Progeria physical examination

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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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