Neurofibromatosis type 1 physical examination: Difference between revisions

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{{Neurofibromatosis type 1}}
{{Neurofibromatosis type 1}}


{{CMG}}; {{AE}}
{{CMG}}; {{AE}}[[User:MoisesRomo|Moises Romo M.D.]]


==Overview==
==Overview==
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
'''[[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 />
 
OR
 
Common physical examination findings of [disease name] include [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].


==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" />
*[[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>
**≥2 [[Neurofibroma|neurofibromas]]
**≥1 [[Plexiform neurofibroma|plexiform neurofibromas]]
**≥6 [[Café au lait spot|cafe-au-lait macules]] (>0.5 cm before puberty; >1.5 cm after puberty)
**Skinfold freckling
**≥2 [[Lisch nodules]]
**Tibial pseudoarthrosis or [[bone]] [[Dysplasia|dysplasias]]
**[[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" />


Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
<br />
===Appearance of the Patient===


OR
*[[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 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" />
*[[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" />
*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" />
*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" />
*[[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" />


The presence of [finding(s)] on physical examination is diagnostic of [disease name].
===Vital Signs===


OR
*[[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" />


The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
===Skin===
 
===Appearance of the Patient===
*Patients with [disease name] usually appear [general appearance].


===Vital Signs===
*[[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 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" /><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>


*High-grade / low-grade fever
*[[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>
*[[Hypothermia]] / hyperthermia may be present
*[[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" />
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Macules]] (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
*[[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" />
*Tachypnea / bradypnea
*[[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" />
*Kussmal respirations may be present in _____ (advanced disease state)
*[[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>
*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
*[[Bruises]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*High/low blood pressure with normal pulse pressure / [[wide pulse pressure]] / [[narrow pulse pressure]]
*[[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>


===Skin===
===HEENT===
* Skin examination of patients with [disease name] is usually normal.
OR
*[[Cyanosis]]
*[[Jaundice]]
* [[Pallor]]
* Bruises


<gallery widths="150px">
*[[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" />
*[[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" />
*[[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" />
*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" />
*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" />
*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" />
*[[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" />
*[[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" />


UploadedImage-01.jpg | Description {{dermref}}
===Neck===
UploadedImage-02.jpg | Description {{dermref}}


</gallery>
*[[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" />


===HEENT===
===Chest===
* HEENT examination of patients with [disease name] is usually normal.
OR
* Abnormalities of the head/hair may include ___
* Evidence of trauma
* Icteric sclera
* [[Nystagmus]]
* Extra-ocular movements may be abnormal
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
*Ophthalmoscopic exam may be abnormal with findings of ___
* Hearing acuity may be reduced
*[[Weber test]] may be abnormal (Note: A positive Weber test is considered a normal finding / A negative Weber test is considered an abnormal finding. To avoid confusion, you may write "abnormal Weber test".)
*[[Rinne test]] may be positive (Note: A positive Rinne test is considered a normal finding / A negative Rinne test is considered an abnormal finding. To avoid confusion, you may write "abnormal Rinne test".)
* [[Exudate]] from the ear canal
* Tenderness upon palpation of the ear pinnae/tragus (anterior to ear canal)
*Inflamed nares / congested nares
* [[Purulent]] exudate from the nares
* Facial tenderness
* Erythematous throat with/without tonsillar swelling, exudates, and/or petechiae


===Neck===
*[[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" />
* Neck examination of patients with [disease name] is usually normal.
*[[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" />
OR
*[[Breast cancer]] (present in 1 to 4% of the individuals)<ref name="pmid28230061" />
*[[Jugular venous distension]]
*[[Carotid bruits]] may be auscultated unilaterally/bilaterally using the bell/diaphragm of the otoscope
*[[Lymphadenopathy]] (describe location, size, tenderness, mobility, and symmetry)
*[[Thyromegaly]] / thyroid nodules
*[[Hepatojugular reflux]]


===Lungs===
===Cardiovascular===
* Pulmonary examination of patients with [disease name] is usually normal.
OR
* Asymmetric chest expansion OR decreased chest expansion
*Lungs are hyporesonant OR hyperresonant
*Fine/coarse [[crackles]] upon auscultation of the lung bases/apices unilaterally/bilaterally
*Rhonchi
*Vesicular breath sounds OR distant breath sounds
*Expiratory wheezing OR inspiratory wheezing with normal OR delayed expiratory phase
*[[Wheezing]] may be present
*[[Egophony]] present/absent
*[[Bronchophony]] present/absent
*Normal/reduced [[tactile fremitus]]


===Heart===
*[[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" />
* Cardiovascular examination of patients with [disease name] is usually normal.
OR
*Chest tenderness upon palpation
*PMI within 2 cm of the sternum  (PMI) / Displaced point of maximal impulse (PMI) suggestive of ____
*[[Heave]] / [[thrill]]
*[[Friction rub]]
*[[Heart sounds#First heart tone S1, the "lub"(components M1 and T1)|S1]]
*[[Heart sounds#Second heart tone S2 the "dub"(components A2 and P2)|S2]]
*[[Heart sounds#Third heart sound S3|S3]]
*[[Heart sounds#Fourth heart sound S4|S4]]
*[[Heart sounds#Summation Gallop|Gallops]]
*A high/low grade early/late [[systolic murmur]] / [[diastolic murmur]] best heard at the base/apex/(specific valve region) may be heard using the bell/diaphgram of the stethoscope


===Abdomen===
===Abdomen===
* Abdominal examination of patients with [disease name] is usually normal.
 
OR
*[[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" />
*[[Abdominal distension]]  
*[[Pheochromocytoma]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*[[Abdominal tenderness]] in the right/left upper/lower abdominal quadrant
*[[Rebound tenderness]] (positive Blumberg sign)
*A palpable abdominal mass in the right/left upper/lower abdominal quadrant
*Guarding may be present
*[[Hepatomegaly]] / [[splenomegaly]] / [[hepatosplenomegaly]]
*Additional findings, such as obturator test, psoas test, McBurney point test, Murphy test


===Back===
===Back===
* Back examination of patients with [disease name] is usually normal.
 
OR
*[[Scoliosis]] (present in 5 to 29% of the individuals)<ref name="pmid28230061" /><ref name="pmid17636453" />
*Point tenderness over __ vertebrae (e.g. L3-L4)
*[[Kyphosis]] (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" />
*Sacral edema
*[[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" />
*Costovertebral angle tenderness bilaterally/unilaterally
*Buffalo hump


===Genitourinary===
===Genitourinary===
* Genitourinary examination of patients with [disease name] is usually normal.
 
OR
*[[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" />
*A pelvic/adnexal mass may be palpated
*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" />
*Inflamed mucosa
*[[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" />
*Clear/(color), foul-smelling/odorless penile/vaginal discharge
*[[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===
* Neuromuscular examination of patients with [disease name] is usually normal.
 
OR
*[[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" />
*Patient is usually oriented to persons, place, and time
* Altered mental status
* Glasgow coma scale is ___ / 15
* Clonus may be present
* Hyperreflexia / hyporeflexia / areflexia
* Positive (abnormal) Babinski / plantar reflex unilaterally/bilaterally
* Muscle rigidity
* Proximal/distal muscle weakness unilaterally/bilaterally
* ____ (finding) suggestive of cranial nerve ___ (roman numerical) deficit (e.g. Dilated pupils suggestive of CN III deficit)
*Unilateral/bilateral upper/lower extremity weakness
*Unilateral/bilateral sensory loss in the upper/lower extremity
*Positive straight leg raise test
*Abnormal gait (describe gait: e.g. ataxic (cerebellar) gait / steppage gait / waddling gait / choeiform gait / Parkinsonian gait / sensory gait)
*Positive/negative Trendelenburg sign
*Unilateral/bilateral tremor (describe tremor, e.g. at rest, pill-rolling)
*Normal finger-to-nose test / Dysmetria
*Absent/present dysdiadochokinesia (palm tapping test)


===Extremities===
===Extremities===
* Extremities examination of patients with [disease name] is usually normal.
OR
*[[Clubbing]]
*[[Cyanosis]]
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*Muscle atrophy
*Fasciculations in the upper/lower extremity


*[[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" />
*[[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" />
*[[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

Neurofibromatosis type 1 Microchapters

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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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