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==Overview==
==Overview==
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
Common physical examination findings of [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) include skin changes, hair changes, eye problems and [[musculoskeletal]] abnormalities.


==Physical Examination==
==Physical Examination==
===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.Ffcgi?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]]).


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===Skin===
===Skin===
*[[File:Hutchinson-Gilford progeria.jpg|thumb|Hutchinson-Gilford progeria male patient (A) showing disproportionately small face in comparison to the head, micrognathia, prominent eyes, both upper eyelids’ retraction, beaked nose, thin lips. (B) Prominent scalp veins, alopecia with grey and sparse hairs, and protruding ears with absent earlobe. Case courtesy by Dr. Shivcharan Lal Chandravanshi et al.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214428/|title=Ocular manifestations in the Hutchinson-Gilford progeria syndrome|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</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 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 dryness
** Skin atrophy
** 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
**Rigid and tense skin with erosions
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**Patients have indurated, shiny, inelastic skin
**Patients have indurated, shiny, inelastic skin
**Aged-appearing skin due to the following:
**Aged-appearing skin due to the following:
***Loss of subcutaneous fat(most commonly on the hands and fee)
***Loss of subcutaneous fat(most commonly on the hands and feet)


===HEENT===
===HEENT===
* Abnormalities of the hair may include  
* Abnormalities of the hair may include  
**Hair loss
**Hair loss
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*progressive eyelashes loss
*progressive eyelashes loss
* fcial 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><ref name="pmid22460337">{{cite journal| author=Ullrich NJ, Silvera VM, Campbell SE, Gordon LB| title=Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome. | journal=AJNR Am J Neuroradiol | year= 2012 | volume= 33 | issue= 8 | pages= 1512-8 | pmid=22460337 | doi=10.3174/ajnr.A3088 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22460337  }}</ref>
* 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><ref name="pmid22460337">{{cite journal| author=Ullrich NJ, Silvera VM, Campbell SE, Gordon LB| title=Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome. | journal=AJNR Am J Neuroradiol | year= 2012 | volume= 33 | issue= 8 | pages= 1512-8 | pmid=22460337 | doi=10.3174/ajnr.A3088 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22460337 }}</ref><ref name="pmid22011502">{{cite journal| author=Chandravanshi SL, Rawat AK, Dwivedi PC, Choudhary P| title=Ocular manifestations in the Hutchinson-Gilford progeria syndrome. | journal=Indian J Ophthalmol | year= 2011 | volume= 59 | issue= 6 | pages= 509-12 | pmid=22011502 | doi=10.4103/0301-4738.86327 | pmc=3214428 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22011502 }}</ref>
**Circumoral cyanosis with Thin lips
**Circumoral cyanosis with Thin lips
**Mouth in O position
**Mouth in O position
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*Eruption of secondary incisors lingually and palatally in the mandible and maxillary area is noticed in patients with HGPS<ref name="pmid17908770">{{cite journal| author=Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD et al.| title=Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. | journal=Pediatrics | year= 2007 | volume= 120 | issue= 4 | pages= 824-33 | pmid=17908770 | doi=10.1542/peds.2007-1357 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17908770  }}</ref>
*Eruption of secondary incisors lingually and palatally in the mandible and maxillary area is noticed in patients with HGPS<ref name="pmid17908770">{{cite journal| author=Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD et al.| title=Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. | journal=Pediatrics | year= 2007 | volume= 120 | issue= 4 | pages= 824-33 | pmid=17908770 | doi=10.1542/peds.2007-1357 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17908770  }}</ref>
*Dental crowding and dental caries
*Dental crowding and dental caries
 
[[File:Hutchinson-Gilford progeria.jpg|thumb|Hutchinson-Gilford progeria male patient (A) showing disproportionately small face in comparison to the head, micrognathia, prominent eyes, both upper eyelids’ retraction, beaked nose, thin lips. (B) Prominent scalp veins, alopecia with grey and sparse hairs, and protruding ears with absent earlobe. Case courtesy by Dr. Shivcharan Lal Chandravanshi et al.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214428/|title=Ocular manifestations in the Hutchinson-Gilford progeria syndrome|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]<br />
[[File:Dental crowding and dental caries.jpg|alt=Dental crowding and dental caries|center|thumb|A) Upper jaw dental crowding and dental caries (B) Lower jaw dental crowding and dental caries. Case courtesy by Shivcharan L Chandravanshi<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214428/|title=Ocular manifestations in the Hutchinson-Gilford progeria syndrome|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
<br />
===Neck===
===Neck===
* Neck examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually normal.
* Neck examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually normal.

Latest revision as of 14:00, 12 August 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

Common physical examination findings of Hutchinson-Gilford progeria syndrome (HGPS) include skin changes, hair changes, eye problems and musculoskeletal abnormalities.

Physical Examination

Appearance of the Patient

Vital Signs

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 feet)

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][7][8]
    • 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[9]
  • Eruption of secondary incisors lingually and palatally in the mandible and maxillary area is noticed in patients with HGPS[10]
  • Dental crowding and dental caries
Hutchinson-Gilford progeria male patient (A) showing disproportionately small face in comparison to the head, micrognathia, prominent eyes, both upper eyelids’ retraction, beaked nose, thin lips. (B) Prominent scalp veins, alopecia with grey and sparse hairs, and protruding ears with absent earlobe. Case courtesy by Dr. Shivcharan Lal Chandravanshi et al.[11]


Dental crowding and dental caries
A) Upper jaw dental crowding and dental caries (B) Lower jaw dental crowding and dental caries. Case courtesy by Shivcharan L Chandravanshi[12]


Neck

Lungs

Heart

Abdomen

Back

Genitourinary

Neuromuscular

Extremities

  • Musculoskeletal abnormalities which include:[13][14][15]
    • 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

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301300.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ Ullrich NJ, Silvera VM, Campbell SE, Gordon LB (2012). "Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome". AJNR Am J Neuroradiol. 33 (8): 1512–8. doi:10.3174/ajnr.A3088. PMID 22460337.
  8. ↑ Chandravanshi SL, Rawat AK, Dwivedi PC, Choudhary P (2011). "Ocular manifestations in the Hutchinson-Gilford progeria syndrome". Indian J Ophthalmol. 59 (6): 509–12. doi:10.4103/0301-4738.86327. PMC 3214428. PMID 22011502.
  9. ↑ 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.
  10. ↑ Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD; et al. (2007). "Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development". Pediatrics. 120 (4): 824–33. doi:10.1542/peds.2007-1357. PMID 17908770.
  11. ↑ "Ocular manifestations in the Hutchinson-Gilford progeria syndrome".
  12. ↑ "Ocular manifestations in the Hutchinson-Gilford progeria syndrome".
  13. ↑ 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
  14. ↑ 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.
  15. ↑ Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, Berns SD; et al. (2007). "Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development". Pediatrics. 120 (4): 824–33. doi:10.1542/peds.2007-1357. PMID 17908770.

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