FACE
Facial rash
Atopic eczema
Signs
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Dry, itchy, erythematous thickening of facial skin ( Fig. 15.1 ).
Look for
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Staphylococcal blepharitis.
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Vernal and atopic keratoconjunctivitis.
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Early-onset shield-like cataract.
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Keratoconus.
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Retinal detachment.
Acne rosacea
Signs
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Erythema and papules on the glabella, cheeks, nose and chin ( Fig. 15.2 ).
Look for
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Chronic posterior blepharitis.
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Recurrent chalazion.
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Peripheral keratitis.
Sarcoidosis (lupus pernio)
Signs
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Violaceous lesions with a predilection for the nose ( Fig. 15.3 ).
Look for
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Uveitis.
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Retinal periphlebitis.
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Fundus granulomas.
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Dry eye.
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Conjunctival granulomas.
Systemic lupus erythematosus
Signs
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Erythematous rash involving the cheeks and bridge of the nose with a ‘butterfly’ distribution ( Fig. 15.4 ).
Look for
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Dry eye.
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Peripheral ulcerative keratitis.
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Scleritis.
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Retinopathy.
Dermatomyositis
Signs
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Extensive erythematous rash ( Fig. 15.5 ).
Look for
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Violaceous (heliotrope) eyelid rash and periorbital oedema.
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Dry eye.
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Scleritis.
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Retinopathy.
Tuberous sclerosis (adenoma sebaceum)
Signs
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Red papules on the cheeks and nose ( Fig. 15.6 ).
Look for
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Fundus astrocytomas.
Xeroderma pigmentosum
Signs
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Bird-like facies, and cutaneous atrophy, scaling and pigmentation with a propensity to malignant change ( Fig. 15.7 ).
Look for
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Eyelid and conjunctival malignancies.
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Dry eye.
Facial pigmentary changes
Port wine stain (naevus flammeus)
Signs
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Sharply demarcated, usually unilateral, soft, purple patch which occurs in patients with Sturge–Weber syndrome ( Fig. 15.8 ).
Look for
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Episcleral haemangioma.
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Diffuse choroidal haemangioma.
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Glaucoma.
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Heterochromia iridis.
Naevus of Ota (oculodermal melanocytosis)
Signs
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Unilateral hyperpigmentation of deep facial skin, most frequently in the distribution of the 1st and 2nd divisions of the trigeminal nerve ( Fig. 15.9 ).
Look for
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Episcleral hyperpigmentation.
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Heterochromia iridis.
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Iris mammillations.
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Trabecular hyperpigmentation and glaucoma.
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Fundus hyperpigmentation.
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Uveal melanoma.
Lack of facial expression
Myotonic dystrophy
Signs
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Bilateral facial wasting with hollow cheeks, sagging jaw and ptosis ( Fig. 15.10 ).
Look for
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Early-onset shield-like cataract.
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Light-near dissociation of pupils.
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Mild pigmentary retinopathy.
Myasthenia gravis
Signs
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Myasthenic involvement of muscles of facial expression and ptosis ( Fig. 15.11 ).
Look for
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Ophthalmoplegia, particularly involving elevation.
Systemic sclerosis
Signs
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Shiny tight facial skin due to subcutaneous fibrotic changes, nasal deformity and vertical furrowing of perioral skin ( Fig. 15.12 ).
Look for
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Eyelid scarring.
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Dry eye.
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Retinopathy.
Parkinsonism
Signs
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Sweaty and greasy face with mild lid retraction ( Fig. 15.13 ).
Meretoja syndrome
Signs
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Bilateral facial palsy ( Fig. 15.14 ).
Look for
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Corneal lattice dystrophy type 2.
Möbius syndrome
Signs
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Bilateral facial paresis with the mouth constantly held open ( Fig. 15.15 ).
Look for
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Esotropia.
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Limitation of abduction.
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Horizontal gaze palsy.
Facial spasm
Essential blepharospasm
Signs
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Periodic bilateral involuntary spasm of the orbicularis oculi and upper facial muscles temporally rendering the patients functionally blind ( Fig. 15.16 ).
Facial hemispasm
Signs
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Brief unilateral spasm of the orbicularis oculi and facial muscles ( Fig. 15.17 ).
Facial hirsutism
Cushing syndrome
Signs
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Also moon face and hyperpigmentation ( Fig. 15.18 )
Look for
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Bitemporal hemianopia due to adenoma (Cushing disease).
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Cataract.
Acromegaly
Signs
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Coarse facies ( Fig. 15.19 ).
Look for
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Bitemporal hemianopia due to a pituitary adenoma.
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Optic atrophy.
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Angioid streaks.
Turner syndrome
Signs
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Webbed neck ( Fig. 15.20 ).
Look for
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Keratoconus.
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Blue sclera.
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Cataract.
Porphyria cutanea tarda
Signs
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Bullous skin eruptions and scarring ( Fig. 15.21 ).
Look for
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Cicatrising conjunctivitis.
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Scleritis.
Fair complexion and blond hair
Oculocutaneous albinism
Signs
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Pale skin and blond hair ( Fig. 15.22 ).
Look for
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Nystagmus.
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Iris transillumination.
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Pale fundus and foveal hypoplasia.
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Anomalous chiasmal nerve fibre pathway.
Homocystinuria
Signs
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Coarse fair hair and malar flush (see Fig. 10.16 ).
Look for
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Ectopia lentis.
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Myopia.
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Retinal detachment.
Saddle-shaped nose
Congenital syphilis
Pathogenesis
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Osteitis of the nasal bone ( Fig. 15.23 ).
Look for
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Interstitial keratitis.
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Pigmentary retinopathy.
Wegener granulomatosis
Pathogenesis
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Necrotising granulomatous vasculitis involving the nose ( Fig. 15.24 ).
Look for
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Scleritis.
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Peripheral ulcerative keratitis.
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Orbital involvement.
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Nasolacrimal duct obstruction.
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Retinopathy.
Relapsing polychondritis
Pathogenesis
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Recurrent inflammatory swelling, destruction and collapse of nasal cartilage ( Fig. 15.25 ).
Look for
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Scleritis.
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Anterior uveitis.
Leprosy
Pathogenesis
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Destruction of the nasal bone and cartilage ( Fig. 15.26 ).
Look for
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Madarosis.
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Anterior uveitis.
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Miosis.
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Iris atrophy.
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Keratitis.
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Scleritis.
MOUTH
Ulceration
Behçet disease
Signs
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Recurrent, painful aphthous stomatitis which may involve the buccal mucosa and the tongue ( Fig. 15.27 ).
Look for
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Anterior uveitis with hypopyon.
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Panuveitis.
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Retinal vasculitis.
Reiter syndrome
Signs
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Transient painless ulceration ( Fig. 15.28 ).
Look for
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Conjunctivitis.
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Acute anterior uveitis.
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Keratitis.
Stevens–Johnson syndrome
Signs
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Mucosal bullae and erosions associated with haemorrhagic crusting of the lips ( Fig. 15.29 ).
Look for
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Cicatrising conjunctivitis.
Mucous membrane pemphigoid
Signs
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Mucosal blisters and superficial erosions ( Fig. 15.30 ).
Look for
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Cicatrising conjunctivitis.
Pemphigus vulgaris
Signs
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Mucosal blisters and erosions ( Fig. 15.31 ).
Look for
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Cicatrising conjunctivitis.
Secondary syphilis
Signs
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‘Snail-track’ ulcers ( Fig. 15.32 ).