Dermatology

Question 1

What is acne rosacea?

Answer 1

Episodic or persistent facial flushing, with a notable predisposition towards women aged between 30 and 60 who have fair skin.

Question 2

Epidemiology of rosacea?

Answer 2

Middle aged women with fair complexion are commonly affected

Question 3

Aetiology of rosacea?

Answer 3

Genetic and environmental
Immune response to demodex mite

Question 4

Presentation of rosacea?

Answer 4

Erythemato- telangiectatic; facial flushing, exacerbated by heat, alcohol, sun exposure, warm baths, stress, spicy food, cosmetic products

Papulo- pustular; red bumps (papules) and pus filled pimples (pustules)

Rhinophymatous rosacea; swollen, bulbous nose with enlarged sebaceous glands and prominent hair follicles. Erythematous, thickened, scarred and exhibits a rough waxy surface

Ocular rosacea; red irritated and watery eyelids

Question 5

Differentials for rosacea?

Answer 5

Seborrheic dermatitis
Acne vulgaris
Lupus erythematosus

Question 6

Management of rosacea?

Answer 6

Camouflage cream, sun protection, avoid triggers and using soap substitutes

Reduce flushing; topical brimonidine/ oral propanolol

Telangiectasia; laser therapy

For papulopustular variants: Topical azelaic acid, topical metronidazole, topical ivermectin, oral antibiotics (such as tetracyclines); systemic retinoids may then be used if these measures fail.

For ocular rosacea: Warm compress, massage, and lubricants. Referral to ophthalmology may be necessary.

For rhinophyma: Surgical debulking (dermabrasion, cryotherapy, or cautery) or laser debulking. Oral antibiotics (such as doxycycline) and retinoids may also be useful.

Question 7

What is acne vulgaris?

Answer 7

A a chronic disorder of the skin affecting the pilo-sebaceous unit, in which there is blockage of the follicle leading to comedones and inflammation

Question 8

Epidemiology of acne vulgaris?

Answer 8

Most common dermatological condition affecting individuals of all ethnicities and ages
Highest prevalence in adolescents and young adults affecting upto 80% of the population

Question 9

Risk factors for acne vulgaris?

Answer 9

Hormonal changes (e.g. during puberty, menstrual cycle, polycystic ovary syndrome)
Increased sebum (oil) production
Blockage of hair follicles and sebaceous glands by keratin and sebum
Bacterial colonization (Propionibacterium acnes)
Family history of acne
Certain medications (e.g. corticosteroids, hormonal treatments)

Question 10

Pathophysiology of acne vulgaris?

Answer 10

In normal skin, skin cells in the stratum corneum of the epidermis (corneocytes) desquamate successfully without blocking pilo-sebaceous units.
In acne, the corneocytes are excessively cohesive. They do not detach successfully.
Because of this, the keratin rich corneocytes accumulate and block off hair follicles causing follicular hyperkeratinisation.
Sebum is trapped in the hair follicle since it cannot be drained away. Androgens may also contribute to this causing sebaceous gland hyperplasia and increased sebum production.
This combination of sebum and keratin forms micro-comedones - the earliest feature of acne vulgaris. This is only visible under a microscope.
Gradually, the follicle becomes more distended with keratin and sebum, and the micro-comedone enlarges to become a comedone.
Initially, these are closed comedones, referred to as whiteheads. The contents are not exposed to the skin surface or oxygen, and therefore appear as fleshy/white papules.
Eventually, closed comedones become open comedones. As their contents become exposed to oxygen, they oxidise which causes black discolouration. Open comedones are therefore referred to as blackheads.
Comedones are then colonised with a gram positive bacillus called Propionibacterium (Cutibacterium) acnes. This is a commensal organism (part of the normal skin flora) but leads to an inflammatory response in the right conditions of the comedone, in a predisposed patient.
The comedone is subsequently transformed into an inflammatory papule, which is now associated with erythema. A papule is a solid, raised lesion less than 0.5cm in diameter.
As things progress and more neutrophils accumulate, the inflammatory papule becomes a pustule; this is a lesion less than 0.5cm in diameter that contains pus.
Eventually, the inflammatory papule or pustule becomes so distended that it ruptures into the dermis, triggering a marked and deep seated inflammatory response.
This leads to the formation of nodules/cysts, which are painful and red. A nodule is a solid lesion larger than 0.5cm, and cysts are walled off fluid containing structures.

Question 11

Classification of acne vulgaris?

Answer 11

Non-inflammatory: blackheads and whiteheads.
Inflammatory: inflammatory papules, pustules, and nodules (cysts.)
Mild acne: predominantly non-inflammatory lesions.
Moderate acne: predominantly inflammatory papules and pustules.
Severe acne: nodules (cysts), scarring, acne fulminans, and acne conglobata.

Question 12

Presentation of acne vulgaris?

Answer 12

Open/ closed comedones, inflammatory papules and pustules, nodules and cysts
Face, neck, chest and back are commonly affected
Scarring
Post inflammatory hyperpigmentation/ erythema
Acne fulminans
Acne conglobata

Question 13

Management of acne?

Answer 13

Mild-moderate acne is treated with any 2 of the following in combination:
Topical benzoyl peroxide.
Topical antibiotics (clindamycin)
Topical retinoids (tretinoin/adapalene)

Moderate-severe acne is treated with a 12-week coures of the following first line options:
Topical retinoids (tretinoin/adapelene) + topical benzoyl peroxide.
Topical retinoids + topical antibiotics (clindamycin)
Topical benzoyl peroxide + topical retinoid (tretinoin/adapelene) + oral antibiotic (lymecycline/doxycycline.)
Topical azelaic acid + oral antibiotic (lymecycline/doxycycline)
Second line oral antibiotics: trimethoprim and erythromycin e.g. in pregnant/breast-feeding women where tetracyclines are contra-indicated.
Combined oral contraceptives (COCPs) (if not contraindicated) in combination with topical agents can be considered as an alternative to systemic antibiotics in women

Question 14

When should patients be referred to dermatology for acne?

Answer 14

Acne fulminans
Mild to moderate acne not responding to 2 12 week courses of treatment
moderate to severe acne not responding to 12 week courses of treatment
Psychological distress
Acne with scarring
Persistent pigmentary changes

Question 15

Complications of acne?

Answer 15

Post inflammatory erythema
Post inflammatory hyperpigmentation
Scarring

Question 16

What is actinic keratosis?

Answer 16

Pre-malignant skin condition that preceeds cutaneous SCC

Question 17

Epidemiology of actinic keratosis?

Answer 17

Higher in those with fair complexion
Those exposed to higher levels of solar radiation

Question 18

Pathophysiology of actinic keratoses?

Answer 18

Sun exposure leading to DNA damage within keratinocytes

Question 19

Presentation of actinic keratoses?

Answer 19

Thickened papules or plaques , surrounding erythematous skin and keratotic, rough, warty surface

Question 20

Risk factors for actinic keratoses?

Answer 20

Type I or II skin (fair, burns easily)
History of sunburn or extensive sun exposure
Outdoor occupation or hobbies
Immunosuppression

Question 21

Differentials for actinic keratoses?

Answer 21

Seborrheic keratosis
Cutaneous horns
Psoriasis
Basal cell carcinoma

Question 22

Investigations to diagnose actinic keratoses?

Answer 22

Dermatoscopy: useful for visualizing the surface and vascular structures of the skin lesion.
Skin biopsy: performed if there is diagnostic uncertainty or if malignancy is suspected.

Question 23

Management of actinic keratosis?

Answer 23

Cryotherapy, curettage or surgical excision
5-FU creams, NSAIDs, Imiquimod

Question 24

What is alopecia?

Answer 24

Loss of hair from areas where hair normally grows.

Question 25

Classification of alopecia?

Answer 25

Scarring; destruction of underlying hair follicle Discoid lupus erythematosus Localised scleroderma Burns/ injury Infection Lichen planopiliaris Folliculitis decalvans Non- scarring; hair follicle remains intact Autoimmune SLE Hypothyroidism Androgenic alopecia Telogen effluvium Traction alopecia

Question 26

Management of alopecia?

Answer 26

Camouflage; wig, hairpiece, mesh False lashes, tattoo Topical steroid Topical immunotherapy Minoxidil; dilates local blood vessels to scalp Dithranol; stains hair darker colour Systemic steroids JAK inhibitors; baricitinib

Question 27

Complications of alopecia?

Answer 27

Psycho-social; poor quality of life, depression and anxiety Other illness may co-exist

Question 28

What is eczema?

Answer 28

Chronic disorder of the skin characterised by dermal inflammation with resultant spongiotic change in epidermis histologically with chronic features including epidermal acanthosis, hyperkeratosis, parakeratosis

Question 30

Classification of eczema?

Answer 30

Atopic eczema Allergic contact dermatitis (see separate section on contact dermatitis) Irritant contact dermatitis (see separate section on contact dermatitis) Seborrheic dermatitis Venous eczema (stasis dermatitis) Asteatotic dermatitis (eczema craquele) Erythrodermic eczema Pompholyx eczema

Question 31

Pathophysiology of eczema?

Answer 31

Lymphocytic infiltration of the dermis Keratinocytes in the epidermis start detaching from one another resulting in widening of intracellular space

Question 32

What is seen on histology in eczema?

Answer 32

Epidermal acanthosis: thickening of the epidermis due to hyperplasia. Hyperkeratosis: thickening specifically of the stratum corneum. Parakeratosis: retained nuclei in the stratum corneum indicating problems with the usual differentiation process.

Question 33

Presentation of eczema?

Answer 33

Childhood predominance Atopic phenotype; asthma, hayfever, raised eosinophils Flexor surface distribution; ACF, posterior knee Itchy, erythematous skin Erythrodermic eczema: This is a dermatological emergency and may complicate atopic eczema. It is syndrome characterised by widespread redness (>90%) There is often skin exfoliation too, which leads to exfoliative dermatitis. Seborrhoeic dermatitis: This common condition is thought to happen due to Malassezia Furfur, a commensal organism on the skin. A predisposed individual due to genetic and environmental factors may develop an inflammatory response to the organism. The skin is flakey with a fine scale, oily, and erythematous. There is usually minimal pain or stinging or itch. The scale may coalesce into thicker plaques. It tends to affect the face (especially hairline, nasolabial fold, and brow area) in adults. Stasis dermatitis: Also known as venous eczema. This is eczema associated with chronic venous insufficiency (venous hypertension), usually affecting the gaiter area. There may be associated skin changes therefore, including: venous ulcers, lipodermatosclerosis, and hemasiderosis. Pompholyx eczema: This is a subtype of eczema associated with intensely itchy vesicles that erupt in the hands. It is also referred to as dishydrotic eczema. Eczema craquele: Eczema associated with dry skin.

Question 34

Risk factors for seborrhoeic dermatitis?

Answer 34

Family history Oily skin Immunosuppression (such as HIV) Neurological and psychiatric diseases (such as Parkinson's Disease or Depression) Stress

Question 35

Investigations to diagnose eczema?

Answer 35

Clinical diagnosis Patch test Swab Skin biopsy

Question 36

Severity classification of eczema?

Answer 36

Mild - areas of dry skin, and infrequent itching (with or without small areas of redness) Moderate - areas of dry skin, frequent itching, and erythema (with or without excoriation and localized skin thickening) Severe - widespread areas of dry skin, incessant itching, and erythema (with/without excoriation, extensive skin thickening, bleeding, oozing, cracking, and alteration of pigmentation) Infected - if eczema is weeping, crusted, or there are pustules, with fever or malaise

Question 37

Management of eczema?

Answer 37

Avoid triggers; soaps, perfumes, biological detergents or synthetic fabrics, allergens Topical treatment for eczema: Mild eczema - liberal emollient usage + mild topical corticosteroid (such as hydrocortisone 1%) for areas of red skin. Moderate eczema - liberal emollient usage + moderate topical corticosteroid (such as clobetasone butyrate 0.5% - Eumovate) for 5 days. Hydrocortisone 1% should be used for the face and flexures. Consider prescribing maintenance topical corticosteroids to control areas of skin prone to frequent flares. Severe eczema - liberal emollient usage + potent topical corticosteroid (for example betamethasone valerate 0.1% - Betnovate) to be used on inflamed areas. For the face and flexures, use a moderate potency corticosteroid (such as Eumovate). Light therapy Systemic steroids Systemic retinoids DMARDs; methotrexate, ciclospoin, azathioprine Biologicals; Dupilumab: IL-4Rα inhibitor Baricitinib: JAK inhibitor

Question 38

When to refer to dermatology for eczema?

Answer 38

Severe and not responding to topical treatment after 1 week Uncertainty surrounding diagnosis Control over diagnosis is not satisfactory treatment resistant facial eczema

Question 39

Complications of eczema?

Answer 39

Poor sleep Poor mood Skin breakdown Itchiness Psycho-social insecurities Eczema herpeticum

Question 41

What is eczema herpeticum?

Answer 41

Disseminated herpes simplex virus in eczema resulting in vesicles and punched out erosions. There may be multiorgan involvement Diagnosis can be confirmed with a swab & Tzanck test. Admission to hospital and IV aciclovir

Question 42

What is basal cell carcinoma?

Answer 42

Skin cancer originating from basal keratinocytes within epidermis, commonly secondary to DNA damage from UV radiation There is invasion of the basement membrane

Question 43

Epidemiology of BCC?

Answer 43

Most common skin cancer Incidence is rising due to increased exposure to UV radiation Incidence increases with age, common over age of 40 More common in areas with intense UV radiation

Question 44

Risk factors for BCC?

Answer 44

Family history Genetic syndromes; naevoid basal cell carcinoma syndrome; autosomal dominant loss of function of the PTCH tumour suppressor gene Pale skin Light hair High levels of sun/ UV exposure Immunosuppression Chronic inflammation Old age Male sex

Question 45

Pathophysiology of BCC?

Answer 45

Genetic mutations leads to uncontrolled proliferation of basal cells Activation of the hedgehog signaling pathway Local tissue invasion and destruction as BCC grows Typically does not metastasize to other organs

Question 46

Classification of BCC?

Answer 46

Nodular - the most common subtype, characterized by a raised, shiny, pink or translucent nodule with central ulceration or crusting Morphoeic (sclerosing) - presents as a firm, scar-like plaque with indistinct borders, making it challenging to diagnose and treat Keratotic - presents with horn cysts within well-circumscribed basal nodules Pigmented - rare, and typically presents with brown or black pigmentation within the lesion Superficial - presents as scaly, red patches or plaques, often mistaken for eczema or psoriasis

Question 47

Signs and symptoms of BCC?

Answer 47

Very slow growing Local destruction can occur but metastasis is rare Usually asymptomatic (pain/bleeding rare) Flesh coloured nodules with central depression, pearly surface, rolled edge, and telangiectasia They can can necrose and ulcerate in the centre ('rodent ulcer) In sun-exposed areas. There may be background sun-damage such as actinic keratoses

Question 48

Differentials for BCC?

Answer 48

Squamous cell carcinoma Melanoma Seborrheic keratosis Actinic keratosis Dermatofibroma

Question 49

Investigations to diagnose BCC?

Answer 49

Excision biopsy with 4mm margin, 6mm margin for high risk lesions defined as; 2cm diameter Location on the ear, lip, face, hands, feet, or genitals Immunosuppressed Recurrent disease Sentinel lymph node biopsy

Question 50

Management of BCC?

Answer 50

Almost always treated surgically with excision using a 4mm margin (6mm for high risk lesions) Mohs micrographic surgery Radiotherapy Curettage and cautery, topical 5-FU, topical imiquimod, cryotherapy Immunotherapies

Question 51

Complications of BCC?

Answer 51

Local tissue invasion Recurrence of tumour Metastasis is very rare Psychological distress due to disfigurement

Question 52

What is cellulitis?

Answer 52

Bacterial soft tissue infection of the dermis and subcutaneous tissue

Question 53

Pathophysiology of cellulitis?

Answer 53

Bacterial entry through breaks in skin barrier leading to infection and inflammation Bacteria multiply in subcutaneous tissue triggering immune reaction

Question 54

Risk factors for cellulitis?

Answer 54

Breaks in the skin, such as cuts, abrasions, insect bites, or surgical wounds Chronic conditions that compromise skin integrity - venous insufficiency or lymphedema, pressure sores, ulcers, recent trauma Obesity Diabetes Immunosuppression Intravenous drug use Recent history of cellulitis

Question 55

Clinical features of cellulitis??

Answer 55

Erythema Calor (heat) Swelling Pain Poorly demarcated margins Systemic upset: fever, malaise Lymphadenopathy Rarely blisters and pustules (severe disease) Often evidence of breach of skin barrier e.g. trauma, ulcer etc.

Question 56

Aetiology of cellulitis?

Answer 56

Streptococcus pyogenes Group A beta haemolytic streptococci Staphylococcus aureus

Question 57

Differentials for cellulitis?

Answer 57

DVT Erysipelas Allergic reactions/ contact dermatitis Necrotising fasciitis

Question 58

Eron classification to grade severity of cellulitis?

Answer 58

Class I — there are no signs of systemic toxicity and the person has no uncontrolled comorbidities. Class II — the person is either systemically unwell or systemically well but with a comorbidity (for example peripheral arterial disease, chronic venous insufficiency, or morbid obesity) which may complicate or delay resolution of infection. Class III — the person has significant systemic upset, such as acute confusion, tachycardia, tachypnoea, hypotension, or unstable comorbidities that may interfere with a response to treatment, or a limb-threatening infection due to vascular compromize. Class IV — the person has sepsis or a severe life-threatening infection, such as necrotizing fasciitis.

Question 59

Investigations to diagnose cellulitis?

Answer 59

Blood tests - FBC (high WCC), CRP, U+E (may be AKI if severe infection), blood cultures Wound swab if there is an open wound, penetrating injury, drainage, or an obvious portal for microbial entry, exposure to water borne-organisms, an infection acquired outside the UK or in severe cellulitis Ultrasound scan - for distinguishing nonpurulent cellulitis from cellulitis with underlying abscess and for identifying drainable fluid collection

Question 60

Indications for admission to hospital with cellulitis?

Answer 60

Class III - Class IV cellulitis Rapidly deteriorating cellulitis Under 1 year of age or frail Immunosuppression Significant lymphoedema Facial cellulitis (unless very mild) Suspected orbital or periorbital cellulitis (admit to ophthalmology) Class II cellulitis (systemically unwell or systemically well but with a comorbidity)

Question 61

Treatment for cellulitis?

Answer 61

Mark the area of erythema to aid in detection of rapidly spreading cellulitis, and to monitor treatment response Elevate if possible Review if wound debridement is required Class I - high-dose oral flucloxacillin (clarithromycin/doxycyline if penicillin allergic and erythomycin if pregnant) Class II - admit systemically unwell patients or those systemically well but with a comorbidity. May be able to ambulate with IV antibiotics. Class III-IV - admit for IV antibiotics

Question 62

Complications of cellulitis?

Answer 62

Abscess formation Lymphangitis (infection of lymphatic vessels) Systemic spread of infection (sepsis) Recurrence of cellulitis Chronic or recurrent lymphedema Scarring and changes in skin texture

Question 63

What is an arterial ulcer?

Answer 63

Ischaemic ulcer that develops due to insufficient blood supply Associated with peripheral arterial disease

Question 64

What is a venous ulcer?

Answer 64

Stasis ulcer due to insufficient blood return from the lower limbs Associated with chronic venous insufficiency

Question 65

Epidemiology of venous and arterial ulcers?

Answer 65

Arterial ulcers and venous ulcers are more prevalent in older populations Arterial ulcers are more common in men Venous ulcers are more common in middle age women

Question 66

Aetiology of vascular ulcers?

Answer 66

Peripheral arterial disease; atherosclerosis Venous insufficiency; valve malfunction

Question 67

Presentation of arterial ulcers?

Answer 67

Occur distally (e.g. at the heel or toe tips) Are small and deep Have a 'punched out' margin Do not bleed or ooze Associated with other features of peripheral arterial disease (weak distal pulses, skin/hair atrophy)

Question 68

Presentation of venous ulcer?

Answer 68

Occur in the gaiter area (more often on the medial side) Are large and shallow Have sloping edges Bleed or ooze Associated with features of chronic venous insufficiency (haemosiderin deposition, lipodermatosclerosis, atrophie blanche)

Question 69

Differentials for venous ulcers?

Answer 69

Diabetic ulcers Vasculitis ulcers Malignant ulcers

Question 70

Investigations to diagnose vascular ulcer?

Answer 70

Physical examination Doppler USS Ankle Brachial pressure index Angiography

Question 71

Interpretation of ABPI?

Answer 71

More than 1.4: suggests abnormal thickening of vascular walls (typically in diabetes due to calcification) 1 - 1.4: Normal 0.91 - 0.99 — peripheral arterial disease may be present. Further investigation is necessary if there is significant clinical suspicion. < 0.9: suggests peripheral arterial disease present <0.5: Severe disease, Patients will require an urgent referral to a vascular surgery centre.

Question 72

Management of Arterial and venous ulcers?

Answer 72

For arterial ulcers, this could involve improving arterial circulation through a combination of lifestyle changes, medications, and, in severe cases, surgical interventions. Medications can include antiplatelet drugs (such as aspirin or clopidogrel), statins to reduce cholesterol levels, and possibly antihypertensives to control blood pressure. In cases where these measures are not sufficient, angioplasty or bypass grafting may be considered. NB: compression stockings are contraindicated here as they will worsen the ischaemia. Venous ulcers are managed through compression therapy to reduce venous hypertension, alongside wound care and possibly surgical intervention for severe or refractory cases.

Question 73

What is neurofibromatosis?

Answer 73

NF1 is due to a loss-of-function mutation in the neurofibromin gene on Chromosome 17. NF2 arises from a loss-of-function mutation in the Schwannomin (Merlin) tumour suppressor gene on Chromosome 22

Question 74

Features of NF1?

Answer 74

Cutaneous features Cafe-au-lait spots: Oval-shaped, coffee-coloured patches that continue to grow throughout life. Presence of 6 macules >5mm (or >15mm if post-pubertal) is a feature of NF1. Axillary or inguinal freckling Neurofibromas: Small nodular tumours in the skin. Non-cutaneous features Lisch nodules: Hamartomas on the iris appearing as brown patches/mounds, typically visible by age 6. Optic glioma Scoliosis and other bone malformations Learning difficulties Hypertension Gastrointestinal issues: Bleeding or obstruction due to tumours in the bowel. Epilepsy: Due to tumours in the brain.

Question 75

Features of NF2?

Answer 75

Bilateral vestibular schwannomas (acoustic neuromas), causing sensorineural hearing loss, tinnitus, and vertigo. Meningiomas Spinal ependymomas Posterior lens opacities Cerebral calcification Astrocytomas Glial hamartomas

Question 76

Differentials for NF?

Answer 76

Legius syndrome Segmental NF McCune- Albright syndrome Genetic syndrome; bloom syndrome, fanconi anaemia

Question 77

What is porphyria cutanea tarda?

Answer 77

group of disorders affecting the enzymes involved in the porphyrin pathway, which synthesises haem. In PCT, there is a deficiency in the enzyme uroporphyrinogen decarboxylase, leading to a buildup of precursors or intermediate molecules

Question 78

Epidemiology of porphyria cutanea tarda?

Answer 78

PCT can be either genetic (approximately one-third of cases) or acquired, typically due to exposure to certain triggers.

Question 79

Aetiology of porphyria cutanea tarda?

Answer 79

Alcohol consumption Estrogen-containing medications such as hormone replacement therapy or oral contraceptive pills Infections such as Hepatitis B and C, HIV Conditions causing iron overload Renal dialysis due to inadequate excretion

Question 80

Presentation of porphyria cutanea tarda?

Answer 80

Photosensitivity Blister/bullae formation that easily rupture to form erosions Healing blisters may leave scars and milia (cysts) Skin may become thick and resemble scleroderma Hyperpigmentation and hypertrichosis (especially on the top of the cheek)

Question 81

Differentials of porphyria cutanea tarda?

Answer 81

Dermatitis herpetiformis Bullous lupus erythematosus Epidermolysis bullosa

Question 82

Management of porphyria cutanea tarda?

Answer 82

Conservative measures: avoidance of sunlight and known drug triggers Phlebotomy: to reduce iron levels Medication: Chloroquine may help by increasing excretion

Question 83

Investigations to diagnose porphyria cutanea tarda?

Answer 83

Skin biopsy Urinoporphyrinogen III/ uroporphyrin Urine may appear tea coloured Assessments for underlying causes are crucial, such as kidney function, iron studies, Hepatitis B and C. Antinuclear antibody (ANA) tests are often positive in PCT.

Question 84

Cutaneous presentation of streptococcus pyogenes infection?

Answer 84

Acute or Chronic Rheumatic Fever: Migrating polyarthritis, mitral valve regurgitation or stenosis, Sydenham chorea, erythema marginatum Post-Streptococcal Glomerulonephritis: Haematuria, hypertension, and proteinuria, following 1-3 weeks after a streptococcal throat infection. Erythema Nodosum: Painful nodules, primarily on the shins, caused by immune complex deposition. Post-streptococcal Reactive Arthritis: Arthritis in one or more joints in patients who do not meet the criteria for Rheumatic Fever. Toxic Shock Syndrome: Supertoxin mediated, causing a widespread erythematous rash and fever, with potential for rapid progression to multi-organ failure and coma if untreated. Scarlet Fever: Fever, desquamating rash, 'strawberry' tongue often accompanied by abdominal pain and vomiting, caused by erythrogenic toxin.

Question 85

Presentation of tuberous sclerosis?

Answer 85

Angiofibromas: Dome-shaped, firm papules in a butterfly distribution across the face. Ashleaf macules: Oval patches of hypopigmented skin that fluoresce under a Wood's light. Shagreen patch: Leathery, cobbled plaque, often on the sacrum, that is dimpled like orange peel. Ungal fibromas: Smooth, fleshy tumours that grow from the nail folds either around or under the nail. Café Au Lait patches: Hyperpigmented macules on the body. Retinal hamartomas: These can lead to visual disturbances. Cardiac rhabdomyomas: These are benign heart tumours and may cause cardiovascular complications. Lung and renal involvement: Can lead to further systemic complications. Epilepsy: The most common neurologic manifestation, often with onset in infancy or childhood. Learning difficulties: Cognitive impairments are common, with varying severity. Behavioural abnormalities: This may include autistic features, ADHD-like symptoms, and other behavioural problems.

Question 86

Differentials for tuberous sclerosis?

Answer 86

Neurofibromatosis Sturge weber syndrome Von Hippel- Lindau disease

Question 87

Aetiology of tuberous sclerosis?

Answer 87

TSC is caused by loss-of-function mutations in the Tuberous Sclerosis Complex 1 (TSC1) and Tuberous Sclerosis Complex 2 (TSC2) tumour suppressor genes. These mutations lead to hamartoma formation across various body systems.

Question 88

Management of tuberous sclerosis?

Answer 88

Seizure control: Antiepileptic drugs are used, and in refractory cases, ketogenic diet, vagus nerve stimulation, or epilepsy surgery may be considered. Learning support: Including special education services and behavioural therapies. Surveillance for associated complications: Regular ophthalmologic, cardiac, pulmonary, and renal assessments are recommended. Dermatologic treatments: Options include topical treatments, laser therapy, and surgical removal for severe skin lesions.

Question 89

What is scleroderma?

Answer 89

autoimmune disorder characterized by abnormal fibrosis of the skin and internal organs

Question 90

Epidemiology of systemic sclerosis?

Answer 90

Rare, 10-30 cases per million Affects women more than men, 3:1 ratio Peak age between 30 and 60 years Genetic predisposition and environmental triggers

Question 91

Pathophysiology of systemic sclerosis?

Answer 91

Dysregulation of the immune system, leading to autoimmune responses Abnormal activation of fibroblasts, resulting in excessive collagen production and fibrosis Vascular abnormalities, including endothelial cell damage and microvascular dysfunction Immune complex deposition and inflammation in affected tissues

Question 92

Features of limited systemic sclerosis?

Answer 92

Disease is limited to hands/ feet/ face Calcinosis Raynauds Oesophageal dysmotility Sclerodactyly Telangiectasia

Question 93

Features of diffuse systemic sclerosis?

Answer 93

Widespread skin thickening affecting trunk, upper arms and legs Early involvement of internal organs Raynaud's phenomenon Dysphagia Gastroesophageal reflux disease (GORD) Digital ulcers Joint pain and inflammation Pulmonary involvement, including interstitial lung disease Cardiac manifestations

Question 94

Differentials of systemic sclerosis?

Answer 94

Dermatomyositis Eosinophilic fasciitis Morphea (localized scleroderma) Sarcoidosis Systemic lupus erythematosus (SLE)

Question 95

Investigations to diagnose systemic sclerosis?

Answer 95

Antinuclear Antibody (ANA) Test: commonly positive in SSc Anti-centromere antibodies are positive in 80% in limited SSc Anti-topoisomerase-1 (Scl-70) and anti-RNA polymerase antibodies may be present in diffuse SSc

Question 96

Management of systemic sclerosis?

Answer 96

Skin care: Emollients and moisturizers to manage dryness and minimize skin complications Raynaud's Phenomenon: Calcium channel blockers and lifestyle modifications Immunosuppressants: In cases of severe skin or systemic involvement Physiotherapy: to maintain joint mobility. Gastrointestinal Management: Medications and dietary adjustments for GORD and dysphagia

Question 97

Complications of systemic sclerosis?

Answer 97

Digital ulcers leading to gangrene Restrictive lung disease Pulmonary hypertension Renal crisis Cardiac involvement Joint contractures and disability