss, seizures, delayed developmental milestones, behavioral and learning problems, and loss of language and motor skills. Some children with infantile Batten disease also develop microcephaly.
The most common symptom of Hodgkin lymphoma is a swelling in the neck, armpit or groin. The swelling is usually painless, although some people find that it aches. The swelling is caused by an excess of affected lymphocytes (white blood cells) collecting in a lymph node (also called lymph glands).
Itching caused by lymphoma can affect: areas of skin near lymph nodes that are affected by lymphoma. patches of skin lymphoma. your lower legs.
The most common early symptom of lymphoma is one or more swollen lymph nodes, often in the groin, armpit, and side of the neck. Other symptoms may include: fevers, chills, and night sweats.
Schwannomatosis is usually considered to be a form of neurofibromatosis, which is a group of disorders characterized by the growth of tumors in the nervous system. The other two recognized forms of neurofibromatosis are neurofibromatosis type 1 and neurofibromatosis type 2.
In many cases, neurofibromatosis symptoms worsen as a patient ages. There is no cure for neurofibromatosis. However, many symptoms can be treated and managed. Children with more severe symptoms will naturally require more medical attention than children who have mild symptoms.
Schwannoma Versus Neurofibroma
A schwannoma is made up solely of Schwann cells, while neurofibromas may include other kinds of cells, such as mast cells and the axons of nerves, mingled together with collagen bundles and other material.