Progeria physical examination: Difference between revisions
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===Skin=== | ===Skin=== | ||
* Skin examination of patients with Hutchinson-Gilford progeria syndrome (HGPS) shows the following:<ref name="pmid20301300">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al.| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301300 | doi= | pmc= | url= }}</ref><ref name="pmid18256394">{{cite journal| author=Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB et al.| title=Phenotype and course of Hutchinson-Gilford progeria syndrome. | journal=N Engl J Med | year= 2008 | volume= 358 | issue= 6 | pages= 592-604 | pmid=18256394 | doi=10.1056/NEJMoa0706898 | pmc=2940940 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18256394 }}</ref> | * Skin examination of patients with Hutchinson-Gilford progeria syndrome (HGPS) shows the following:<ref name="pmid20301300">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al.| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301300 | doi= | pmc= | url= }}</ref><ref name="pmid9606327">{{cite journal| author=Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF et al.| title=Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. | journal=Arch Dermatol | year= 1998 | volume= 134 | issue= 5 | pages= 577-9 | pmid=9606327 | doi=10.1001/archderm.134.5.577 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9606327 }}</ref><ref name="pmid18256394">{{cite journal| author=Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB et al.| title=Phenotype and course of Hutchinson-Gilford progeria syndrome. | journal=N Engl J Med | year= 2008 | volume= 358 | issue= 6 | pages= 592-604 | pmid=18256394 | doi=10.1056/NEJMoa0706898 | pmc=2940940 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18256394 }}</ref> | ||
**Skin atrophy | **Skin atrophy | ||
**Skin dryness | **Skin dryness | ||
**Focal sclerotic and areas of laxity and outpouching of the skin | **Focal sclerotic and areas of laxity and outpouching of the skin | ||
**Rigid and tense skin with erosions | |||
**Intermittent hyperpigmentation along with hypopigmentation on the skin | **Intermittent hyperpigmentation along with hypopigmentation on the skin | ||
**Patients have indurated, shiny, inelastic skin | **Patients have indurated, shiny, inelastic skin | ||
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*progressive eyelashes loss | *progressive eyelashes loss | ||
* Facial features are very characteristic in patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) which include: | * Facial features are very characteristic in patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) which include:<ref name="pmid96063272">{{cite journal| author=Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF et al.| title=Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. | journal=Arch Dermatol | year= 1998 | volume= 134 | issue= 5 | pages= 577-9 | pmid=9606327 | doi=10.1001/archderm.134.5.577 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9606327 }}</ref> | ||
**Circumoral cyanosis with Thin lips | **Circumoral cyanosis with Thin lips | ||
**Mouth in O position | |||
**Prominent scalp veins | **Prominent scalp veins | ||
**Prominent eyes | **Prominent eyes | ||
**Fixed facial expressions | |||
**Beaked nose | **Beaked nose | ||
**pseudo hydrocephalus | **pseudo hydrocephalus | ||
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* Possible exposure keratopathy | * Possible exposure keratopathy | ||
* Nocturnal lagophthalmos can be noticed in some patients with HGPS | * Nocturnal lagophthalmos can be noticed in some patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) | ||
*Blepharophimosis<ref name="pmid96063273">{{cite journal| author=Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF et al.| title=Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. | journal=Arch Dermatol | year= 1998 | volume= 134 | issue= 5 | pages= 577-9 | pmid=9606327 | doi=10.1001/archderm.134.5.577 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9606327 }}</ref> | |||
*[[Nystagmus]] | *[[Nystagmus]] | ||
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===Heart=== | ===Heart=== | ||
* Cardiovascular examination of patients with [ | * Cardiovascular examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually shows dextrocardia. | ||
OR | OR | ||
*Chest tenderness upon palpation | *Chest tenderness upon palpation | ||
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===Extremities=== | ===Extremities=== | ||
* Musculoskeletal abnormalities which include:<ref name="pmid182563942">Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB et al. (2008) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=18256394 Phenotype and course of Hutchinson-Gilford progeria syndrome.] ''N Engl J Med'' 358 (6):592-604. [http://dx.doi.org/10.1056/NEJMoa0706898 DOI:10.1056/NEJMoa0706898] PMID: [https://pubmed.gov/18256394 18256394]</ref> | * Musculoskeletal abnormalities which include:<ref name="pmid182563942">Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB et al. (2008) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=18256394 Phenotype and course of Hutchinson-Gilford progeria syndrome.] ''N Engl J Med'' 358 (6):592-604. [http://dx.doi.org/10.1056/NEJMoa0706898 DOI:10.1056/NEJMoa0706898] PMID: [https://pubmed.gov/18256394 18256394]</ref><ref name="pmid96063274">{{cite journal| author=Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF et al.| title=Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology. | journal=Arch Dermatol | year= 1998 | volume= 134 | issue= 5 | pages= 577-9 | pmid=9606327 | doi=10.1001/archderm.134.5.577 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9606327 }}</ref> | ||
**Thin limbs with prominent joints | **Thin limbs with prominent joints | ||
**Coxa valga | **Coxa valga | ||
Revision as of 17:06, 30 July 2019
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Progeria Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Progeria physical examination On the Web |
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American Roentgen Ray Society Images of Progeria physical examination |
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Risk calculators and risk factors for Progeria physical examination |
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.[2]
Skin
- Skin examination of patients with Hutchinson-Gilford progeria syndrome (HGPS) shows the following:[3][4][5]
- Skin atrophy
- Skin dryness
- Focal sclerotic and areas of laxity and outpouching of the skin
- Rigid and tense skin with erosions
- 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:[6]
- Circumoral cyanosis with Thin lips
- Mouth in O position
- Prominent scalp veins
- Prominent eyes
- Fixed facial expressions
- 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
- Possible exposure keratopathy
- Nocturnal lagophthalmos can be noticed in some patients with Hutchinson-Gilford progeria syndrome (HGPS)
- Blepharophimosis[7]
- 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 Hutchinson-Gilford progeria syndrome (HGPS) is usually shows dextrocardia.
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
- Musculoskeletal abnormalities which include:[8][9]
- Thin limbs with prominent joints
- Coxa valga
- Measured reductions in joint range of motion
- Osteoarthritis
- Joint contractures
- Pyriform (pear-shaped) thorax
- Bilateral hip dislocations
- Avascular necrosis of the femoral head
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.
- ↑ 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.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301300.
- ↑ Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). "Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology". Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.
- ↑ 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.
- ↑ Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). "Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology". Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.
- ↑ Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). "Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology". Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.
- ↑ 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 PMID: 18256394
- ↑ Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). "Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology". Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.