Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Symptoms

Café au lait spots
Typically neurofibromatosis is associated with cafe-au-lait spots. This however is not always true with the spinal form.

Systematic

Neurofibromatosis
Familial spinal neurofibromatosis
NF1
Legius syndrome
Neurofibromatosis 1
Neurofibromatosis-Noonan syndrome
Noonan syndrome 6
Watson syndrome

References:

1.

Pulst SM et al. (1991) Familial spinal neurofibromatosis: clinical and DNA linkage analysis.

[^]
2.

Poyhonen M et al. (1997) Hereditary spinal neurofibromatosis: a rare form of NF1?

[^]
3.

Ars E et al. (1998) A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

[^]
4.

Kaufmann D et al. (2001) Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.

[^]
5.

Messiaen L et al. (2003) Independent NF1 mutations in two large families with spinal neurofibromatosis.

[^]
6.

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.

[^]
7.

OMIM.ORG article

Omim 162210 [^]
Update: April 29, 2019