Can neurofibromatosis be malignant?
The tumors in these disorders are usually noncancerous (benign), but sometimes can become cancerous (malignant). Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain.
What causes segmental NF1?
Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet.
What is segmental neurofibromatosis?
Segmental neurofibromatosis or type V neurofibromatosis is a rare genodermatosis characterized by neurofibromas, café-au-lait spots and neurofibromas limited to a circumscribed body region. The disease may be associated with systemic involvement and malignancies.
Is NF1 a autoimmune disease?
Various autoimmune diseases that have been reported in association with NF1 include multiple sclerosis, systemic lupus erythematosus, membranous glomerulonephritis, IgA nephropathy, mixed connective tissue disease, juvenile arthritis, autoimmune hemolytic anemia, bullous pemphigoid, and Graves disease.
Is segmental neurofibromatosis hereditary?
Segmental neurofibromatosis (SNF) is considered to be a result of mosaicism. Hereditary transmission is possibly explained by increased susceptibility of mutations at neurofibromatosis gene loci. SNF can have hereditary transmission with variable severity in different family members.
Is NF1 dominant or recessive?
Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent .
Is cafe au lait spots normal?
Café au lait spots are harmless and normal, with some people having anywhere from one to three spots. But sometimes, these spots can indicate an underlying genetic problem.
What body systems are affected by NF1?
NF1 can lead to problems within various systems, organs and functions of the body including:
- Skin, bone and eye abnormalities.
- Nerve tumors.
- Optic nerve and other brain tumors.
- Learning and attention deficits.
- Heart defects.