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Neurofibromatosis, familial spinal(FSNF)

MedGen UID:
320296
Concept ID:
C1834235
Disease or Syndrome
Synonym: FSNF
SNOMED CT: Familial spinal neurofibromatosis (1003465006)
 
Gene (location): NF1 (17q11.2)
 
Monarch Initiative: MONDO:0008078
OMIM®: 162210

Definition

Spinal neurofibromatosis is an autosomal dominant disorder characterized by a high load of spinal tumors. These tumors may be asymptomatic or result in neurologic symptoms, including back pain, difficulty walking, and paresthesias. Spinal NF is considered to be a subtype of neurofibromatosis type I (NF1; 162200), which is an allelic disorder. Patients with spinal NF may or may not have the classic cutaneous cafe-au-lait pigmentary macules or ocular Lisch nodules typically observed in patients with classic NF1. Patients with spinal NF should be followed closely for spinal sequelae (summary by Burkitt Wright et al., 2013). [from OMIM]

Clinical features

From HPO
Lower limb muscle weakness
MedGen UID:
324478
Concept ID:
C1836296
Finding
Weakness of the muscles of the legs.
Neurofibroma
MedGen UID:
45058
Concept ID:
C0027830
Neoplastic Process
A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.
Plexiform neurofibroma
MedGen UID:
64640
Concept ID:
C0206728
Neoplastic Process
A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.
Paraparesis
MedGen UID:
113150
Concept ID:
C0221166
Sign or Symptom
Weakness or partial paralysis in the lower limbs.
Symmetric spinal nerve root neurofibromas
MedGen UID:
320297
Concept ID:
C1834236
Neoplastic Process
Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.
Spinal neurofibroma
MedGen UID:
869787
Concept ID:
C4024217
Neoplastic Process
A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.
Freckling
MedGen UID:
5272
Concept ID:
C0016689
Finding
The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Lisch nodules
MedGen UID:
395461
Concept ID:
C1860334
Finding
The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..

Recent clinical studies

Diagnosis

Nicita F, Torrente I, Spalice A, Bottillo I, Papetti L, Pinna V, Ursitti F, Ruggieri M
J Clin Neurosci 2014 Feb;21(2):328-30. Epub 2013 Aug 15 doi: 10.1016/j.jocn.2013.01.026. PMID: 23954459
Ruggieri M, Polizzi A, Salpietro V, Incorpora G, Nicita F, Pavone P, Falsaperla R, Nucifora C, Granata F, Distefano A, Padua L, Caltabiano R, Lanzafame S, Gabriele AL, Ortensi A, D'Orazi V, Panunzi A, Milone P, Mankad K, Platania N, Albanese V, Pavone V
Neuropediatrics 2013 Oct;44(5):239-44. Epub 2013 Jun 18 doi: 10.1055/s-0033-1343350. PMID: 23780384
Wimmer K, Mühlbauer M, Eckart M, Callens T, Rehder H, Birkner T, Leroy JG, Fonatsch C, Messiaen L
Eur J Hum Genet 2002 May;10(5):334-8. doi: 10.1038/sj.ejhg.5200807. PMID: 12082509

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