Cryopyrin-associated periodic syndrome physical examination: Difference between revisions

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==Physical Examination==
==Physical Examination==
Physical examination of patients with [disease name] is usually normal.
*Physical examination of patients with the cryopyrin-associated periodic syndrome (CAPS) is usually remarkable for recurrent episodes of cold-induced fever, urticaria-like painful rash, and arthritis.
 
*The presence of Cold-induced urticarial rash on physical examination is highly suggestive of the cryopyrin-associated periodic syndrome (CAPS).
OR
*The presence of a cold-induced urticarial rash on physical examination is diagnostic of FCAS.
 
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===
===Appearance of the Patient===
*Patients with [disease name] usually appear [general appearance].  
*Patients with the cryopyrin-associated periodic syndrome (CAPS) usually appear normal.  


===Vital Signs===
===Vital Signs===
 
*High-grade fever  
*High-grade / low-grade fever
*[[Tachycardia]] with regular pulse due to the presence of fever
*[[Hypothermia]] / hyperthermia may be present
*Tachypnea
*[[Tachycardia]] with regular pulse or (ir)regularly irregular pulse
*[[Bradycardia]] with regular pulse or (ir)regularly irregular pulse
*Tachypnea / bradypnea
*Kussmal respirations may be present in _____ (advanced disease state)
*Weak/bounding pulse / pulsus alternans / paradoxical pulse / asymmetric pulse
*High/low blood pressure with normal pulse pressure / [[wide pulse pressure]] / [[narrow pulse pressure]]


===Skin===
===Skin===
* Skin examination of patients with [disease name] is usually normal.
*Skin examination of patients with [disease name] indicates the presence of a migratory maculopapular skin rash resembling urticaria.<ref name="AhmadiBrewer2011">{{cite journal|last1=Ahmadi|first1=Neda|last2=Brewer|first2=Carmen C.|last3=Zalewski|first3=Christopher|last4=King|first4=Kelly A.|last5=Butman|first5=John A.|last6=Plass|first6=Nicole|last7=Henderson|first7=Cailin|last8=Goldbach-Mansky|first8=Raphaela|last9=Kim|first9=H. Jeffrey|title=Cryopyrin-Associated Periodic Syndromes|journal=Otolaryngology–Head and Neck Surgery|volume=145|issue=2|year=2011|pages=295–302|issn=0194-5998|doi=10.1177/0194599811402296}}</ref>
OR
*The rash is non-pruritic and usually cold-induced.
*[[Cyanosis]]
*Ice cube test is negative.
*[[Jaundice]]
* [[Pallor]]
* Bruises
 
<gallery widths="150px">
 
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UploadedImage-02.jpg | Description {{dermref}}
 
</gallery>


===HEENT===
===HEENT===
* HEENT examination of patients with [disease name] is usually normal.
*Ophthalmoscopic exam may be abnormal with findings of conjunctivitis.<ref name="AhmadiBrewer2011">{{cite journal|last1=Ahmadi|first1=Neda|last2=Brewer|first2=Carmen C.|last3=Zalewski|first3=Christopher|last4=King|first4=Kelly A.|last5=Butman|first5=John A.|last6=Plass|first6=Nicole|last7=Henderson|first7=Cailin|last8=Goldbach-Mansky|first8=Raphaela|last9=Kim|first9=H. Jeffrey|title=Cryopyrin-Associated Periodic Syndromes|journal=Otolaryngology–Head and Neck Surgery|volume=145|issue=2|year=2011|pages=295–302|issn=0194-5998|doi=10.1177/0194599811402296}}</ref>
OR
*Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) is especially accompanied by eye complications such as:
* Abnormalities of the head/hair may include ___
**Conjunctivitis
* Evidence of trauma
**Corneal haze
* Icteric sclera
**Uveitis
* [[Nystagmus]]
**Iritis
* Extra-ocular movements may be abnormal
**Papilledema
*Pupils non-reactive to light / non-reactive to accommodation / non-reactive to neither light nor accommodation
**Retinal scarring
*Ophthalmoscopic exam may be abnormal with findings of ___
*High arched palate and middle ear effusion have also been reported.
* Hearing acuity may be reduced
*Hearing acuity may be reduced especially in NOMID.
*[[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===
===Neck===
* Neck examination of patients with [disease name] is usually normal.
* Neck examination of patients with [disease name] is suggestive of:
OR
**[[Lymphadenopathy]] ()
*[[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===
===Lungs===
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===Genitourinary===
===Genitourinary===
* Genitourinary examination of patients with [disease name] is usually normal.
*Genitourinary examination of patients with the cryopyrin-associated periodic syndrome is usually normal.
OR
*A pelvic/adnexal mass may be palpated
*Inflamed mucosa
*Clear/(color), foul-smelling/odorless penile/vaginal discharge


===Neuromuscular===
===Neuromuscular===
* Neuromuscular examination of patients with [disease name] is usually normal.
*Neuromuscular examination of patients with the cryopyrin-associated periodic syndrome is suggestive of:
OR
**Signs of elevated intracranial pressure
*Patient is usually oriented to persons, place, and time
**Papilledema
* Altered mental status
*Developmental delay is especially diagnostic for NOMID.  
* 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.
*Extremities examination of patients with the cryopyrin-associated periodic syndrome is usually normal.
OR
*However, deforming arthropathy may occur in NOMID affecting especially distal of femur and patella.
*[[Clubbing]]
*[[Cyanosis]]
*Pitting/non-pitting [[edema]] of the upper/lower extremities
*Muscle atrophy
*Fasciculations in the upper/lower extremity
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 16:19, 10 July 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]

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].

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 of patients with the cryopyrin-associated periodic syndrome (CAPS) is usually remarkable for recurrent episodes of cold-induced fever, urticaria-like painful rash, and arthritis.
  • The presence of Cold-induced urticarial rash on physical examination is highly suggestive of the cryopyrin-associated periodic syndrome (CAPS).
  • The presence of a cold-induced urticarial rash on physical examination is diagnostic of FCAS.

Appearance of the Patient

  • Patients with the cryopyrin-associated periodic syndrome (CAPS) usually appear normal.

Vital Signs

  • High-grade fever
  • Tachycardia with regular pulse due to the presence of fever
  • Tachypnea

Skin

  • Skin examination of patients with [disease name] indicates the presence of a migratory maculopapular skin rash resembling urticaria.[1]
  • The rash is non-pruritic and usually cold-induced.
  • Ice cube test is negative.

HEENT

  • Ophthalmoscopic exam may be abnormal with findings of conjunctivitis.[1]
  • Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) is especially accompanied by eye complications such as:
    • Conjunctivitis
    • Corneal haze
    • Uveitis
    • Iritis
    • Papilledema
    • Retinal scarring
  • High arched palate and middle ear effusion have also been reported.
  • Hearing acuity may be reduced especially in NOMID.

Neck

  • Neck examination of patients with [disease name] is suggestive of:

Lungs

  • 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

  • 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
  • S1
  • S2
  • S3
  • S4
  • 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

  • Abdominal examination of patients with [disease name] is usually normal.

OR

Back

  • Back examination of patients with [disease name] is usually normal.

OR

  • Point tenderness over __ vertebrae (e.g. L3-L4)
  • Sacral edema
  • Costovertebral angle tenderness bilaterally/unilaterally
  • Buffalo hump

Genitourinary

  • Genitourinary examination of patients with the cryopyrin-associated periodic syndrome is usually normal.

Neuromuscular

  • Neuromuscular examination of patients with the cryopyrin-associated periodic syndrome is suggestive of:
    • Signs of elevated intracranial pressure
    • Papilledema
  • Developmental delay is especially diagnostic for NOMID.

Extremities

  • Extremities examination of patients with the cryopyrin-associated periodic syndrome is usually normal.
  • However, deforming arthropathy may occur in NOMID affecting especially distal of femur and patella.

References

  1. ↑ 1.0 1.1 Ahmadi, Neda; Brewer, Carmen C.; Zalewski, Christopher; King, Kelly A.; Butman, John A.; Plass, Nicole; Henderson, Cailin; Goldbach-Mansky, Raphaela; Kim, H. Jeffrey (2011). "Cryopyrin-Associated Periodic Syndromes". Otolaryngology–Head and Neck Surgery. 145 (2): 295–302. doi:10.1177/0194599811402296. ISSN 0194-5998.

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