What are these facial plaques in this 4-year-old child?
A 4-year-old-Latino female presented with red, indurated plaques that had been on her cheeks and dorsal nose for 3 months. The mother reported worsening with sun exposure and slow progression despite topical antifungal cream twice a day. The child was otherwise healthy. She was current on her routine vaccinations and her review of systems was negative aside from easily bruising and bleeding (per mother). The child was not taking any oral medication. There was no history of travel outside the country, and other family member were healthy and without rash.
On physical examination, the patient had erythematous, raised plaques without discernible scale of the malar cheeks and nasal dorsum (Figures 1-3). The remainder of the skin and mucosal examination was unremarkable. KOH (potassium hydroxide) examination of skin scrapings from the lesion was negative for fungal elements. One 4-mm punch biopsy from the right cheek was obtained and submitted for H&E. Basic laboratory (CBC, CMP, LFTs, PT/PTT/INR) along with serum ANA titer, anti-Ro/SSA antibodies, total hemolytic complement (CH50), complement components (C3 and C4) and C-reactive protein (CRP) were ordered.
Figure 1. Raised plaques without discernible scale of the malar cheeks and nasal dorsum.
Figure 2. No discernible scale and follicular plugging
Figure 3. Central clearing similar to the annular variant of sub-acute cutaneous lupus (SCLE).
WHAT IS YOUR DIAGNOSIS?
Diagnosis: Lupus Erythematosus tumidus in a Prepubescent Child
Lupus erythematosus tumidus (LET) is a variant of chronic cutaneous lupus characterized by indurated, erythematous plaques without discernible scale and follicular plugging. Most commonly, LET affects postpubertal patients between the ages of 20 and 40 with men and women equally affected.
Lesions are most commonly observed in areas of sun exposure (eg, face, upper back, V area of the neck, extensor aspects of the arms and shoulders); while sun-spared areas (eg, inner aspect of the arms and axillae), knuckles and lower extremities are not affected. Once a lesion has developed, it can disappear spontaneously within days to weeks. However, it is often reproducible with sun exposure and provocative UV-A (315-400 nm) and UV-B (280-315 nm) phototesting.1
Morphology of the lesions is similar to Jessner’s lymphocytic infiltrate (some believe these 2 entities to be the same or closely related)2 and may develop central clearing similar to the annular variant of subacute cutaneous lupus (SCLE). Lesions tend to heal without scarring or atrophy because the dermal-epidermal and follicular basal layers and the subcutaneous fat are not inflamed, respectively.
Histological examination shows lymphohistiocytic infiltrate of the dermis with increased mucin.3 Patients presenting with LET rarely have other cutaneous findings associated with systemic lupus erythematosus (SLE), such as hypopigmentation, mucous membrane ulcers, diffuse alopecia, livedo reticularis or vasculitis. Patients presenting with LET do not have evidence of systemic involvement1 characterized by 4 or more of the American Rheumatism Association criteria for the diagnosis of systemic LE (SLE).4
Along with LET, the diffential diagnosis included discoid lupus erythematosus, SCLE, Jessner’s lymphocytic infiltrate, polymorphous light eruption, pseudolymphoma, tinea faciei, allergic contact dermatitis and malar eruption of Bloom syndrome.
Patients with LET should be screened for underlying SLE with serum ANA titer and anti-Ro/SSA along with basic laboratory testing if clinically indicated. UV exposure should be avoided with protective clothing (broad-brimmed hat and high-collared shirt), avoidance of prolonged outdoor activity between 11 AM-3 PM and use of broad-spectrum sunscreen. Approximately, half of patients will experience clinical resolution with topical or intralesional corticosteroid therapy with strength determined by location and UV avoidance.1 Patients without clinical resolution with topical therapy alone, often improve with the additional of oral antimalarial therapy. Hydroxychloroquine in a daily dose of 6.0-6.5 mg/kg has been successfully used.3 Prior to starting oral antimalarial therapy, patients should undergo basic laboratory testing (CBC, CMP and LFTs) along with baseline complete ophthalmologic examination. While taking oral antimalarial therapy, patients should continue to undergo laboratory testing every 4-6 months to monitor for rare agranulocytosis and hemolytic anemia. Additionally, patient should be monitored for changes in vision (blurring, light halos and central scotomas) and cutaneous hyperpigmentation (blue-gray darkening of the shins, mucosa and sun-exposed areas).5
In our patient, clinical presentation was most consistent with LET. Histopathologic examination showed superficial and deep lymphocytic infiltration in a perivascular and periadnexal distribution (Figure 4).
Figure 4. Superficial and deep lymphocytic infiltration in a perivascular and periadnexal distribution.
Figure 5. On closer inspection, collagen spacing widening with blue, wispy material most consistent with dermal interstitial mucin deposition was seen (
Figure 6. Colloidal iron stain confirmed presence of increased interstitial mucin
Figure 7. There was no follicular plugging, dermoepidermal junction involvement or epidermal change (hyperkeratosis, acanthosis)
Basic laboratory studies (CBC, CMP, LFTs, PT/PTT/INR, and CRP) were within normal limits. Serum ANA titer was negative (titer less than 1:160) and anti-Ro/SSA antibody was negative as determined by standard ELISA. Total hemolytic complement (CH50) and complement components (C3 and C4) were within normal limits.
We chose to order complement studies in this patient despite low clinical suspicion for systemic disease because localized lupus-like skin disease has been described as the presenting sign of young, prepubescent children with inherited complement deficiencies. Deficiency of C1q, the first component of the classical pathway and other early classical pathway complement components (C2, C4) are associated with the development of lupus-like disease, including localized skin disease, nephritis and central nervous system-disease likely because of ineffective antibody-antigen complexes clearance.6 Without these early complement components, antibody-antigen complexes are not cleared, can deposit in end organs and tissues, cause tissue injury, and may, in turn, stimulate autoantibody generation to various organ and tissues.6
Our patient has experienced clinical improvement with aggressive UV-avoidance and topical triamcinolone 0.1% cream twice a day x 2 weeks with transition to hydrocortisone valerate 0.2% cream twice a day x 2 weeks. Our patient will continue to be followed for clinical resolution and intra-lesional therapy and/or oral antimalarial will be considered if complete clearance is not achieved with topical therapy alone.
Alexis L. Dougherty, MD, is with Texas Tech Health Science Center, Department of Dermatology, in Lubbock, TX.
Cloyce L. Stetson, MD, is the chair of Department of Dermatology and Residency Program Director, at Texas Tech Health Science Center.
Dr. Khachemoune, the Section Editor of Derm DX, is with the Department of Dermatology at the State University of New York Downstate in Brooklyn, NY.
Disclosures: The authors have no conflicts of interest to report.
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2. O’Toole EA, Powell F, Barnes L. Jessner’s lymphocytic infiltrate and probable discoid lupus erythematosus occurring separately in two sisters. Clin Exp Dermatol. 1999; 24(2):90-93.
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4. Tan EM, Cohen AS, Fries JF, et al. The revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1982;25(11):1271-1277.
5. Samanta A, Goh L, Bawendi A. Guidelines for the monitoring of hydroxychloroquine: reply. Rheumatology. 2004;43(8):1059.
6. Vassallo G, Newton RW, Chieng SE, Haeney MR, Shabani A, Arkwright PD. Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency. Rheumatology(Oxford). 2007;46(10):1612-1614.