FACE - FACIES FACE - FACIES

Neck- thyroidNeck- thyroid

ObjectivesObjectives:: To correlate specific changes of the face To correlate specific changes of the face

with a pathologic cond/diseasewith a pathologic cond/disease To be able to identify the changes of the To be able to identify the changes of the

thyroid (insp, palpation, auscultation)thyroid (insp, palpation, auscultation)

Structure:Structure: Faces- changesFaces- changes Physical exam of thyroidPhysical exam of thyroid

FaceFace

““Perhaps nothing is so eloquent and Perhaps nothing is so eloquent and significant as the human face. Looking at significant as the human face. Looking at one another is our most basic form of one another is our most basic form of conversation, and wherever people meet in conversation, and wherever people meet in a primary or face-to-face relationship it is a primary or face-to-face relationship it is the face, which is generally the center of the face, which is generally the center of attention. attention.

It is the source of vocal communication, the It is the source of vocal communication, the expressor of emotions, and the revealer of expressor of emotions, and the revealer of personality traits.personality traits. The face is the person The face is the person him/herself.him/herself.““

(Macgregor, 1951(Macgregor, 1951))

AcromegalyAcromegaly akrosakros =="extremities" "extremities"

and and megalosmegalos “ “= = large" large" extremities enlargementextremities enlargement

Excess of growth Excess of growth hormone after puberty hormone after puberty (epiphyseal plate(epiphyseal plate closureclosure)) – pituitary – pituitary adenoma, ectopic secr. adenoma, ectopic secr. (pancreas, lung cancer)(pancreas, lung cancer)

enlargement of the enlargement of the hands, feet, nose, lips hands, feet, nose, lips and ears, and a general and ears, and a general thickening of the skin thickening of the skin

ACROMEGALYACROMEGALY The nose is The nose is

widened and widened and thickened, thickened,

TheThe cheekbones cheekbones are are proeminentproeminent

the forehead the forehead bulgesbulges

Frontal bossingFrontal bossing Teeth gappingTeeth gapping macroglosiamacroglosia

Adenoid faceAdenoid face The mouth is The mouth is

constantly open- to constantly open- to breath breath altered altered mandibular and mandibular and tongue position tongue position

Adenoid face= “Long face Adenoid face= “Long face syndrome”syndrome”

llong lean mid-face ong lean mid-face with high arched with high arched palate and dental palate and dental crowding crowding - - in children in children with chronic nasal with chronic nasal airway obstruction.airway obstruction.

Down syndromeDown syndrome

= = trisomy 21trisomy 21 Mental retardation+ facial changes+ others Mental retardation+ facial changes+ others

changeschanges Microcephaly Microcephaly and abnormal shapeand abnormal shape of the head of the head.. a flatteneda flattened nose nose, protruding, protruding tongue tongue, and , and

upward slanting eyes. upward slanting eyes. The inner corner of the eyes may have a The inner corner of the eyes may have a

rounded fold of skinrounded fold of skin= = epicanthal fold short short hands, hands, short fingers, a single crease in short fingers, a single crease in

thethe palm palm.. poss. cardiac malf., gastrointestinal poss. cardiac malf., gastrointestinal

abnormalities, increased freq. of leukemia abnormalities, increased freq. of leukemia

MyxedemaMyxedema can be caused by permanent loss or can be caused by permanent loss or

atrophy of functional thyroid tissue atrophy of functional thyroid tissue (primary hypothyroidism),(primary hypothyroidism),

insufficient stimulation of a normal insufficient stimulation of a normal thyroid gland by as a result of thyroid gland by as a result of hypothalamic or pituitary disease hypothalamic or pituitary disease (secondary hypothyroidism, often (secondary hypothyroidism, often accompanied by compensatory accompanied by compensatory thyroid gland enlargement)thyroid gland enlargement)

White full moon faceWhite full moon face Herzoghe sign= absence of hair in Herzoghe sign= absence of hair in

the ext part of the eyebrowthe ext part of the eyebrow

non-pitting edema- pretibialnon-pitting edema- pretibial Dry, colDry, coldd skin skin BradycardiaBradycardia HypothermiaHypothermia comacoma

CushingCushing sdr. sdr.

prolonged exposure to elevated prolonged exposure to elevated levels of either endogenous levels of either endogenous glucocorticoids glucocorticoids ((adrenocortical adrenocortical neoplasm neoplasm --usually an adenoma and usually an adenoma and rarely a carcinomararely a carcinoma)) or exogenous or exogenous glucocorticoids (therapy with glucocorticoids (therapy with cortizon) cortizon)

Red moon face, facial plethora,Red moon face, facial plethora, supraclavicular fat pads, supraclavicular fat pads, buffalo hump, buffalo hump, truncal (abdominal) obesity,truncal (abdominal) obesity, red-purple striaered-purple striae HypertensionHypertension Diabetes Diabetes

SCLERODERMASCLERODERMA The American College of Rheumatology (ACR)The American College of Rheumatology (ACR): :

systemic sclerosis require systemic sclerosis require one major criterionone major criterion or or two minortwo minor criteria criteria::

Major criterion: Major criterion: symmetric thickening, symmetric thickening,

tightening, and induration of the skin of the tightening, and induration of the skin of the fingers or may affect the entire extremity, face, fingers or may affect the entire extremity, face, neck, and trunk neck, and trunk

Minor criteriaMinor criteria Sclerodactyly includes the above major criterion Sclerodactyly includes the above major criterion

limited to the fingers.limited to the fingers. Digital pitting scars or a loss of substance from the Digital pitting scars or a loss of substance from the

finger padfinger pad pulmonary fibrosis - a bilateral reticular pattern or pulmonary fibrosis - a bilateral reticular pattern or

“honeycomb” lung“honeycomb” lung

Joints pain, muscle weaknessJoints pain, muscle weakness Gastrointestinal manif.- motilityGastrointestinal manif.- motility Raynaud phenom. Raynaud phenom. (Pallor, Cyanosis,Redness)(Pallor, Cyanosis,Redness) Face:Face:

Immobile- Immobile- expressionless expressionless (icon, bird of prey)(icon, bird of prey) ““pinched nose”pinched nose” Microstomia (small mouth) Microstomia (small mouth)

Scleroderma en ‘coup de sabre”Scleroderma en ‘coup de sabre” (cut of sword)- is (cut of sword)- is confined to one side of the face confined to one side of the face (deep lesions); (deep lesions); common: common: central nervous system involvement central nervous system involvement

Limited scleroderma= Limited scleroderma= morphea: morphea: mainly affects the mainly affects the hands, arms and facehands, arms and face; common- ; common- pulmonary pulmonary hypertensionhypertension

CREST form:CREST form: calcinosis, Raynaud, esophageal calcinosis, Raynaud, esophageal dysmotility, sclerodactily, teleangiectsis dysmotility, sclerodactily, teleangiectsis

Lupus erythematosusLupus erythematosus- autoimmune disease with systemic involvement !!!disease with systemic involvement !!!

The revised criteria for SLE must include The revised criteria for SLE must include 4 of the following at any time during a patient's history (specificity 95% and at any time during a patient's history (specificity 95% and sensitivity 75%): sensitivity 75%):

Malar rash Malar rash Discoid rash Discoid rash Photosensitivity Photosensitivity Oral ulcers Oral ulcers Arthritis Arthritis Serositis Serositis Renal disorder Renal disorder Neurologic disorder Neurologic disorder Hematologic disorder Hematologic disorder Immunologic disorder Immunologic disorder Antinuclear antibody Antinuclear antibody

dermatomyositisdermatomyositis is an idiopathic inflammatory myopathy is an idiopathic inflammatory myopathy

with characteristic skin changes with characteristic skin changes Dermatomyositis is a disease that Dermatomyositis is a disease that

primarily affects the primarily affects the skin and the musclesskin and the muscles but may affect other organ systems.but may affect other organ systems.

The characteristic, and possibly The characteristic, and possibly pathognomonic, dermatomyositis are pathognomonic, dermatomyositis are heliotrope rashheliotrope rash and and Gottron Gottron papules. papules.

other cutaneous features: other cutaneous features: malar erythema, poikiloderma (variegated telangiectasia, (variegated telangiectasia, hyperpigmentation) in a photosensitive hyperpigmentation) in a photosensitive distribution, violaceous erythema on the distribution, violaceous erythema on the extensor surfacesextensor surfaces

The heliotrope rash consists of a violaceous-to-The heliotrope rash consists of a violaceous-to-dusky erythematous rash with or without edema dusky erythematous rash with or without edema in a symmetrical distribution involving periorbital in a symmetrical distribution involving periorbital skin. Sometimes, this sign is subtle and may skin. Sometimes, this sign is subtle and may involve only a mild discoloration along the eyelid involve only a mild discoloration along the eyelid margin; its presence is highly suggestive of margin; its presence is highly suggestive of dermatomyositis !dermatomyositis !

The Gottron papules are found over bony The Gottron papules are found over bony prominences, particularly the prominences, particularly the metacarpophalangeal joints, the proximal metacarpophalangeal joints, the proximal interphalangeal joints, and/or the distal interphalangeal joints, and/or the distal interphalangeal joints. Papules may also be found interphalangeal joints. Papules may also be found overlying the elbows, knees, and/or feet. overlying the elbows, knees, and/or feet. = slightly elevated violaceous papules and plaques. These = slightly elevated violaceous papules and plaques. These

lesions may resemble lesions of lupus erythematosus, lesions may resemble lesions of lupus erythematosus, psoriasispsoriasis

Muscle disease manifests as a proximal symmetrical Muscle disease manifests as a proximal symmetrical muscle weakness. Patients may have difficulty rising from a muscle weakness. Patients may have difficulty rising from a chair or squatting and raising themselves from this position. chair or squatting and raising themselves from this position. Often, the extensor muscles of the arms are more affected Often, the extensor muscles of the arms are more affected than the flexors. Muscle tenderness could be also found.than the flexors. Muscle tenderness could be also found.

Calcinosis of the skin or muscle may occur in 40% of Calcinosis of the skin or muscle may occur in 40% of children or adolescents children or adolescents Calcinosis cutis is manifested by firm, yellow- or flesh-colored Calcinosis cutis is manifested by firm, yellow- or flesh-colored

nodules, often over bony prominences; secondary infection nodules, often over bony prominences; secondary infection may occur.may occur.

Joint swelling - the small joints of the hands are most Joint swelling - the small joints of the hands are most frequently involved. The arthritis associated with frequently involved. The arthritis associated with dermatomyositis is not erosive or deforming.dermatomyositis is not erosive or deforming.

Patients with pulmonary disease may have abnormal breath Patients with pulmonary disease may have abnormal breath sounds (crackles from interstitial fibrosis or pneumonitis).sounds (crackles from interstitial fibrosis or pneumonitis).

Patients with an associated malignancy may have physical Patients with an associated malignancy may have physical findings relevant to location.findings relevant to location.

Basedow Graves - Basedow Graves - exophtalmusexophtalmus

Tetanos: Tetanos: lockjawlockjaw, risus , risus sardonicussardonicus

Parkinson diseaseParkinson disease

degeneration of degeneration of dopaminergic dopaminergic neurons in the neurons in the nigrostriatal nigrostriatal system. system.

Immobile faceImmobile face

leukemialeukemia

Corvisart face- cardiac Corvisart face- cardiac failurefailure

Mitral stenosisMitral stenosis

diabetesdiabetes

OtherOther changeschanges- xantelasma- xantelasma

The eyeThe eye NystagmusNystagmus: involuntary oscillation of the : involuntary oscillation of the

eyeseyes Horizontal, vertical, rotatoryHorizontal, vertical, rotatory Abnormality of vestibular system and its Abnormality of vestibular system and its

connectionsconnections Jerk nystagmus: peripheral or central etiologyJerk nystagmus: peripheral or central etiology

A slow phase and then a fast corrective phase (the A slow phase and then a fast corrective phase (the direction of the fast phase shows the direction of direction of the fast phase shows the direction of nystagmus)nystagmus)

Periph: unilat. nystagmus away from the affected Periph: unilat. nystagmus away from the affected sideside

Centr: bidirectional nystagmusCentr: bidirectional nystagmus

Examination of visionExamination of vision

Often: cranial nerves II and VII (and Often: cranial nerves II and VII (and their central connections)their central connections)

Inspection Inspection Visual acuity and fieldVisual acuity and field Ocular alignmentOcular alignment Pupillary examPupillary exam Colour visionColour vision ophtalmoscopyophtalmoscopy

Abnormal findingsAbnormal findings Ptosis (droopy eyelid)Ptosis (droopy eyelid)

Claude Bernard Horner syndrome: Claude Bernard Horner syndrome: ptosis, miosis, anhidrosis) – ptosis, miosis, anhidrosis) – compresssion of sympathetic nerv. compresssion of sympathetic nerv. systemsystem

Other causes: myasthenia gravis, Other causes: myasthenia gravis, myopathymyopathy

Periorbital edema:Periorbital edema:

AllergyAllergy Thyroid diseaseThyroid disease Nephrotic syndrome (renal edema)Nephrotic syndrome (renal edema)

Associated with edema of Associated with edema of conjunctiva= chemosisconjunctiva= chemosis

Cornea= the transparent window of Cornea= the transparent window of the eyethe eye Peripheral deposition of lipids= arcus Peripheral deposition of lipids= arcus

senilis (gerontoxon)senilis (gerontoxon) Copper deposition= Kayser Fleisher ring Copper deposition= Kayser Fleisher ring

(Wilson disease)(Wilson disease)

Visual acuity, field- specialistVisual acuity, field- specialist Ocular alignment: Ocular alignment:

Normally parallel in all positions except Normally parallel in all positions except convergenceconvergence

When not: a squintWhen not: a squint A paralytic squint causes A paralytic squint causes diplopiadiplopia= the = the

images are maximally separated and images are maximally separated and squint greatest in the direction of action squint greatest in the direction of action of the paretic muscleof the paretic muscle

Central supression causes Central supression causes amblyopiaamblyopia= = lazy eyelazy eye

Pupillary abnorm.Pupillary abnorm.- The exam: shape, symmetryThe exam: shape, symmetry- Anisocoria= asymmetryAnisocoria= asymmetry- Dilatation= midriasisDilatation= midriasis- The opposite- miosisThe opposite- miosis

The noseThe nose

rhinophymarhinophyma

The earsThe ears

Deafness/ hearing loss:Deafness/ hearing loss: Conductive: due to a process disrupting Conductive: due to a process disrupting

conduction from the outer to the inner conduction from the outer to the inner earear

Sensorineural: due to cochlear or Sensorineural: due to cochlear or neurological damage with impaired neurological damage with impaired speechspeech

Mixed Mixed

Weber test: the base of the vibrating tuning fork Weber test: the base of the vibrating tuning fork on the top of the patient.s head- he will hear on the top of the patient.s head- he will hear the noise in the middle or equally in both earsthe noise in the middle or equally in both ears

Conductive: he will hear loudest in the ear affected Conductive: he will hear loudest in the ear affected (outside sounds are not interfering with it)(outside sounds are not interfering with it)

Sensorineural: loudest in the unaffected earSensorineural: loudest in the unaffected ear

Rinne test: the base is placed on the mastoid Rinne test: the base is placed on the mastoid process till he cannot hear anymore; then place process till he cannot hear anymore; then place quickly close to the external auditory meatus on quickly close to the external auditory meatus on the same side and ask if he can hear it nowthe same side and ask if he can hear it now

If yes= no conduction pblm (air cond. is better then If yes= no conduction pblm (air cond. is better then bone conduction) bone conduction)

Deformities of the earDeformities of the ear CongenitalCongenital

Microtia, anotiaMicrotia, anotia Markedly protruding ears- “bat ears”Markedly protruding ears- “bat ears” Small auricles, absent lobule- Down Small auricles, absent lobule- Down

syndromesyndrome Gouty tophi- deposits of crystalsGouty tophi- deposits of crystals

Symptoms:Symptoms: Tinnitus: subjective sensation of sound Tinnitus: subjective sensation of sound

without auditory stimuluswithout auditory stimulus Vertigo= feeling of the movement of the Vertigo= feeling of the movement of the

surroundingssurroundings Travel sickness, vestibular disordersTravel sickness, vestibular disorders

THYROIDTHYROID

The thyroid: two symmetrical lobes The thyroid: two symmetrical lobes joined by a central isthmus that joined by a central isthmus that normally covers the second and third normally covers the second and third tracheal ringstracheal rings It may extend into the superior It may extend into the superior

mediastinum, or be entirely retrosternal mediastinum, or be entirely retrosternal or located higher in the neck or located higher in the neck

A A goitregoitre = the enlargement of the thyroid = the enlargement of the thyroid glandgland

1. 1. Inspect Inspect the neck from the front and profilethe neck from the front and profile→ → Ask the patient to sit with the neck muscles relaxed and Ask the patient to sit with the neck muscles relaxed and

stand behind the patient. stand behind the patient. → → Look for a thyroid swelling while the patient swallows. Look for a thyroid swelling while the patient swallows. The The

thyroid moves upwards on swallowingthyroid moves upwards on swallowing (it is enveloped in (it is enveloped in the pretracheal fascia attached to the cricoid cartilage)the pretracheal fascia attached to the cricoid cartilage)

2.2.PalpationPalpation: place your hands gently on the front of the : place your hands gently on the front of the

patient's neck with your index fingers touching the skinpatient's neck with your index fingers touching the skinAsk the patient to swallow. Ask the patient to swallow.

3.3.Auscultation:Auscultation: listen with the diaphragm of your listen with the diaphragm of your stethoscope for a thyroid bruit. stethoscope for a thyroid bruit.

→ → Note the size, surface-regular/irregular, Note the size, surface-regular/irregular, consistency, mobility, sensibility, bruit of consistency, mobility, sensibility, bruit of goitregoitre

Abnormal findings:Abnormal findings: Surface- irregular: multinodular goitre Surface- irregular: multinodular goitre Mobility Mobility

Immobile: invasive thyroid cancer, very large Immobile: invasive thyroid cancer, very large goitresgoitres

Consistency. Consistency. A hard consistency – cancer (large, firm lymph A hard consistency – cancer (large, firm lymph

nodes near a goitre also suggest thyroid cancer). nodes near a goitre also suggest thyroid cancer). Fluctuation: compressing the swelling on one side Fluctuation: compressing the swelling on one side

and seeing and feeling if a bulge is created on the and seeing and feeling if a bulge is created on the opposite side. opposite side.

Thyroid bruit: abnormally high blood flow - Thyroid bruit: abnormally high blood flow - hyperthyroidism. hyperthyroidism.

Goitre does NOT mean necessary Goitre does NOT mean necessary hyperthyroidism hyperthyroidism !!!!!!

Graves Disease (Basedow Graves)Graves Disease (Basedow Graves) Autoimmune disease Autoimmune disease (antibodies against TSH (antibodies against TSH

receptor)receptor)

Goiter + hyperthyroidism + Goiter + hyperthyroidism + exophtalmus exophtalmus (protuberance of one or both eyes)(protuberance of one or both eyes) + + non pitting non pitting edemaedema

Hashimoto thyroiditisHashimoto thyroiditis

Autoimmune dis. Autoimmune dis. (autoantibodies against (autoantibodies against thyroid peroxidase, , thyroglobulin and and TSH receptors))

Hypothyroidism- usuallyHypothyroidism- usually weight gain, depression, mania, sensitivity weight gain, depression, mania, sensitivity

to cold, fatigue, panic attacks, bradycardia to cold, fatigue, panic attacks, bradycardia

Take home messagesTake home messages

Changes of the face may suggest a Changes of the face may suggest a specific pathologyspecific pathology

Thyroid enlargement does not mean Thyroid enlargement does not mean necessarily hyperthyroidimnecessarily hyperthyroidim

Thyroid- inspection, palpation and Thyroid- inspection, palpation and auscultationauscultation