Familial spinal neurofibromatosis
Spinal form of neurofibromatosis is a varient of neurofibromatosis. It also is an autosomal dominant disorder caused by NF1 mutations. By contrast the clinical picture is dominated by spinal neurofibromas.
|Café au lait spots|
Typically neurofibromatosis is associated with cafe-au-lait spots. This however is not always true with the spinal form.
|Familial spinal neurofibromatosis|
|Noonan syndrome 6|
Pulst SM et al. (1991) Familial spinal neurofibromatosis: clinical and DNA linkage analysis.[^]
Poyhonen M et al. (1997) Hereditary spinal neurofibromatosis: a rare form of NF1?[^]
Ars E et al. (1998) A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.[^]
Kaufmann D et al. (2001) Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.[^]
Messiaen L et al. (2003) Independent NF1 mutations in two large families with spinal neurofibromatosis.[^]
Burkitt Wright EM et al. (2013) Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.[^]
OMIM.ORG articleOmim 162210 [^]