Neurofibromatosis type 1 physical examination
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.
Overview
Physical Examination
Physical examination of patients with [disease name] is usually normal.
OR
Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
OR
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
OR
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
Appearance of the Patient
- Ataxic[1]
- Genu valgum
- Speech impairment
- High stature
- Low stature
- Abnormal hair quantity
- Precocious puberty characteristics (present in 80-99% of the individuals)
Vital Signs
- High blood pressure with normal pulse pressure
Skin
- Neurofibromas are the most common type of tumor in neurofibromatosis type 1, they are present in 40–60% these individuals.[2][3]
- Generalized hyperpigmentation
- Neurofibromas arise from shwann cells.[3][4]
- Skin neurofibromas can be classified as pedunculated, subcutaneous, or sessile.[3]
- Plexiform neurofibromas are potentialy malignant.They have been described as “a bag of worms”.[5][3].
- Cafe au lait spots
- Multiple lipomas
- Macules
- Melanocytic nevus
- Subcutaneous nodules
- Bruises
- Hypopigmented skin patches
HEENT
- Hidrocephalus
- Macrocephaly
- Hearing impairment
- Lisch nodules
- Heterochromia iridis
- Proptosis
- Abnormal electroretinogram
- Abnormal eyelid morphology
- Abnormality of retinal pigmentation
- Cataract
- Chorioretinal coloboma
- Corneal opacity
- Glaucoma
- Myopia
- Hypertelorism
Neck
- Parathyroid adenoma
Chest
- Abnormality of the respiratory system
- Pectus excavatum
Cardiovascular
- Arterial stenosis
- Hypsarrhythmia
Abdomen
- Neoplasm of the gastrointestinal tract
- Pheochromocytoma
Back
- Scoliosis
- Kyphosis
- Spina bifida
Genitourinary
- Cryptorchidism
- Abnormality of the upper urinary tract
- Urinary tract neoplasm
- Renal artery stenosis
Neuromuscular
- Paresthesia
Extremities
- Genu varum
- Slender long bone
- Skeletal dysplasia
- Joint stiffness
- Tibial pseudarthrosis
Peripheral nervous system lesions
Between birth and infancy : CALMs(cafe au lait macules) • Orbital dysplasia • Tibial dysplasia • Pseudarthrosis Plexiform neurofibroma[6]
Between infancy and early chidhood: Learning deficits • ADHD or ASD • Motor and/or speech delays Optic pathway glioma[6]
Between early childhood and adolescence: • Skinfold freckling • Lisch nodules, Scoliosis • Dermal neurofibroma • Paraspinal neurofibroma Brainstem glioma[6]
In adulthood: • MPNST • Breast cancer • High-grade glioma[6]
A neurofibroma is a mass lesion of the peripheral nervous system. Its cellular lineage is uncertain, and may derive from Schwann cells, other perineural cell lines, or fibroblasts. Neurofibromas may arise sporadically, or in association with NF-1. A neurofibroma may arise at any point along a peripheral nerve. A cutaneous neurofibroma manifests as a solitary or as multiple firm, rubbery bumps of varying sized on a person's skin. A solitary neurofibroma may also occur in a deeper nerve trunk, and only be seen on cross-sectional imaging (e.g. computed tomography or magnetic resonance) as a fusiform enlargement of a nerve.
The hallmark lesion of NF-1 is the plexiform neurofibroma. These lesions are composed of sheets of neurofibromatous tissue which may infiltrate and encase major nerves, blood vessels, and other vital structures. Because of this, these lesions are impossible to routinely resect.
If a plexiform fibroma manifests on a leg or arm, it will cause extra blood circulation, and may thus accelerate the growth of the limb. This may cause considerable difference in length between left and right limbs. To equalise the difference during childhood, there is an orthopedic surgery called "epiphysiodesis", in which the epiphyseal (growth) plate is removed. It can be removed in one of the bone's end to slow down the growth, or in both ends to stop growth of that bone completely. The surgery must also be carefully planned with regard to timing, as it is non-reversible, so that the limbs are at near equal length at end of growth.
Schwannomas are peripheral nerve-sheath tumor seen with increased frequency in NF-1. In practice, the major distinction between a schwannoma and a solitary neurofibroma is that a schwannoma can be resected while sparing the underlying nerve, while resection of a neurofibroma requires the sacrifice of the underlying nerve.
Malignant peripheral nerve-sheath tumors, or neurofibrosarcomas, can arise from degeneration of a plexiform neurofibroma; this is, fortunately, a rare complication.
Dermatologic manifestations
In addition to the cutaneous neurofibroma, patients with NF-1 develop flat pigmented lesions of the skin called café au lait spots.[2].
NF-1 patients may also get freckles of the axillae (armpits).
http://en.wikipedia.org/wiki/Plexiform_neurofibroma
Central nervous system manifestations
The primary neurologic involvement is of the peripheral nervous system, as described above.
Intracranially, NF-1 patients have a predisposition to develop glial tumors of the central nervous system; primarily: optic gliomas and astrocytomas. Another CNS manifestation of NF1 is the so-called "unidentified bright object" or UBO, which is a lesion which has increased signal on a T2 weighted sequence of a magnetic resonance imaging examination of the brain. These UBOs are typically found in the cerebellar peduncles, pons, midbrain, globus pallidus, thalamus, and optic radiations. Their exact identity remains a bit of a mystery since they disappear over time (usually, by age 16), and they are not typically biopsied or resected. They may represent a focally degenerative bit of myelin.
Within the CNS, this manifests as a weakness of the dura, which is the tough covering of the brain and spine. Weakness of the dura leads to focal enlargement (termed dural ectasia) due to chronic exposure to the pressures of CSF pulsation.
Radiographically, dural ectasia can lead to scalloping of the posterior vertebral bodies and to the formation of cystic diverticula of the dura of the spine (termed meningoceles).
Skeletal lesions
Bones, especially the ribs, can develop chronic erosions (pits) from the constant pressure of adjacent neurofibromas and schwannomas. Similarly, the neural foramen of the spine can be widened due to the presence of a nerve root neurofibroma or schwannoma.
In NF-1, these is also a generalized abnormality of the soft tissues, which is referred to as mesodermal dysplasia. This manifests as maldevelopment of skeletal structures, including
- Focal scoliosis and/or kyphosis, which is the most common skeletal manifestation of NF-1, occurring in 20% of affected patients. Approximately one quarter of patients will require corrective surgery.
- Bowing of a long bone with a tendency to fracture and not heal, yielding a pseudarthrosis. The most common bone to be affected is the tibia (causing congenital pseudarthrosis of the tibia or CPT). CPT occurs in 2-4% of individuals with NF-1.
- Malformation of the facial bones or of the eye sockets (lambdoid suture defects, sphenoid dysplasia)
- Unilateral overgrowth of a limb
Cognitive problems and learning disabilities in NF-1
The most common complication in patients with NF-1 is cognitive and learning disability. These cognitive problems have been shown to be present in approximately 80% of children with NF-1 and have significant effects on their schooling and everyday life.[7] The most common cognitive problems are with perception, executive functioning and attention. ADHD has been shown to be present in approximately 38% of children with NF-1. Language, maths and motor deficits are also common. These cognitive problems have been shown to be stable into adulthood and do not get worse unlike some of the other physical symptoms of NF-1.[8]
All physical feature[9]
References
- ↑ "Neurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
- ↑ Friedman JM, Birch PH (May 1997). "Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients". Am. J. Med. Genet. 70 (2): 138–43. doi:10.1002/(sici)1096-8628(19970516)70:2<138::aid-ajmg7>3.0.co;2-u. PMID 9128932.
- ↑ 3.0 3.1 3.2 3.3 Anderson JL, Gutmann DH (2015). "Neurofibromatosis type 1". Handb Clin Neurol. 132: 75–86. doi:10.1016/B978-0-444-62702-5.00004-4. PMID 26564071.
- ↑ . doi:10.1002/(SICI)1096-8628(19990326)89:1<23::AID-AJMG6>3.0.CO;2-%23. Missing or empty
|title=(help) - ↑ Mautner VF, Asuagbor FA, Dombi E, Fünsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM (August 2008). "Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1". Neuro-oncology. 10 (4): 593–8. doi:10.1215/15228517-2008-011. PMC 2666233. PMID 18559970.
- ↑ 6.0 6.1 6.2 6.3 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ Hyman, SL. et al.(2005). The Nature and Frequency of Cognitive Deficits in Children with Neurofibromatosis Type 1. Neurology, 65, 1037-1044.
- ↑ Hyman, S.L. et al. (2003). Natural History of Neuropsychological Ability and T2-Hyperintensities in Patients with Neurofibromatosis Type 1. Neurology, 60(7), 1139-1145.
- ↑ Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G (August 2007). "Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors". J Genet Couns. 16 (4): 387–407. doi:10.1007/s10897-007-9101-8. PMC 6338721. PMID 17636453.