Progeria physical examination: Difference between revisions
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===Heart=== | ===Heart=== | ||
* Cardiovascular examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually shows dextrocardia. | * Cardiovascular examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually shows dextrocardia. | ||
===Abdomen=== | ===Abdomen=== | ||
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===Back=== | ===Back=== | ||
* Back examination of patients with [ | * Back examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually normal. | ||
===Genitourinary=== | ===Genitourinary=== | ||
* Genitourinary examination of patients with [ | * Genitourinary examination of patients with [[Hutchinson-Gilford progeria syndrome]] ([[HGPS]]) is usually normal. | ||
===Neuromuscular=== | ===Neuromuscular=== | ||
Revision as of 16:42, 31 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
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]
- Eruption of secondary incisors lingually and palatally in the mandible and maxillary area is noticed in patients with HGPS[8]
- Dental crowding and dental caries
Neck
- Neck examination of patients with Hutchinson-Gilford progeria syndrome (HGPS) is usually normal.
Lungs
- Pulmonary examination of patients with Hutchinson-Gilford progeria syndrome (HGPS) is usually normal.
Heart
- Cardiovascular examination of patients with Hutchinson-Gilford progeria syndrome (HGPS) is usually shows dextrocardia.
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 Hutchinson-Gilford progeria syndrome (HGPS) is usually normal.
Genitourinary
- Genitourinary examination of patients with Hutchinson-Gilford progeria syndrome (HGPS) is usually normal.
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:[9][10][11]
- 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.