Progeria physical examination: Difference between revisions
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===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
*Patients with Hutchinson-Gilford progeria syndrome (HGPS) usually appear normal at birth.<ref name="pmid21251803">{{cite journal| author=Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A| title=[Three cases of Hutchinson-Gilford progeria syndrome]. | journal=Arch Pediatr | year= 2011 | volume= 18 | issue= 2 | pages= 156-9 | pmid=21251803 | doi=10.1016/j.arcped.2010.11.014 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21251803 }}</ref> | *Patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) usually appear normal at birth.<ref name="pmid21251803">{{cite journal| author=Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A| title=[Three cases of Hutchinson-Gilford progeria syndrome]. | journal=Arch Pediatr | year= 2011 | volume= 18 | issue= 2 | pages= 156-9 | pmid=21251803 | doi=10.1016/j.arcped.2010.11.014 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21251803 }}</ref> | ||
*Onset of symptoms usally occurs around 6-12 months in patients with Hutchinson-Gilford progeria syndrome (HGPS). | *Onset of symptoms usally occurs around 6-12 months in patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]). | ||
===Vital Signs=== | ===Vital Signs=== | ||
*High blood pressure with normal pulse pressure. | *High [[blood pressure]] with normal [[pulse pressure]]. | ||
===Skin=== | ===Skin=== | ||
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===HEENT=== | ===HEENT=== | ||
* | |||
* Abnormalities of the hair may include | |||
* | **Hair loss | ||
* | **Baldness | ||
* | |||
*progressive eyelashes loss | |||
* Facial features are very characteristic in patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) which include: | |||
**Circumoral cyanosis with Thin lips | |||
**Prominent scalp veins | |||
**Prominent eyes | |||
**Beaked nose | |||
**pseudo hydrocephalus | |||
**Micrognathia(undersized jaw) | |||
**Retrognathia(abnormal posterior positioning of the maxilla or mandible) | |||
**Protruding ears with absent lobes | |||
**Frontal and parietal bossing | |||
**Large anterior fontanel | |||
* [[Nystagmus]] | * [[Nystagmus]] | ||
* Extra-ocular movements may be abnormal | * Extra-ocular movements may be abnormal | ||
Revision as of 15:29, 29 July 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [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 [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
- Patients with Hutchinson-Gilford progeria syndrome (HGPS) usually appear normal at birth.[1]
- Onset of symptoms usally occurs around 6-12 months in patients with Hutchinson-Gilford progeria syndrome (HGPS).
Vital Signs
- High blood pressure with normal pulse pressure.
Skin
- Skin examination of patients with Hutchinson-Gilford progeria syndrome (HGPS) shows the following:[2][3]
- Skin atrophy
- Skin dryness
- Focal sclerotic and areas of laxity and outpouching of the skin
- Intermittent hyperpigmentation along with hypopigmentation on the skin
- Patients have indurated, shiny, inelastic skin
- Aged-appearing skin due to the following:
- Loss of subcutaneous fat(most commonly on the hands and fee)
HEENT
- Abnormalities of the hair may include
- Hair loss
- Baldness
- progressive eyelashes loss
- Facial features are very characteristic in patients with Hutchinson-Gilford progeria syndrome (HGPS) which include:
- Circumoral cyanosis with Thin lips
- Prominent scalp veins
- Prominent eyes
- Beaked nose
- pseudo hydrocephalus
- Micrognathia(undersized jaw)
- Retrognathia(abnormal posterior positioning of the maxilla or mandible)
- Protruding ears with absent lobes
- Frontal and parietal bossing
- Large anterior fontanel
- 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
- Neck examination of patients with [disease name] is usually normal.
OR
- 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
- 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
- Abdominal distension
- 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 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 [disease name] is usually normal.
OR
- A pelvic/adnexal mass may be palpated
- Inflamed mucosa
- Clear/(color), foul-smelling/odorless penile/vaginal discharge
Neuromuscular
- Neuromuscular examination of patients with [disease name] is usually normal.
OR
- 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 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
References
- ↑ Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A (2011). "[Three cases of Hutchinson-Gilford progeria syndrome]". Arch Pediatr. 18 (2): 156–9. doi:10.1016/j.arcped.2010.11.014. PMID 21251803.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301300.
- ↑ Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB; et al. (2008). "Phenotype and course of Hutchinson-Gilford progeria syndrome". N Engl J Med. 358 (6): 592–604. doi:10.1056/NEJMoa0706898. PMC 2940940. PMID 18256394.