569209

research-article2015

CPJXXX10.1177/0009922815569209Clinical PediatricsBjornstad et al

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Erythema Nodosum and Fevers

Clinical Pediatrics 1­–2 © The Author(s) 2015 Reprints and permissions: sagepub.com/journalsPermissions.nav DOI: 10.1177/0009922815569209 cpj.sagepub.com

Erica C. Bjornstad, MD, MPH1, Kirk James, MD1, Donna Culton, MD, PhD1, Christine Williams, MD1, and Richard M. Wardrop III, MD, PhD1 Case Report A 13-year-old biracial (east Asian and northern European) male with history of recurrent fevers, tonsillectomy, and biopsy-proven Henoch-Schönlein purpura presented with new painful, erythematous nodules on his anterior lower extremities. He endorsed left knee swelling, stiffness with walking, fatigue, decreased appetite, frequent epistaxis, and occasional diarrhea. His parents reported cyclical fevers since infancy, occurring approximately every 4 weeks with each episode lasting for 3 to 5 days, often associated with sore throat and diarrhea. There was no family history of autoimmune or connective tissue disorders, or periodic fever syndromes. The patient had mild hepatosplenomegaly, tender erythematous subcutaneous nodules on his anterior bilateral lower extremities, and a small effusion of his left knee. He was initially afebrile without oral ulcerations or palpable lymphadenopathy. However, on the night of admission he developed fevers. Initial laboratory values revealed microcytic anemia, normal white blood cell count, and reticulocyte count but elevated inflammatory markers (erythrocyte sedimentation rate 139 mm/h, C-reactive protein 16 mg/dL). Initial computed tomography imaging showed diffuse mesenteric and retroperitoneal adenopathy.

Final Diagnosis Hyperimmunoglobulin D syndrome.

Hospital Course During his hospitalization, he developed new purpuric lesions on the lower extremities and urticarial lesions on the upper extremities. Bone marrow biopsy was normal and lymph node biopsy showed nonspecific reactive features. Skin biopsies confirmed erythema nodosum on the anterior lower extremities and less specific findings of mixed dermal infiltrate with lymphocytes, neutrophils and eosinophils on the purpuric and urticarial lesions. Extensive cultures and serologic testing failed to reveal an infectious or autoimmune etiology. Immunology testing revealed elevated serum IgA (1321 mg/dL) and

IgD (165 mg/dL). With the clinical picture of periodic fevers, erythema nodosum and other cutaneous findings, diarrhea, and elevated IgD and IgA levels, hyperimmunoglobulin D syndrome (HIDS) was suspected. Mevalonate kinase (MVK) genetic testing confirmed the diagnosis of HIDS. However, the patient did have normal levels of methylmalonic acid in his serum and urine. Since hospital discharge, he has had additional episodes of fever and associated symptoms that were aborted and less severe using prednisone at the onset of symptoms.

Discussion Erythema nodosum in a pediatric patient is often associated with a variety of disease processes including infectious, autoimmune, rheumatologic, oncologic, in addition to inflammatory bowel disease.1,2 Up to a quarter of presentations are idiopathic.1 Other pertinent physical examination findings and historical clues often direct the astute clinician toward the appropriate diagnostics and treatment options. However, a high index of suspicion is needed to make a specific diagnosis for rare disorders, particularly periodic fever syndromes such as HIDS. In typical patients with HIDS the diagnosis is often delayed because of an indolent course and nonspecific cutaneous findings. This case illustrates the importance of obtaining a thorough history as erythema nodosum often indicates an underlying disorder. The myriad of symptoms associated with HIDS (gastrointestinal manifestations, tender lymphadenopathy, arthritis, arthralgias, mucocutaneous ulcerations) are nonspecific but the classical and characteristic recurrence of febrile episodes is the key feature.3-6 HIDS is a rare, autoinflammatory periodic fever syndrome that can often go undiagnosed for years due to

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University of North Carolina Hospitals, Chapel Hill, NC, USA

Corresponding Author: Erica C. Bjornstad, University of North Carolina Hospital, 260, MacNider Building, CB 7220, UNC School of Medicine, Chapel Hill, NC, 27599-7220, USA. Email: [email protected]

Downloaded from cpj.sagepub.com at GEORGIAN COURT UNIV on April 7, 2015

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Clinical Pediatrics 

its nature of self-resolving febrile episodes that can easily be misdiagnosed as viral illnesses. Cutaneous findings occur in approximately twothirds of patients.4 However, there is no one distinguishing rash and the typical rash is a nonspecific, erythematous, generalized maculopapular rash.4,7-9 This case is unique in that the patient presented initially with erythema nodosum, biopsy-proven, and developed multiple other cutaneous findings simultaneously. There are reports of urticarial and purpura-like lesions.7,9 An extensive review of cutaneous findings in 44 patients by Drenth et al9 found urticarial lesions and erythematous nodules to be the next most common lesions. However, this review was prior to genetic identification for diagnosing HIDS and biopsies were not completed on the majority of the patients with erythematous nodules.9 There are few other reports of HIDS presenting with erythema nodosum. Patients with HIDS also typically present with one type of cutaneous finding consistently, rarely seen with multiple cutaneous findings as seen in our patient.9 Periodic fever syndromes are often diagnosed clinically but genetic testing has advanced our abilities to confirm these diagnoses. An autosomal recessive condition, HIDS is the milder form of 2 autoinflammatory syndromes associated with genetic mutations of the MVK gene on long arm of chromosome 12.4 The other syndrome with deficiency of MVK enzyme is mevalonic aciduria; however, this often presents with much more severe symptoms, such as mental retardation, microcephaly, developmental delays, failure to thrive, and ocular involvement such as uveitis.4-6 The MVK enzyme is essential for the production of cholesterol and isoprenoids.3,4 The MVK enzyme maintains residual activity (

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