Juvenile dermatomyositis: a case study

Michelle Schneider, BSN, RN, & Kathleen Murphy, PhD, MS over the bridge of the nose along with a purplish rash Juvenile dermatomyositis, pediatric, skin rash, muscle over her eyelids that had been present for approxi- mately 6 to 8 weeks. In addition, the child had a pruriticbumpy rash on her upper arms, elbows, knuckles, and knees and an elongated purplish area on her right shin.
A mother reports that her daughter has a rash on her face, The child’s mother stated, “The facial rash seems to an itchy rash on her upper arms, hands, and right shin, as worsen after she has been in the sun.” The mother well as fecal incontinence and vomiting after large meals.
also reported that the child had several “bowel acci-dents” a day, that her stool is “liquid,” and that she “fre- quently vomits after eating a large meal and then A 7-year-old White girl presented with an erythematous resumes eating 15 to 30 minutes later.” rash located bilaterally on her cheeks and extending The rash first developed after swimming for several hours on a summer day. The erythematous facial rash presented more on the right side than the left and Andrea Kline Tilford, MS, RN, CPNP-PC/AC, bilaterally on her eyelids. Sun exposure made the rash worse. The rash was associated with pruritus. Top- ical treatment with diphenhydramine and over-the- counter hydrocortisone did not improve the rash. The patient was seen multiple times by a pediatrician,who prescribed topical steroids for eczema. This treatment was ineffective and the rash continued to progress in severity, extending to the elbows, knees, anterior aspect of both legs, and to the lateral and medial malleolus. The rash became more erythematous and scaly with excoriations as a result of itching. A der- Michelle Schneider, Staff Registered Nurse, Graduate Student,University of Texas Health Science Center at Houston School of Nursing, Houston, TX, and Staff Nurse, Labor and Delivery, The child had a history of gastric reflux, eczema, reac- Memorial Hermann HospitaleThe Woodlands, The Woodlands, TX.
tive airway disease, and leg-length discrepancy (her Kathleen Murphy, Suzie Conway Professor of Nursing, Department left leg is shorter than the right leg). She had no prior of Integrative Nursing Care, School of Nursing, University of Texas surgeries. All immunizations were current. Medications Health Science Center at Houston, Houston, TX.
she was currently taking included Singulair, 4 mg daily, Conflicts of interest: None to report.
and the following medications on an as-needed basis: Correspondence: 135 Prairie Dawn Cir, The Woodlands, TX Claritin, Sudafed, Nasonex nasal spray, Robitussin DM, ibuprofen, topical diphenhydramine cream, and J Pediatr Health Care. (2011) 25, 38-43.
topical hydrocortisone cream. The patient is on target Copyright Ó 2011 by the National Association of PediatricNurse Practitioners. Published by Elsevier Inc. All rights The patient was born at 38.5 weeks gestation via forceps-assisted vaginal delivery. The mother was negative for group B streptococcus and had no known dilation; Gottron’s papules on the proximal interpha- langeal joints, knees, elbows, and first two metatarsalsbilaterally; cuticular overgrowth; and capillary ery- thema. Moderate erythema and vasodilation was ob- Significant family history includes a maternal grand- served on the eyelids (heliotrope rash), and she had mother with hypothyroidism, a maternal uncle with a malar rash. Her pupils were equal, round, and reactive psoriatic arthritis, a maternal cousin with type I diabetes to light; the disks were sharp. A bilateral ankle exam mellitus, and a maternal great uncle with lupus.
revealed limited range of motion. Her hamstringswere tight and she had a leg length discrepancy of 1 cm, with the right leg longer than the left; in addition, The patient is an alert, cooperative young girl in no her right shoulder was higher than her left shoulder. A apparent distress. Her vital signs are as follows: oral tem- neurologic examination was significant for neck flexor perature, 36.5C (97.7F); heart rate, 105 beats per min- strength, which was 3/5; in addition, upper proximal ute; respiratory rate, 22 breaths per minute; and blood muscle strength was 3/5 and lower muscle strength pressure, 113/65 mm Hg. Her weight is 22.5 kg (42nd was 3/5. She had a negative Gower’s sign and was percentile) and her height is 119.3 cm (27th percentile).
able to sit up with her arms out, crossed, and behind A skin examination revealed that the child had nail her head. The remainder of her physical examination fold erythema and nail bed telangiectasia; no palate 1. What differential diagnoses should be considered for this patient?2. What are some other possible clinical manifestations of juvenile dermatomyositis that this patient does not exhibit?3. What are the criteria for diagnosis of juvenile dermatomyositis?4. What initial diagnostic tests are you considering?5. What treatment plan and follow-up should be recommended? 1. What differential diagnoses should be considered a greater clinical anti-inflammatory response. Topical steroids and new nonsteroidal creams such as tacrolimus Skin rash differential diagnoses include psoriasis, ec- (Protopic) or pimecrolimus (Elidel) may be used as an Based on the “classic rash” on the child’s hands, the initial dermatology consultant gave the preliminary The differential diagnoses for the gastrointestinal diagnosis of juvenile dermatomyositis (JDM). A second clinical manifestations (i.e., vomiting, diarrhea, and fecal dermatological opinion was sought by the family. Lab- incontinence) should include viral, bacterial, and para- oratory tests for creatine kinase and aldolase were ordered, and these levels were elevated. The second dermatologist agreed with the preliminary diagnosis of JDM and referred the patient to a pediatric rheuma- tologist. Proximal muscle weakness and hoarseness began to manifest, and the child was admitted to the hospital. Several diagnostic tests were performed, in- cluding a magnetic resonance imaging (MRI) scan of the lower extremities and a muscle biopsy of the left wel disease and celiac disease also should be ruled out vastus lateralis; findings were consistent with JDM.
She received two pulses of intravenous methylpredni- the muscle weakness include viral and bacterial infec- solone and was discharged home with a prescription tions, systemic lupus erythematosus, juvenile arthritis, for oral prednisone, 40 mg every morning (approxi- mately 1.5 mg/kg/day), hydroxychloroquine, 100 mg 2. What are some other possible clinical manifesta- every morning, and Prevacid, 15 mg daily.
tions of juvenile dermatomyositis that this patient does The JDM pruritic skin rash can resemble an allergic skin reaction. However, the JDM rash generally is less re- JDM is a rare, potentially life-threatening systemic sponsive to topical steroid creams (when used alone) vasculopathy of unknown origin that appears to be than are allergic skin rashes. Systemic steroids result in autoimmune in nature. It primarily affects the skin and muscles but can affect the gastrointestinal tract, climb stairs or get into and out of a car ( . Changes in the child’s voice quality, coughing, very serious in nature, the prognosis is generally excel- and dysphagia may be clinical manifestations described lent. The use of early, aggressive corticosteroid therapy by the parents. Muscular weakness can include the has improved lifetime mortality rates from approxi- esophagus, lower esophageal sphincter, and respiratory mately 30% 40 years ago to less than 2% today Approximately 30% of children with JDM will clic course (permanent remission after 2 to 3 years of have dystrophic calcification affecting pressure points, treatment), others have a polycyclic course (remission elbows, knees, digits, and buttocks. Calcification may and exacerbation periods), and some have a chronic or may not be a presenting symptom. It usually begins 1 to 3 years after the onset of symptoms. Ongoing, un- The incidence of JDM in the United States is approxi- treated inflammation may contribute to its development mately 3 per 1 million children per year. The average age at onset is 7 years, and girls are affected twice as often as Lipodystrophy, a disorder of the adipose tissue in which selective loss of body fat occurs, is a complication exists, but studies suggest an environmental infectious of JDM in approximately 10% to 40% of patients, and the pathogen trigger, especially in children who report presentation may be generalized, partial, and local. Lip- a history of gastrointestinal or respiratory infection in odystrophy presence predicts a chronic disease course the previous 3 months (e.g., Coxsackie B virus or entero- with concomitant calcinosis, muscle contractures, and between ultraviolet sun exposure and initiation of symp- 3. What are the criteria for diagnosis of juvenile toms; however, studies supporting this link have been in- however, aggravate or exacerbate existing symptoms, include the characteristic skin rash and three of especially in sun-exposed areas of the body ( the following: symmetrical muscle weakness of the upper and lower proximal muscles, increased levels of photo-protective clothing is strongly recommended serum muscle enzymes, and myopathic electromyogra- phy or characteristic pathologic changes revealed by JDM may be difficult to diagnose because of the var- a muscle biopsy. This patient met three of the four criteria iation in clinical presentation. Approximately 50% of at time of preliminary diagnosis. She presented with the children present with rash as their initial symptom classic skin rash, proximal muscle weakness, and and 25% present with weakness as their first symptom elevated levels of serum muscle enzymes. An initial elec- tromyography while she was hospitalized was inconclu- tions may include a v-sign rash or “shawl” sign around sive. A lower extremity MRI scan detected muscle the neck that may appear only in the sun-exposed inflammation in both thighs. A muscle biopsy subse- area of the neck and may be photosensitive ( quently was performed on her left vastus lateralis muscle.
Findings from the muscle biopsy provided the fourth Gottron’s papules, such as those observed in this criteria necessary for a confirmatory diagnosis of JDM.
case, may appear as skin thickening or look like “alliga- 4. What initial diagnostic tests are you considering? tor skin” over the metacarpal and phalangeal joints, Blood tests to measure specific markers of muscle knees, and elbows. The pruritic rash also may involve inflammation should be ordered including creatine kinase, lactate dehydrogenase, aldolase, aspartate adult dermatomyositis population approximately 10% to 20% of patients present with amyopathic (or skin only) cases that eventually progress to myositis count with differential and stool cultures would rule out pathogenic agents responsible for vomiting and bling effect of the skin) as a result of vasculitis may be diarrhea. To rule out Celiac sprue or inflammatory bowel disease, serologic testing or an intestinal biopsy The inflammatory response is variable. Muscle weak- ness that is mild may be easily overlooked, and inflamma- Electromyography may demonstrate myopathy and tion may be detectable only on an MRI scan denervation. Because muscle inflammation may be patchy, electromyography is not always diagnostic, as response, muscle damage may occur, leading to weak- was seen with this patient. MRI scans have become ness and atrophy. If muscle weakness becomes pro- more widely used and can be helpful in choosing the found, the child often will compensate by using larger correct muscle biopsy site. Muscle biopsy findings that muscle groups to carry out daily activities. Weakness are consistent with JDM are perifascicular atrophy, peri- may only become apparent when the child can no longer vascular inflammatory infiltrates, internal myonuclei, methylprednisolone has a greater bioavailability than does oral prednisone and may be more effective in pa- Initial diagnostic tests included CK and aldolase, tients who have vasculitis in their bowel, causing poor which were elevated at 1422 units/L and 16 units/L, respectively, and helped confirm a preliminary JDM travenous methylprednisolone may be given once or in diagnosis. After referral to a pediatric rheumatologist, repeat doses with low-dose oral prednisone. Adverse this child underwent several additional diagnostic tests; reactions may include hypertension, stomach ulcera- the abnormal findings are listed in the .
tion, anorexia, nausea, ecchymoses, adrenal suppres- 5. What treatment plan and follow-up should be sion, hyperglycemia, hypokalemia, thrombophlebitis, weight gain, muscle wasting, Cushingoid appearance, Early JDM diagnosis and aggressive pharmacologic and immunosuppression (i.e., delayed wound healing corticosteroid treatment are key to favorable outcomes and increased susceptibility to infection). Use of intra- venous methylprednisolone with low-dose oral predni- may never see a case of JDM in their careers, and because sone may spare some of the untoward adverse effects the presenting symptoms may vary, diagnosis can be a challenge. As in this case, it is not uncommon for as In addition to its steroid-sparing effects, early intro- many as four to five practitioners to be consulted before duction of methotrexate (once per week orally or subcu- taneously) as an ancillary treatment may improve more, some signs associated with a poor prognosis may strength, reduce disease activity, and reduce the inci- be subtle and therefore missed. The delayed diagnosis often is accompanied by continued and increasing in- administered to prevent folic acid deficiency anemia resulting from adverse effects of methotrexate. Calcium and vitamin D supplements are given prophylactically for bone protection. Hydroxychloroquine, a relatively safe antimalarial drug, may be used to treat the skin rash. It is proposed that hydroxychloroquine has certain mechanisms of action on specific immune cells that activate JDM and that the administration of this drug di- minishes symptomatology and is therefore steroid spar- ing. Hydroxychloroquine adverse effects may include loss of color vision, decreased field of vision, or damage leagues (2008) state that a delay in the use of corticoste- roid treatment “is one of the most important predictors of Ophthalmologist visits are strongly recommended every poor outcome and chronic illness course, including a de- 6 months for patients taking hydroxychloroquine.
crease in bone density and chronic skin disease.” Admin- Cyclosporin may be added for its steroid-sparing ef- istration of subcutaneous methotrexate and pulses of fects as well, but an untoward adverse effect is hirsutism intravenous methylprednisolone upon initiation of corti- costeroid therapy may “shorten the course of the illness, immunoglobulin has been used for refractory cases, reduce calcinosis, reduce the likelihood of a flare later in the course of the illness, and increase the chance of re- systemic tacrolimus, azathioprine, mycophenolate mo- of subcutaneous methotrexate also may reduce cortico- fetil, Rituximab, and cyclophosphamide for severe and steroid toxicity and result in less weight gain, better Physiotherapy should be initiated early for muscle strengthening and conditioning; it can be safely com- Aggressive oral corticosteroid therapy given in divided doses is the treatment mainstay. Treatment gen- erally continues over a 2- to 3-year period and is gradu- gist who is familiar with JDM should occur as soon as ally tapered as clinical improvements are seen. The use of steroid-sparing drugs such as methotrexate and oral This child’s mild muscle weakness was not easily de- hydroxychloroquine introduced early in the course of tectable on initial examination. It is not uncommon for treatment allows for a lower cumulative corticosteroid the rash to present first with mild muscle weakness that dose, less potential weight gain, and improvement in may be missed by the untrained eye. Her mild muscle growth velocity compared with treatment with cortico- weakness progressed and ultimately was detected by a pediatric rheumatologist. After a muscle biopsy pro- Patients with JDM often have decreased absorption vided a confirmatory diagnosis, two pulse doses of because of gastrointestinal vasculopathy. Intravenous intravenous methylprednisolone were administered.
TABLE. Diagnostic studies for juvenile dermatomyositis Positive for articular inclusions, capillary loss, perivascular chronic inflammatory changes, Concurrent treatment with oral prednisone and oral hy- levels and muscle strength. Active disease indicates droxychloroquine was begun. Methotrexate adminis- the need for continued aggressive treatment until all tered subcutaneously once per week and a daily dose clinical signs of disease activity are gone ( of oral folic acid were added approximately 6 weeks later. Methotrexate doses were adjusted throughout It is crucial for the primary care practitioner and the course of treatment. The dosage of oral prednisone various specialists to provide collaborative care. Having was tapered over 6 months. A daily dose of Prevacid one primary care practitioner be at the center of and Zofran (as needed) were ordered to manage gastric what may become a large circle of specialists is impor- distress. To protect her bones, she began to take cal- cium and vitamin D every day. Her muscle inflamma- tion responded well to the initial doses of prednisone, and she regained most of her muscle strength in approximately 4 to 6 weeks. However, her skin rash proved to be refractory, which is not an uncommon occurrence; skin manifestations tend to improve more slowly than muscle strength, and persistent skin inflam- mation sometimes requires different therapies Once she was weaned from prednisone and metho- trexate, she experienced a skin flare (with no muscle in- volvement) that consisted of pruritus, worsening of Gottron’s papules, and periungual telangiectasias. Oral mycophenolate mofetil was added to her regimen over a 15-month period. After 4 months of taking mycophe- nolate mofetil she continued to have skin inflammation, of 2 to 3 years of treatment may be given, but because and thus intravenous administration of immunoglobulin each child’s symptoms present differently and each was begun. She received 10 g every 4 weeks for 6 child responds differently to medication regimens, no months, then every other month for a duration of 12 absolute parameters may be given. The family not months. At the end of 12 months, she had no signs of only will be trying to process the immediacy of the active disease. Tapering of her remaining medications needed treatment, but they also may be grieving the continued without consequence, and she was declared in remission 36 months after initiation of treatment.
The importance of taking medications regularly in order to keep the disease at bay should be stressed.
Teaching must also involve skills in caring for an immu- nosuppressed child, such as frequent hand washing and Children who have had ongoing undiagnosed illness keeping the child away from others who are ill. Immu- may not meet all the criteria for a diagnosis of JDM.
nosuppressive therapy requires serial laboratory work Their muscle enzymes may normalize over time, mak- to follow the patient’s progress and to ensure that the ing muscle inflammatory markers alone a poor indicator patient does not become too immunocompromised.
The family will need to be educated in this regard.
reason, it is imperative for the practitioner to unders- Because the JDM rash can be photosensitive, regular tand that a persistent skin rash indicates continued use of sunscreen with a sun protective factor of at least 30 active disease even in the presence of normal enzyme is recommended. The family also should be instructed about the importance of wearing photo-protective preceding juvenile dermatomyositis symptom onset. Rheuma- clothing such as hats and long-sleeved shirts when Pachman, L. M., Abbott, K., Sinacore, J. M., Amoruso, L., Dyer, A., Lipton, R., & Ramsey-Goldman, R. (2006). Duration of illness is The family should purchase the child a medic alert an important variable for untreated children with juvenile derma- bracelet. Should the child become acutely ill, it is imper- tomyositis. The Journal of Pediatrics, 148, 247-253.
ative that medical personnel have access to the child’s Pachman, L. M., Lipton, R., Ramsey-Goldman, R., Shamiyeh, E., medical diagnosis and an accurate list of medications.
Abbott, K., Mendez, E., & Borzy, M. (2005). History of infectionbefore the onset of juvenile dermatomyositis: Results fromthe National Institute of Arthritis and Musculoskeletal and Skin Diseases Research Registry. Arthritis & Rheumatism, 53, Families of children who are newly diagnosed with JDM are often overwhelmed. Cure JM is an organization Pilkington, C. A., & Wedderburn, L. R. (2005). Paediatric idiopathic inflammatory muscle disease. Drugs, 65(10), 1355-1365.
that helps families learn more about the disease and Porth, C. M., & Matfin, G. (2009). Pathophysiology: Concepts of al- connect with other families who have children with tered health. In H. Surrena, H. Koogut, B. Spade, D. Schiff & JDM for support. Families should be strongly encour- E. Kors (Eds.), Structure and function of the gastrointestinal system (8th ed., pp. 894-948). Philadelphia: Lippincott Williams dition, a JDM diagnosis qualifies the child to participate Rider, L. G., Pachman, L. M., Miller, F. W., & Bollar, H. (2007a).
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