Skin Examination for Systemic Disease — Clinical Case

DCE Short Case

Patient brief (provided to trainee)

Patient: Ms Priya Sharma, 28 years old, graphic designer. [1]

Presenting complaint: Three months of a facial rash that worsens with sun exposure, fatigue, and intermittent joint pains in the hands and the wrists. She has noticed painful mouth ulcers. Her general practitioner referred her for an assessment. [1]

Past history: No significant past medical history. No regular medications, including no oral contraceptive pill. No known allergies. No family history of autoimmune disease, though her maternal aunt has rheumatoid arthritis. [1]

Examination findings (trainee elicits): [1]

General inspection: The patient is comfortable at rest, of a normal body habitus. She has a visible erythematous rash over both cheeks and the bridge of the nose, with sharp sparing of the nasolabial folds. The distribution is photosensitive (the rash extends to the V of the neck and the dorsa of the forearms). No visible blistering, no purpura, no scale. [1]

Hands: The nails are normal. No clubbing (the Schamroth window sign is negative). No koilonychia, no Beau lines. No splinter haemorrhages. The nail-fold capillaries are normal — fine, evenly spaced hairpin loops with no dilation, no tortuosity, and no dropout. There are no Gottron papules over the MCP or IP joints. The palms are normal with no palmar erythema. No sclerodactyly, no calcinosis, no telangiectasia. [1]

Face: The malar rash is flat, erythematous, and confluent over both cheeks and the bridge of the nose, with sharp sparing of the nasolabial folds. There are three small, painless ulcers on the hard palate. No heliotrope rash (the upper eyelids are a normal skin colour). No periorbital oedema. No xanthelasma, no arcus senilis. Two spider naevi on the anterior neck (a central arteriole with radiating vessels, blanching on pressure). No moon face, no plethora. No oral candidiasis. [1]

Trunk: No acanthosis nigricans in the axillae, the back of the neck, or the inguinal folds. No striae. No gynaecomastia. No cafe-au-lait macules, no shagreen patches, no ash-leaf macules. No spider naevi on the trunk. No caput medusae. [1]

Legs: No erythema nodosum (no tender, erythematous subcutaneous nodules on the shins). No ulcers (no pyoderma gangrenosum). No necrobiosis lipoidica (no yellow-brown atrophic plaques). No pretibial myxoedema. No purpura (palpable or non-palpable). No livedo reticularis or racemosa. No digital infarcts. [1]

Mucosae and scalp: The painless oral ulcers on the hard palate. No conjunctival injection. The scalp shows no scarring alopecia and no discoid lesions. [1]

Trainee presentation (model answer)

"Ms Sharma is a 28-year-old graphic designer who presents with three months of a photosensitive facial rash, fatigue, joint pains in the hands and the wrists, and painful mouth ulcers. [1]

I introduced myself, explained the examination, and obtained consent. I examined the patient in good natural light. [1]

On general inspection, this young woman has an erythematous rash over both cheeks and the bridge of the nose, with sharp sparing of the nasolabial folds. The distribution is photosensitive, extending to the V of the neck and the dorsa of the forearms. [1]

In the hands, the nails are normal. There is no clubbing, no koilonychia, no Beau lines, and no splinter haemorrhages. The nail-fold capillaries are normal — fine, evenly spaced hairpin loops with no dilation or dropout. There are no Gottron papules. The palms are normal with no palmar erythema. No sclerodactyly, no calcinosis, no telangiectasia. [1]

On the face, the malar rash is flat, erythematous, and confluent over both cheeks and the bridge of the nose, with sharp sparing of the nasolabial folds. There are three painless oral ulcers on the hard palate. No heliotrope rash, no periorbital oedema, no xanthelasma. Two spider naevi on the anterior neck. [1]

On the trunk, there is no acanthosis nigricans, no striae, no gynaecomastia. No cafe-au-lait macules, no shagreen patches. No spider naevi on the trunk, no caput medusae. [1]

On the legs, there is no erythema nodosum, no pyoderma gangrenosum, no necrobiosis lipoidica, no pretibial myxoedema, no purpura, and no livedo. [1]

In summary, this patient has a photosensitive malar rash sparing the nasolabial folds, with painless oral ulcers on the hard palate, photosensitivity, and a history of arthralgia. The findings are consistent with systemic lupus erythematosus. [1]

My plan is to take a full history including the sun exposure, the joint symptoms, the drug history, and a family history of autoimmune disease. I would check the full blood count, the renal and liver function, the urinalysis, the antinuclear antibodies, the extractable nuclear antigens including the anti-dsDNA and the anti-Smith, and the complement levels (C3 and C4) [1]."

Examiner probing questions and model answers

Q1: "How do you use the 2019 EULAR/ACR classification criteria for SLE in this patient?" [1]

"The 2019 EULAR/ACR classification criteria require a positive antinuclear antibody (ANA, titre at least 1:80) as the mandatory entry criterion. If the ANA is positive, the criteria are additive and weighted across seven clinical and three immunological domains, with a total score of 10 or more classifying the patient as SLE, provided that each criterion is not better explained by another disease. In this patient, the clinical findings that contribute to the score are the acute cutaneous lupus (the malar rash, weighted at 6 points in the acute cutaneous domain) and the oral ulcers (observed by the clinician, 2 points in the mucosal domain). With the arthralgia, I would examine for the joint synovitis or the tenderness, which would contribute to the musculoskeletal domain (6 points if there is the joint involvement). The photosensitivity is part of the cutaneous domain. The laboratory confirmation is the ANA as the entry criterion, the anti-dsDNA (the immunological domain), and the anti-Smith (which is highly specific for SLE) [1]."

Q2: "How do you distinguish the malar rash of SLE from rosacea and from the dermatomyositis rash?" [1]

"The three facial rashes to distinguish are the malar rash of SLE, the rosacea, and the dermatomyositis rash. The SLE malar rash is erythematous, flat or slightly raised, spares the nasolabial folds, and is photosensitive. Rosacea involves the nasolabial folds (it does not spare them), has papules and pustules, and is associated with flushing, telangiectasia, and rhinophyma. The dermatomyositis rash is more violaceous (ilac-coloured), is accompanied by the heliotrope rash on the upper eyelids and the Gottron papules on the knuckles, and may involve the scalp and the shawl area. In this patient, the nasolabial fold sparing, the absence of papules and pustules, the absence of the heliotrope rash and the Gottron papules, and the presence of the painless oral ulcers and the photosensitivity point to SLE. The laboratory confirmation is the ANA, the anti-dsDNA, and the anti-Smith for SLE, and the creatine kinase and the myositis-specific antibodies for dermatomyositis [1][3]."

Q3: "This patient has arthralgia. What is the pattern of the joint involvement in SLE, and how does it differ from rheumatoid arthritis?" [1]

"The joint involvement in SLE is typically a non-erosive, symmetric polyarthritis affecting the small joints of the hands, the wrists, and the knees. It is usually migratory and fleeting, unlike the persistent synovitis of rheumatoid arthritis. The SLE arthropathy can produce the reducible deformities of the hands (the Jaccoud arthropathy), with the ulnar deviation, the swan-neck deformity, and the hyperextension at the MCP joints, but these deformities are reducible (they are caused by the tendon and ligament laxity, not by the bone destruction) and the X-rays show no erosions. The rheumatoid arthritis, by contrast, produces the fixed, irreducible deformities with the erosions on the X-ray. The distinction matters because the management differs — the SLE arthropathy responds to the hydroxychloroquine and the low-dose corticosteroids, while the rheumatoid arthritis requires the disease-modifying antirheumatic drugs such as methotrexate and the biologic agents." [1]

Q4: "Why do you need to check the urinalysis in this patient, and what finding would concern you most?" [1]

"The urinalysis is critical because lupus nephritis is one of the most serious complications of SLE and a major determinant of the prognosis. The finding that would concern me most is the proteinuria with the haematuria and the red cell casts, which indicates the proliferative lupus nephritis (class III or class IV on the renal biopsy classification). The red cell casts indicate the glomerular origin of the bleeding and the active glomerulonephritis. The lupus nephritis can present with the nephritic syndrome (the haematuria, the proteinuria, the hypertension, and the renal impairment) or the nephrotic syndrome (the heavy proteinuria, the oedema, and the hypoalbuminaemia). The class IV lupus nephritis is the most common and the most severe, and it requires the urgent renal biopsy, the aggressive immunosuppression (the mycophenolate mofetil or the intravenous cyclophosphamide with the high-dose corticosteroids), and the long-term renal follow-up [1]."

Q5: "What is the significance of the spider naevi in this patient?" [1]

"The two spider naevi on the anterior neck are within the normal range for a young woman — the small number of spider naevi can be a benign finding in the general population and in pregnancy (from the oestrogen). The finding of more than three to five spider naevi, especially in a man or a non-pregnant woman, would suggest the chronic liver disease (cirrhosis) with the oestrogen excess. In this patient, the two spider naevi do not by themselves make the diagnosis of cirrhosis, but I would check the liver function as part of the SLE workup, because SLE can involve the liver, and because the autoimmune liver diseases (the primary biliary cholangitis, the autoimmune hepatitis) can coexist with SLE in the autoimmune polyglandular syndromes. The spider naevi should be interpreted in the clinical context, and the key discriminator is the number, the distribution (above the umbilicus, in the superior vena cava territory), and the associated features (the palmar erythema, the gynaecomastia, the caput medusae, the jaundice) that would make the full stigmata of the chronic liver disease." [1]

Q6: "What is the long-term management of this patient's SLE, and what lifestyle advice would you give?" [1]

"The long-term management has three arms: the pharmacological, the monitoring, and the lifestyle. The pharmacological first-line agent is the hydroxychloroquine (5 mg per kilogram per day, with the annual screening for the hydroxychloroquine retinopathy), which reduces the flares, the organ damage, and the thrombosis risk, and which improves the cutaneous and the musculoskeletal manifestations. For the acute flares, I would use the short course of the oral prednisolone, tapering to the lowest effective dose. For the organ-threatening disease (the lupus nephritis, the central nervous system lupus, the severe cytopenias), I would add the immunosuppressants (the mycophenolate mofetil, the azathioprine, or the cyclophosphamide for the induction). The monitoring includes the regular full blood count, the renal function, the urinalysis, the complement levels, and the anti-dsDNA titre (which tends to rise before a flare). The lifestyle advice is critical: strict sun protection (the broad-spectrum sunscreen, the protective clothing, the avoidance of the peak sun hours) because the ultraviolet light triggers the flares, the smoking cessation (the smoking reduces the hydroxychloroquine efficacy and increases the cardiovascular risk), and the cardiovascular risk factor modification (the SLE patients have a markedly increased cardiovascular risk). I would also assess the antiphospholipid antibodies (the lupus anticoagulant, the anticardiolipin, the beta-2 glycoprotein 1), because the antiphospholipid syndrome coexists with SLE in approximately 20 to 30 per cent of the patients and requires the thromboprophylaxis [1]."