Neurofibromatosis type 1 physical examination: Difference between revisions

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==Overview==
==Overview==
<br />
'''[[Neurofibromatosis type 1]]''' [[physical examination]] may vary widely among [[patients]]. The most common features are the presence of [[Neurofibroma|neurofibromas]], [[Plexiform neurofibroma|plexiform neurofibromas]], [[Lisch nodules]], [[Café au lait spot|cafe au lait macules]] (CALM), [[delayed puberty]] features, and [[cognitive impairment]]. [[Neurofibromatosis type 1]] may be diagnosed clinically with great [[specificity]] and [[sensitivity]] by the presence of 2 characteristic features on [[physical examination]], although many children with the [[NF1]] [[gene]] [[mutation]] may not meet the criteria at age 1, but will do so at 8 years old in 97% of the cases.<br />


==Physical Examination==
==Physical Examination==
Physical examination of patients with [disease name] is usually normal.


OR
*[[Physical examination]] of patients with [[neurofibromatosis type 1]] is remarkable for the presence of [[Neurofibroma|neurofibromas]], [[Plexiform neurofibroma|plexiform neurofibromas]], [[Lisch nodules]], [[Café au lait spot|cafe au lait macules]], [[delayed puberty]] features, and [[cognitive impairment]].<ref name="urlscielo.isciii.es2">{{cite web |url=http://scielo.isciii.es/pdf/odonto/v21n5/original1.pdf |title=scielo.isciii.es |format= |work= |accessdate=}}</ref>
 
*[[Neurofibromatosis type 1]] has a great variability among the patients, while some individuals may have few small [[Neurofibroma|neurofibromas]], others may have multiple large masses.<ref name="urlscielo.isciii.es2" />
Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
*[[Neurofibroma|Neurofibromas]] may appear in any part of the [[body]], although they are much more common in the [[skin]].<ref name="urlscielo.isciii.es2" />
 
*The presence of 2 of the following features on [[physical examination]] is sufficient for clinical diagnosis of [[neurofibromatosis type 1]]:<ref name="pmid29478615">{{cite journal |vauthors=Cimino PJ, Gutmann DH |title=Neurofibromatosis type 1 |journal=Handb Clin Neurol |volume=148 |issue= |pages=799–811 |date=2018 |pmid=29478615 |doi=10.1016/B978-0-444-64076-5.00051-X |url=}}</ref><ref name="pmid195398392">{{cite journal |vauthors=Boyd KP, Korf BR, Theos A |title=Neurofibromatosis type 1 |journal=J. Am. Acad. Dermatol. |volume=61 |issue=1 |pages=1–14; quiz 15–6 |date=July 2009 |pmid=19539839 |doi=10.1016/j.jaad.2008.12.051 |url=}}</ref>
OR
**≥2 [[Neurofibroma|neurofibromas]]
 
**≥1 [[Plexiform neurofibroma|plexiform neurofibromas]]
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
**≥6 [[Café au lait spot|cafe-au-lait macules]] (>0.5 cm before puberty; >1.5 cm after puberty)
 
**Skinfold freckling
OR
**≥2 [[Lisch nodules]]
 
**Tibial pseudoarthrosis or [[bone]] [[Dysplasia|dysplasias]]
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
**[[Optic pathway glioma]]
**First-degree family relative with [[neurofibromatosis type 1]] clinically diagnosed
*Approximately 46% of the children with a [[NF1]] [[gene]] [[mutation]] may not meet clinical criteria for diagnosis at age 1, but will do so at 8 years old in 97% of the cases, while they all completly fullfill diagnostic criteria by age 20.<ref name="pmid10699117">{{cite journal |vauthors=DeBella K, Szudek J, Friedman JM |title=Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children |journal=Pediatrics |volume=105 |issue=3 Pt 1 |pages=608–14 |date=March 2000 |pmid=10699117 |doi=10.1542/peds.105.3.608 |url=}}</ref><ref name="pmid19539839">{{cite journal |vauthors=Boyd KP, Korf BR, Theos A |title=Neurofibromatosis type 1 |journal=J. Am. Acad. Dermatol. |volume=61 |issue=1 |pages=1–14; quiz 15–6 |date=July 2009 |pmid=19539839 |pmc=2716546 |doi=10.1016/j.jaad.2008.12.051 |url=}}</ref>
*[[Tumors]] may already be present at the time of [[birth]], but often begin to appear at [[puberty]].<ref name="urlscielo.isciii.es2" />


<br />
===Appearance of the Patient===
===Appearance of the Patient===


*Delayed puberty features (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program">{{cite web |url=https://rarediseases.info.nih.gov/diseases/7866/neurofibromatosis-type-1 |title=Neurofibromatosis type 1 &#124; Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |format= |work= |accessdate=}}</ref><ref name="pmid17636453">{{cite journal |vauthors=Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G |title=Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors |journal=J Genet Couns |volume=16 |issue=4 |pages=387–407 |date=August 2007 |pmid=17636453 |pmc=6338721 |doi=10.1007/s10897-007-9101-8 |url=}}</ref>
*[[Delayed puberty]] features (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program">{{cite web |url=https://rarediseases.info.nih.gov/diseases/7866/neurofibromatosis-type-1 |title=Neurofibromatosis type 1 &#124; Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |format= |work= |accessdate=}}</ref><ref name="pmid17636453">{{cite journal |vauthors=Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G |title=Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors |journal=J Genet Couns |volume=16 |issue=4 |pages=387–407 |date=August 2007 |pmid=17636453 |pmc=6338721 |doi=10.1007/s10897-007-9101-8 |url=}}</ref>
*Cognitive imapirment (present in 80 to 99% of the individuals)<ref>Hyman, SL. et al.(2005). The Nature and Frequency of Cognitive Deficits in Children with Neurofibromatosis Type 1. Neurology, 65, 1037-1044.</ref><ref>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.</ref><ref name="pmid17636453" />
*[[Cognitive impairment]] (present in 80 to 99% of the individuals)<ref>Hyman, SL. et al.(2005). The Nature and Frequency of Cognitive Deficits in Children with Neurofibromatosis Type 1. Neurology, 65, 1037-1044.</ref><ref>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.</ref><ref name="pmid17636453" />
*Ataxic (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Ataxia|Ataxic]] (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Genu valgum (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Genu valgum]] (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Speech impairment (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*Speech impairment (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*High stature (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*High stature (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Low stature (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*Short stature (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Abnormal hair quantity (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*Abnormal [[hair]] quantity (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Precocious puberty features (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Precocious puberty]] features (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />


===Vital Signs===
===Vital Signs===


*High blood pressure with normal pulse pressure (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[High blood pressure]] with normal pulse pressure (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />


===Skin===
===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.<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid9128932">{{cite journal |vauthors=Friedman JM, Birch PH |title=Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients |journal=Am. J. Med. Genet. |volume=70 |issue=2 |pages=138–43 |date=May 1997 |pmid=9128932 |doi=10.1002/(sici)1096-8628(19970516)70:2<138::aid-ajmg7>3.0.co;2-u |url=}}</ref><ref name="pmid26564071">{{cite journal |vauthors=Anderson JL, Gutmann DH |title=Neurofibromatosis type 1 |journal=Handb Clin Neurol |volume=132 |issue= |pages=75–86 |date=2015 |pmid=26564071 |doi=10.1016/B978-0-444-62702-5.00004-4 |url=}}</ref><ref>{{cite journal|doi=10.1002/(SICI)1096-8628(19990326)89:1<23::AID-AJMG6>3.0.CO;2-%23}}</ref><ref name="pmid28230061">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid17636453" />
*[[Neurofibroma|Neurofibromas]] are the most common type of [[tumor]] in [[neurofibromatosis type 1]] (present in 80–99% of the individuals). [[Skin]] [[Neurofibroma|neurofibromas]] can be classified as [[pedunculated]], [[subcutaneous]], or [[sessile]].<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid9128932">{{cite journal |vauthors=Friedman JM, Birch PH |title=Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients |journal=Am. J. Med. Genet. |volume=70 |issue=2 |pages=138–43 |date=May 1997 |pmid=9128932 |doi=10.1002/(sici)1096-8628(19970516)70:2<138::aid-ajmg7>3.0.co;2-u |url=}}</ref><ref name="pmid26564071">{{cite journal |vauthors=Anderson JL, Gutmann DH |title=Neurofibromatosis type 1 |journal=Handb Clin Neurol |volume=132 |issue= |pages=75–86 |date=2015 |pmid=26564071 |doi=10.1016/B978-0-444-62702-5.00004-4 |url=}}</ref><ref>{{cite journal|doi=10.1002/(SICI)1096-8628(19990326)89:1<23::AID-AJMG6>3.0.CO;2-%23}}</ref><ref name="pmid28230061">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid17636453" />
*Plexiform neurofibromas are potentialy malignant.They have been described as “a bag of worms”  (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid18559970">{{cite journal |vauthors=Mautner VF, Asuagbor FA, Dombi E, Fünsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM |title=Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1 |journal=Neuro-oncology |volume=10 |issue=4 |pages=593–8 |date=August 2008 |pmid=18559970 |pmc=2666233 |doi=10.1215/15228517-2008-011 |url=}}</ref><ref name="pmid26564071" /><ref name="pmid28230061" />
*[[Plexiform neurofibroma|Plexiform neurofibromas]] are potentialy [[malignant]].They have been described as “a bag of worms”  (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid18559970">{{cite journal |vauthors=Mautner VF, Asuagbor FA, Dombi E, Fünsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM |title=Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1 |journal=Neuro-oncology |volume=10 |issue=4 |pages=593–8 |date=August 2008 |pmid=18559970 |pmc=2666233 |doi=10.1215/15228517-2008-011 |url=}}</ref><ref name="pmid26564071" /><ref name="pmid28230061" /><ref name="pmid12011145">{{cite journal |vauthors=Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A |title=Malignant peripheral nerve sheath tumours in neurofibromatosis 1 |journal=J. Med. Genet. |volume=39 |issue=5 |pages=311–4 |date=May 2002 |pmid=12011145 |doi=10.1136/jmg.39.5.311 |url=}}</ref>
*Generalized hyperpigmentation (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*Generalized [[hyperpigmentation]] (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17668375">{{cite journal |vauthors=Maertens O, De Schepper S, Vandesompele J, Brems H, Heyns I, Janssens S, Speleman F, Legius E, Messiaen L |title=Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1 |journal=Am. J. Hum. Genet. |volume=81 |issue=2 |pages=243–51 |date=August 2007 |pmid=17668375 |doi=10.1086/519562 |url=}}</ref>


*Cafe au lait spots  (present in 80 to 99% of the individuals)<ref name="pmid28230061" /><ref name="pmid17636453" />
*[[Café au lait spot|Cafe au lait spots]] (present in 80 to 99% of the individuals)<ref name="pmid28230061" /><ref name="pmid17636453" /><ref name="pmid10365918">{{cite journal |vauthors=Landau M, Krafchik BR |title=The diagnostic value of café-au-lait macules |journal=J. Am. Acad. Dermatol. |volume=40 |issue=6 Pt 1 |pages=877–90; quiz 891–2 |date=June 1999 |pmid=10365918 |doi=10.1016/s0190-9622(99)70075-7 |url=}}</ref>
*Lipomas  (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*[[Lipomas]] (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*Macules  (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Macules]] (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Melanocytic nevus  (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Melanocytic nevus]] (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Hypopigmented skin patches (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Hypopigmentation|Hypopigmented]] skin patches (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Hypertrophy of fungiform papillae (present in 5 to 29% of the individuals)<ref name="urlscielo.isciii.es">{{cite web |url=http://scielo.isciii.es/pdf/odonto/v21n5/original1.pdf |title=scielo.isciii.es |format= |work= |accessdate=}}</ref>
*[[Hypertrophy]] of [[Fungiform papilla|fungiform papillae]] (present in 5 to 29% of the individuals)<ref name="urlscielo.isciii.es">{{cite web |url=http://scielo.isciii.es/pdf/odonto/v21n5/original1.pdf |title=scielo.isciii.es |format= |work= |accessdate=}}</ref>
*Bruises (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Bruises]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Skin freckling (present in 5 to 29% of the individuals)<ref name="pmid28230061" />
*[[Skin]] freckling (present in 5 to 29% of the individuals)<ref name="pmid28230061" /><ref name="pmid3145091">{{cite journal |vauthors=Huson SM, Harper PS, Compston DA |title=Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales |journal=Brain |volume=111 ( Pt 6) |issue= |pages=1355–81 |date=December 1988 |pmid=3145091 |doi=10.1093/brain/111.6.1355 |url=}}</ref>


===HEENT===
===HEENT===


*Lisch nodules (present in 80 to 99% of the individuals)<ref name="pmid28230061" /><ref name="pmid17636453" />
*[[Lisch nodules]] (present in 80 to 99% of the individuals)<ref name="pmid28230061" /><ref name="pmid17636453" /><ref name="pmid3103673">{{cite journal |vauthors=Huson S, Jones D, Beck L |title=Ophthalmic manifestations of neurofibromatosis |journal=Br J Ophthalmol |volume=71 |issue=3 |pages=235–8 |date=March 1987 |pmid=3103673 |doi=10.1136/bjo.71.3.235 |url=}}</ref>
*Hearing impairment (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*[[Hearing impairment]] (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*Heterochromia iridis (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Heterochromia iridis]] (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Proptosis (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*[[Proptosis]] (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*Hidrocephalus (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Hydrocephalus]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Macrocephaly (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Macrocephaly]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Abnormal electroretinogram (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*Abnormal [[electroretinogram]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Abnormal eyelid morphology (present in 5 to 29% of the individuals)<ref name="pmid28230061" />
*Abnormal [[eyelid]] [[morphology]] (present in 5 to 29% of the individuals)<ref name="pmid28230061" />
*Abnormality of retinal pigmentation (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*Abnormality of [[retinal]] [[pigmentation]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Cataract (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*[[Cataract]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*Chorioretinal coloboma (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*Chorioretinal [[coloboma]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*Corneal opacity (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Corneal]] opacity (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Glaucoma (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*[[Glaucoma]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*Myopia (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*[[Myopia]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*Hypertelorism (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Hypertelorism]] (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Optic nerve glioma (present in 1 to 4% of the individuals)<ref name="pmid28230061" />
*[[Optic nerve glioma]] (present in 1 to 4% of the individuals)<ref name="pmid28230061" />


===Neck===
===Neck===


*Parathyroid adenoma (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Parathyroid adenoma]] (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />


===Chest===
===Chest===


*Respiratory system anomalies (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Respiratory system]] anomalies (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Pectus excavatum (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Pectus excavatum]] (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Breast cancer (present in 1 to 4% of the individuals)<ref name="pmid28230061" />
*[[Breast cancer]] (present in 1 to 4% of the individuals)<ref name="pmid28230061" />


===Cardiovascular===
===Cardiovascular===


*Arterial stenosis (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*[[Arterial]] [[stenosis]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Hypsarrhythmia (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  


===Abdomen===
===Abdomen===


*Neoplasm of the gastrointestinal tract (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Neoplasm]] of the [[gastrointestinal tract]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Pheochromocytoma (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Pheochromocytoma]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />


===Back===
===Back===


*Scoliosis (present in 5 to 29% of the individuals)<ref name="pmid28230061" /><ref name="pmid17636453" />
*[[Scoliosis]] (present in 5 to 29% of the individuals)<ref name="pmid28230061" /><ref name="pmid17636453" />
*Kyphosis (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Kyphosis]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Spina bifida (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> <ref name="pmid17636453" />
*[[Spina bifida]] (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> <ref name="pmid17636453" />


===Genitourinary===
===Genitourinary===


*Cryptorchidism (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*[[Cryptorchidism]] (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*Abnormality of the upper urinary tract (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*Abnormality of the upper [[urinary tract]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Urinary tract neoplasm (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Urinary tract]] [[neoplasm]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Renal artery stenosis (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Renal artery]] [[stenosis]] (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />


===Neuromuscular===
===Neuromuscular===


*Paresthesia (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Paresthesia|Paresthesias]] (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />


===Extremities===
===Extremities===


*Genu valgum (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Genu valgum]] (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Slender long bones (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*Slender [[long bones]] (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" />
*Skeletal dysplasia (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" /><ref name="urlscielo.isciii.es" />
*[[Skeletal]] [[dysplasia]] (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" /><ref name="urlscielo.isciii.es" /><ref name="pmid15988556">{{cite journal |vauthors=Lammert M, Kappler M, Mautner VF, Lammert K, Störkel S, Friedman JM, Atkins D |title=Decreased bone mineral density in patients with neurofibromatosis 1 |journal=Osteoporos Int |volume=16 |issue=9 |pages=1161–6 |date=September 2005 |pmid=15988556 |doi=10.1007/s00198-005-1940-2 |url=}}</ref>
*Joint stiffness (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />  
*[[Joint stiffness]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Tibial pseudarthrosis  (present in 1 to 4% of the individuals)<ref name="pmid28230061" />
*[[Tibial]] [[pseudarthrosis]] (present in 1 to 4% of the individuals)<ref name="pmid28230061" />


<br />
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Latest revision as of 14:41, 1 September 2020

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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

Neurofibromatosis type 1 physical examination may vary widely among patients. The most common features are the presence of neurofibromas, plexiform neurofibromas, Lisch nodules, cafe au lait macules (CALM), delayed puberty features, and cognitive impairment. Neurofibromatosis type 1 may be diagnosed clinically with great specificity and sensitivity by the presence of 2 characteristic features on physical examination, although many children with the NF1 gene mutation may not meet the criteria at age 1, but will do so at 8 years old in 97% of the cases.

Physical Examination


Appearance of the Patient

  • Delayed puberty features (present in 80 to 99% of the individuals)[6][7]
  • Cognitive impairment (present in 80 to 99% of the individuals)[8][9][7]
  • Ataxic (present in 30 to 79% of the individuals)[6]
  • Genu valgum (present in 30 to 79% of the individuals)[6]
  • Speech impairment (present in 30 to 79% of the individuals)[6]
  • High stature (present in 30 to 79% of the individuals)[6]
  • Short stature (present in 5 to 29% of the individuals)[6]
  • Abnormal hair quantity (present in 5 to 29% of the individuals)[6]
  • Precocious puberty features (present in 5 to 29% of the individuals)[6]

Vital Signs

Skin

HEENT

Neck

Chest

Cardiovascular

Abdomen

Back

Genitourinary

Neuromuscular

Extremities


References

  1. ↑ 1.0 1.1 1.2 1.3 "scielo.isciii.es" (PDF).
  2. ↑ Cimino PJ, Gutmann DH (2018). "Neurofibromatosis type 1". Handb Clin Neurol. 148: 799–811. doi:10.1016/B978-0-444-64076-5.00051-X. PMID 29478615.
  3. ↑ Boyd KP, Korf BR, Theos A (July 2009). "Neurofibromatosis type 1". J. Am. Acad. Dermatol. 61 (1): 1–14, quiz 15–6. doi:10.1016/j.jaad.2008.12.051. PMID 19539839.
  4. ↑ DeBella K, Szudek J, Friedman JM (March 2000). "Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children". Pediatrics. 105 (3 Pt 1): 608–14. doi:10.1542/peds.105.3.608. PMID 10699117.
  5. ↑ Boyd KP, Korf BR, Theos A (July 2009). "Neurofibromatosis type 1". J. Am. Acad. Dermatol. 61 (1): 1–14, quiz 15–6. doi:10.1016/j.jaad.2008.12.051. PMC 2716546. PMID 19539839.
  6. ↑ 6.00 6.01 6.02 6.03 6.04 6.05 6.06 6.07 6.08 6.09 6.10 6.11 6.12 6.13 6.14 6.15 6.16 6.17 6.18 6.19 6.20 6.21 6.22 6.23 6.24 6.25 6.26 6.27 6.28 6.29 6.30 6.31 6.32 6.33 6.34 6.35 6.36 6.37 6.38 6.39 6.40 6.41 6.42 6.43 6.44 6.45 6.46 "Neurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
  7. ↑ 7.00 7.01 7.02 7.03 7.04 7.05 7.06 7.07 7.08 7.09 7.10 7.11 7.12 7.13 7.14 7.15 7.16 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.
  8. ↑ Hyman, SL. et al.(2005). The Nature and Frequency of Cognitive Deficits in Children with Neurofibromatosis Type 1. Neurology, 65, 1037-1044.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 11.0 11.1 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.
  12. ↑ . doi:10.1002/(SICI)1096-8628(19990326)89:1<23::AID-AJMG6>3.0.CO;2-%23. Missing or empty |title= (help)
  13. ↑ 13.0 13.1 13.2 13.3 13.4 13.5 13.6 13.7 13.8 13.9 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.
  14. ↑ 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.
  15. ↑ Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A (May 2002). "Malignant peripheral nerve sheath tumours in neurofibromatosis 1". J. Med. Genet. 39 (5): 311–4. doi:10.1136/jmg.39.5.311. PMID 12011145.
  16. ↑ Maertens O, De Schepper S, Vandesompele J, Brems H, Heyns I, Janssens S, Speleman F, Legius E, Messiaen L (August 2007). "Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1". Am. J. Hum. Genet. 81 (2): 243–51. doi:10.1086/519562. PMID 17668375.
  17. ↑ Landau M, Krafchik BR (June 1999). "The diagnostic value of café-au-lait macules". J. Am. Acad. Dermatol. 40 (6 Pt 1): 877–90, quiz 891–2. doi:10.1016/s0190-9622(99)70075-7. PMID 10365918.
  18. ↑ 18.0 18.1 "scielo.isciii.es" (PDF).
  19. ↑ Huson SM, Harper PS, Compston DA (December 1988). "Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales". Brain. 111 ( Pt 6): 1355–81. doi:10.1093/brain/111.6.1355. PMID 3145091.
  20. ↑ Huson S, Jones D, Beck L (March 1987). "Ophthalmic manifestations of neurofibromatosis". Br J Ophthalmol. 71 (3): 235–8. doi:10.1136/bjo.71.3.235. PMID 3103673.
  21. ↑ Lammert M, Kappler M, Mautner VF, Lammert K, Störkel S, Friedman JM, Atkins D (September 2005). "Decreased bone mineral density in patients with neurofibromatosis 1". Osteoporos Int. 16 (9): 1161–6. doi:10.1007/s00198-005-1940-2. PMID 15988556.

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