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
- Delayed puberty features (present in 80 to 99% of the individuals)[1][2]
- Cognitive imapirment (present in 80 to 99% of the individuals)[3][4][2]
- Ataxic (present in 30 to 79% of the individuals)[1]
- Genu valgum (present in 30 to 79% of the individuals)[1]
- Speech impairment (present in 30 to 79% of the individuals)[1]
- High stature (present in 30 to 79% of the individuals)[1]
- Low stature (present in 5 to 29% of the individuals)[1]
- Abnormal hair quantity (present in 5 to 29% of the individuals)[1]
- Precocious puberty features (present in 5 to 29% of the individuals)[1]
Vital Signs
- High blood pressure with normal pulse pressure (present in 5 to 29% of the individuals)[1]
Skin
- Neurofibromas are the most common type of tumor in neurofibromatosis type 1 (present in 80–99% of the individuals). Skin neurofibromas can be classified as pedunculated, subcutaneous, or sessile.[1][5][6][7][8][2]
- Plexiform neurofibromas are potentialy malignant.They have been described as “a bag of worms” (present in 80 to 99% of the individuals)[1][9][6][8]
- Generalized hyperpigmentation (present in 80 to 99% of the individuals)[1]
- Cafe au lait spots (present in 80 to 99% of the individuals)[8][2]
- Lipomas (present in 80 to 99% of the individuals)[1][2]
- Macules (present in 80 to 99% of the individuals)[1]
- Melanocytic nevus (present in 80 to 99% of the individuals)[1]
- Hypopigmented skin patches (present in 5 to 29% of the individuals)[1]
- Hypertrophy of fungiform papillae (present in 5 to 29% of the individuals)[10]
- Bruises (present in 5 to 29% of the individuals)[1]
- Skin freckling (present in 5 to 29% of the individuals)[8]
HEENT
- Lisch nodules (present in 80 to 99% of the individuals)[8][2]
- Hearing impairment (present in 30 to 79% of the individuals)[1][2]
- Heterochromia iridis (present in 30 to 79% of the individuals)[1]
- Proptosis (present in 30 to 79% of the individuals)[1][2]
- Hidrocephalus (present in 5 to 29% of the individuals)[1]
- Macrocephaly (present in 5 to 29% of the individuals)[1]
- Abnormal electroretinogram (present in 5 to 29% of the individuals)[1]
- Abnormal eyelid morphology (present in 5 to 29% of the individuals)[8]
- Abnormality of retinal pigmentation (present in 5 to 29% of the individuals)[1]
- Cataract (present in 5 to 29% of the individuals)[1][2]
- Chorioretinal coloboma (present in 5 to 29% of the individuals)[1][2]
- Corneal opacity (present in 5 to 29% of the individuals)[1]
- Glaucoma (present in 5 to 29% of the individuals)[1][2]
- Myopia (present in 5 to 29% of the individuals)[1][2]
- Hypertelorism (present in 1 to 4% of the individuals)[1]
- Optic nerve glioma (present in 1 to 4% of the individuals)[8]
Neck
- Parathyroid adenoma (present in 1 to 4% of the individuals)[1]
Chest
- Respiratory system anomalies (present in 5 to 29% of the individuals)[1]
- Pectus excavatum (present in 1 to 4% of the individuals)[1]
- Breast cancer (present in 1 to 4% of the individuals)[8]
Cardiovascular
- Arterial stenosis (present in 5 to 29% of the individuals)[1]
- Hypsarrhythmia (present in 1 to 4% of the individuals)[1]
Abdomen
- Neoplasm of the gastrointestinal tract (present in 5 to 29% of the individuals)[1]
- Pheochromocytoma (present in 5 to 29% of the individuals)[1]
Back
- Scoliosis (present in 5 to 29% of the individuals)[8][2]
- Kyphosis (present in 5 to 29% of the individuals)[1]
- Spina bifida (present in 1 to 4% of the individuals)[1] [2]
Genitourinary
- Cryptorchidism (present in 30 to 79% of the individuals)[1][2]
- Abnormality of the upper urinary tract (present in 5 to 29% of the individuals)[1]
- Urinary tract neoplasm (present in 5 to 29% of the individuals)[1]
- Renal artery stenosis (present in 1 to 4% of the individuals)[1]
Neuromuscular
- Paresthesia (present in 30 to 79% of the individuals)[1]
Extremities
- Genu valgum (present in 30 to 79% of the individuals)[1]
- Slender long bones (present in 30 to 79% of the individuals)[1][2]
- Skeletal dysplasia (present in 30 to 79% of the individuals)[1][2][10]
- Joint stiffness (present in 5 to 29% of the individuals)[1]
- Tibial pseudarthrosis (present in 1 to 4% of the individuals)[8]
References
- ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 1.15 1.16 1.17 1.18 1.19 1.20 1.21 1.22 1.23 1.24 1.25 1.26 1.27 1.28 1.29 1.30 1.31 1.32 1.33 1.34 1.35 1.36 1.37 1.38 1.39 1.40 1.41 1.42 1.43 1.44 1.45 1.46 1.47 "Neurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
- ↑ 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 2.12 2.13 2.14 2.15 2.16 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.
- ↑ 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.
- ↑ 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.
- ↑ 6.0 6.1 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) - ↑ 8.0 8.1 8.2 8.3 8.4 8.5 8.6 8.7 8.8 8.9 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.
- ↑ 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.
- ↑ 10.0 10.1 "scielo.isciii.es" (PDF).