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Linear Morphea With Inflammatory Myositis
CASE REPOSITORY
Linear Morphea With Inflammatory Myositis Mark S. Morris, MD,* George Matcuk, MD,† Brittney K. DeClerk, MD,‡ Daniel Arkfeld, MD,§ Milan Stevanovic, MD, PhD*
Morphea is an autoimmune disorder characterized by sclerosis and inflammation of the skin and soft tissues. Early diagnosis and treatment are essential to minimize morbidity such as joint contracture. In this report, we present the case of a 19-year-old man with linear morphea with inflammatory myositis who presented to our clinic 1 year after symptom onset with severe elbow flexion contracture. Through reviewing this rare disorder, it is hoped that early diagnosis will lead to better outcomes in the future. (J Hand Surg Am. 2019;-(-):1.e1-e5. Copyright Ó 2019 by the American Society for Surgery of the Hand. All rights reserved.) Key words Linear morphea, inflammatory myositis, scleroderma, joint contracture, orthopedic complications.
M
autoimmune disorder of the skin and soft tissues. The incidence of morphea is 0.4 to 2.7 per 100,000 people.1 Subtypes of morphea include linear (most common pediatric-onset subtype), generalized (most common adult-onset subtype), plaque, and mixed.2 Patients present with erythema and induration of the skin, which may be accompanied by pain or pruritus. Untreated, those affected can progress to develop debilitating joint contracture.3 We present the case of a patient with linear morphea with inflammatory myositis. The patient presented to our clinic with a severe elbow joint contracture after being seen by multiple physicians over the course of a year. This is a diagnosis typically ORPHEA IS AN INFLAMMATORY
From the *Department of Orthopaedic Surgery; the †Department of Radiology; the ‡Department of Pathology; and the §Department of Rheumatology, Keck School of Medicine, University of Southern California, Los Angeles, CA. Received for publication April 24, 2019; accepted in revised form October 7, 2019. No benefits in any form have been received or will be received related directly or indirectly to the subject of this article. Corresponding author: Mark S. Morris MD, Department of Orthopaedic Surgery, Keck School of Medicine, University of Southern California, 1520 San Pablo St., Los Angeles, CA 9003; e-mail: [email protected]. 0363-5023/19/---0001$36.00/0 https://doi.org/10.1016/j.jhsa.2019.10.019
made by rheumatology or dermatology, and it is not frequently seen by hand surgeons, thus highlighting the importance of this case report. CASE REPORT The patient was a 19-year-old right-handed man who presented to our clinic with a 1-year history of stiffness in the right upper extremity. He denied any injury, although he was told by multiple physicians prior to our first encounter that he must have had an injury to the right upper extremity. He denied significant physical exertion prior to onset of his symptoms. He also had no prior therapy or treatment prior to presenting to our clinic. His symptoms started with painless erythema of the right upper extremity over his bicep and brachioradialis muscles. He then progressively developed a right elbow flexion contracture as well as increasing difficulty in extending the right wrist. He also complained of pruritus of the skin after getting out of the shower. He had no prior medical problems, and no significant family history. Examination of the patient revealed discontinuous linear sclerotic plaques with areas of erythema, hyperpigmentation, and hypopigmentation over the anterior right arm and volar radial forearm. There were also areas of epidermal atrophy and excoriations
Ó 2019 ASSH
r
Published by Elsevier, Inc. All rights reserved.
r
1.e1
1.e2
LINEAR MORPHEA WITH INFLAMMATORY MYOSITIS
extended into the carpal tunnel. There was no evidence of fatty muscle atrophy. The patient was referred to rheumatology for further work-up. Laboratory results showed an erythrocyte sedimentation rate of 16 mm/h, C-reactive protein of 19.6 mg/L, antinuclear antibodyepositive titer of 1,280, rheumatoid factor less than 10 IU/mL, and no eosinophilia on complete blood count with differential. The patient agreed to proceed with skin, muscle, and fascial biopsies from the right arm and forearm. The skin biopsy showed diffuse dermal sclerosis with deep perivascular lymphoplasmacytic inflammation (Fig. 4). Elevation of the eccrine units with loss of perieccrine fat were noted. There was sclerosis extending throughout the subcutaneous septae and along the muscle fascia with aggregates of lymphocytes and plasma cells (Fig. 5). Eosinophils were scarce. The skeletal muscle biopsy showed endomysial chronic inflammation and mild fiber size variation without fibrosis, consistent with an inflammatory myositis (Fig. 6). A biopsy of the plaque on the abdomen also showed diffuse dermal sclerosis and mild deep perivascular chronic inflammation. A diagnosis of linear morphea with associated fasciitis and myositis was made. The patient was started on prednisone 1 mg/kg, methotrexate 15 mg weekly, and folic acid. The patient also initiated physical therapy. Three months after initiating therapy, there was a noticeable softening of his skin plaques and the elbow flexion contracture had improved by 10 . However, new superficial plaques had developed on the left upper arm.
FIGURE 1: Clinical photograph shows discontinuous linear sclerotic plaques with areas of erythema, hyperpigmentation, and hypopigmentation over the anterior right arm and volar radial forearm.
(Fig. 1). The skin and muscles in the anterior compartment of the arm and volar compartment and mobile wad of the forearm were firm to palpation. He had a 45 flexion contracture of the elbow (Fig. 2). His wrist motion was limited to 10 of extension and 40 of flexion. The fingers could not be fully actively extended. Palpation and range of motion did not cause any pain. Examination of his contralateral upper extremity showed a 3-cm sclerotic plaque with mottled hyperpigmentation and hypopigmentation. There was some epidermal atrophy with cigarette paper skin changes. A similar plaque was also noted on his abdomen. Radiographs of the right upper extremity showed normal bony architecture without any soft tissue calcifications. Magnetic resonance imaging (MRI) with and without contrast was performed (Fig. 3) and demonstrated extensive perifascial edema and enhancement of the right arm and forearm. There were patchy areas of mild muscle edema and enhancement, such as in the lateral head of the deltoid, brachialis, and extensor digitorum longus and the flexor digitorum longus and flexor carpi radialis muscle bellies. Perifascial edema and enhancement J Hand Surg Am.
DISCUSSION Delay in diagnosis is very common for patients with morphea. Sixty-three percent of patients are given a diagnosis more than 6 months after onset of symptoms, and 25% of patients wait more than 2 years after symptom onset to receive a diagnosis.4 Morphea is characterized by sclerosis with or without associated inflammation of the skin and occasionally the underlying soft tissues. Patients with active lesions of morphea present with erythema and induration of the skin. Deep lesions may not have surface changes and are identified by palpation. Eventually, sclerosis leads to atrophy, and the skin can become shiny and atrophic, with visible underlying vessels.1 Untreated, morphea can progress to cause joint contracture, as was the case in our patient.5 r
Vol. -, - 2019
LINEAR MORPHEA WITH INFLAMMATORY MYOSITIS
1.e3
FIGURE 2: Clinical photographs show A full elbow flexion B and extension at presentation. The patient presented with a 45 flexion contracture.
FIGURE 3: Axial T1-weighted MRI with contrast. There is extensive fascial enhancement and patchy myositis, including involvement of the A deltoid, B brachialis, C flexor digitorum longus, and D carpal tunnel.
Recommended laboratory work-up includes complete blood count with differential, rheumatoid factor, erythrocyte sedimentation rate, C-reactive protein, and antinuclear antibody. Imaging begins with radiographs to look for soft tissue calcifications or osseous abnormalities that would otherwise explain joint stiffness. An MRI with and without contrast is J Hand Surg Am.
done to determine the extent of disease, including skin, subcutaneous tissue, fascia, and muscle. Biopsy should be performed to exclude malignancy and to differentiate from other sclerosing conditions. The main differential diagnosis in our patient was eosinophilic fasciitis. Eosinophilic fasciitis is classically a symmetrical process with swelling, erythema, and r
Vol. -, - 2019
1.e4
LINEAR MORPHEA WITH INFLAMMATORY MYOSITIS
FIGURE 4: A, B Skin biopsy shows diffuse dermal sclerosis with deep perivascular lymphoplasmacytic inflammation.
predominantly. Tissue eosinophilia and peripheral eosinophilia are common. Symptoms often arise after strenuous physical activity. Our patient showed an asymmetrical process with marked epidermal and dermal changes, a lack of peripheral eosinophilia, and rare tissue eosinophils, arguing against a diagnosis of eosinophilic fasciitis. On MRI, musculoskeletal involvement is identified in 74% of patients with morphea, with subcutaneous septal thickening (65%), fascial thickening (60%), fascial enhancement (53%), articular synovitis (40%), tenosynovitis (21%), perifascial enhancement (16%), myositis (14%), enthesitis (7%), and bone marrow involvement (5%) the salient imaging findings.6 The differential diagnosis for these imaging findings in the appropriate clinical setting includes systemic sclerosis, dermatomyositis, necrotizing fasciitis, lipodermatosclerosis, eosinophilic fasciitis, nephrogenic systemic fibrosis, and chronic graftversus-host disease.1,7 An MRI can also be used to assess treatment response in morphea, with treatment responders showing decreased subcutaneous septal thickening, fascial enhancement, and articular synovitis relative to those with stable disease.8 In a study of 51 children with linear morphea, Schoch et al9 found that 23 patients (45%) had at least 1 joint contracture. Seven patients (14%) in their study required surgical intervention for orthopedic complications of morphea. Mild contractures may be well tolerated and can be successfully treated with therapy, but more severe contracture that interferes with activities of daily living may require surgical intervention. Linear morphea is not well described in the orthopedic literature. Linear morphea with myositis is even less commonly reported. We present our case to increase awareness and aid in diagnosis of future patients in hopes that earlier treatment can be initiated to avoid complications such as joint contracture.
FIGURE 5: Skin biopsy shows sclerosis extending throughout the subcutaneous septae and along the muscle fascia with aggregates of lymphocytes and plasma cells.
FIGURE 6: Skeletal muscle biopsy shows endomysial chronic inflammation and mild fiber size variation without fibrosis, consistent with an inflammatory myositis.
induration of the extremities. Patients also typically have a lack of epidermal and dermal involvement, with the process affecting the deep soft tissue
J Hand Surg Am.
r
Vol. -, - 2019
LINEAR MORPHEA WITH INFLAMMATORY MYOSITIS
REFERENCES
5. Condie D, Grabell D, Jacobe H. Comparison of outcomes in adults with pediatric-onset morphea and those with adult-onset morphea. Arthritis Rheumatol. 2014;66(12):3496e3504. 6. Schanz S, Fierlbeck G, Ulmer A, et al. Localized scleroderma: MR findings and clinical features. Radiology. 2011;260(3):817e824. 7. Horger M, Fierlbeck G, Kuemmerle-Deschner J, et al. MRI findings in deep and generalized morphea (localized scleroderma). AJR Am J Roentgenol. 2008;190(1):32e39. 8. Schanz S, Henes J, Ulmer A, et al. Response evaluation of musculoskeletal involvement in patients with deep morphea treated with methotrexate and prednisolone: a combined MRI and clinical approach. AJR Am J Roentgenol. 2013;200(4):W376eW382. 9. Schoch JJ, Schoch BS, Werthel JD, McIntosh AL, Davis DMR. Orthopedic complications of linear morphea: implications for early interdisciplinary care. Pediatr Dermatol. 2018;35(1):43e46.
1. Florez-Pollack S, Kunzler E, Jacobe HT. Morphea: current concepts. Clin Dermatol. 2018;36(4):475e486. ˛ ty A, Skrzypek-Salamon A, Ramosz-Janicka I, Brzezinska2. Lis-Swie Wcislo L. Localized scleroderma: clinical and epidemiological features with emphasis on adulthood- versus childhood-onset disease differences. J Eur Acad Dermatol Venereol. 2017;31(10): 1595e1603. 3. Klimas NK, Shedd AD, Bernstein IH. Jacobe H Health-related quality of life in morphoea. Br J Dermatol. 2015;172(5): 1329e1337. 4. Johnson W, Jacobe H. Morphea in adults and children cohort II: patients with morphea experience delay in diagnosis and large variation in treatment. J Am Acad Dermatol. 2012;67(5):881e889.
J Hand Surg Am.
1.e5
r
Vol. -, - 2019
Linear Morphea With Inflammatory Myositis Mark S. Morris, MD,* George Matcuk, MD,† Brittney K. DeClerk, MD,‡ Daniel Arkfeld, MD,§ Milan Stevanovic, MD, PhD*
Morphea is an autoimmune disorder characterized by sclerosis and inflammation of the skin and soft tissues. Early diagnosis and treatment are essential to minimize morbidity such as joint contracture. In this report, we present the case of a 19-year-old man with linear morphea with inflammatory myositis who presented to our clinic 1 year after symptom onset with severe elbow flexion contracture. Through reviewing this rare disorder, it is hoped that early diagnosis will lead to better outcomes in the future. (J Hand Surg Am. 2019;-(-):1.e1-e5. Copyright Ó 2019 by the American Society for Surgery of the Hand. All rights reserved.) Key words Linear morphea, inflammatory myositis, scleroderma, joint contracture, orthopedic complications.
M
autoimmune disorder of the skin and soft tissues. The incidence of morphea is 0.4 to 2.7 per 100,000 people.1 Subtypes of morphea include linear (most common pediatric-onset subtype), generalized (most common adult-onset subtype), plaque, and mixed.2 Patients present with erythema and induration of the skin, which may be accompanied by pain or pruritus. Untreated, those affected can progress to develop debilitating joint contracture.3 We present the case of a patient with linear morphea with inflammatory myositis. The patient presented to our clinic with a severe elbow joint contracture after being seen by multiple physicians over the course of a year. This is a diagnosis typically ORPHEA IS AN INFLAMMATORY
From the *Department of Orthopaedic Surgery; the †Department of Radiology; the ‡Department of Pathology; and the §Department of Rheumatology, Keck School of Medicine, University of Southern California, Los Angeles, CA. Received for publication April 24, 2019; accepted in revised form October 7, 2019. No benefits in any form have been received or will be received related directly or indirectly to the subject of this article. Corresponding author: Mark S. Morris MD, Department of Orthopaedic Surgery, Keck School of Medicine, University of Southern California, 1520 San Pablo St., Los Angeles, CA 9003; e-mail: [email protected]. 0363-5023/19/---0001$36.00/0 https://doi.org/10.1016/j.jhsa.2019.10.019
made by rheumatology or dermatology, and it is not frequently seen by hand surgeons, thus highlighting the importance of this case report. CASE REPORT The patient was a 19-year-old right-handed man who presented to our clinic with a 1-year history of stiffness in the right upper extremity. He denied any injury, although he was told by multiple physicians prior to our first encounter that he must have had an injury to the right upper extremity. He denied significant physical exertion prior to onset of his symptoms. He also had no prior therapy or treatment prior to presenting to our clinic. His symptoms started with painless erythema of the right upper extremity over his bicep and brachioradialis muscles. He then progressively developed a right elbow flexion contracture as well as increasing difficulty in extending the right wrist. He also complained of pruritus of the skin after getting out of the shower. He had no prior medical problems, and no significant family history. Examination of the patient revealed discontinuous linear sclerotic plaques with areas of erythema, hyperpigmentation, and hypopigmentation over the anterior right arm and volar radial forearm. There were also areas of epidermal atrophy and excoriations
Ó 2019 ASSH
r
Published by Elsevier, Inc. All rights reserved.
r
1.e1
1.e2
LINEAR MORPHEA WITH INFLAMMATORY MYOSITIS
extended into the carpal tunnel. There was no evidence of fatty muscle atrophy. The patient was referred to rheumatology for further work-up. Laboratory results showed an erythrocyte sedimentation rate of 16 mm/h, C-reactive protein of 19.6 mg/L, antinuclear antibodyepositive titer of 1,280, rheumatoid factor less than 10 IU/mL, and no eosinophilia on complete blood count with differential. The patient agreed to proceed with skin, muscle, and fascial biopsies from the right arm and forearm. The skin biopsy showed diffuse dermal sclerosis with deep perivascular lymphoplasmacytic inflammation (Fig. 4). Elevation of the eccrine units with loss of perieccrine fat were noted. There was sclerosis extending throughout the subcutaneous septae and along the muscle fascia with aggregates of lymphocytes and plasma cells (Fig. 5). Eosinophils were scarce. The skeletal muscle biopsy showed endomysial chronic inflammation and mild fiber size variation without fibrosis, consistent with an inflammatory myositis (Fig. 6). A biopsy of the plaque on the abdomen also showed diffuse dermal sclerosis and mild deep perivascular chronic inflammation. A diagnosis of linear morphea with associated fasciitis and myositis was made. The patient was started on prednisone 1 mg/kg, methotrexate 15 mg weekly, and folic acid. The patient also initiated physical therapy. Three months after initiating therapy, there was a noticeable softening of his skin plaques and the elbow flexion contracture had improved by 10 . However, new superficial plaques had developed on the left upper arm.
FIGURE 1: Clinical photograph shows discontinuous linear sclerotic plaques with areas of erythema, hyperpigmentation, and hypopigmentation over the anterior right arm and volar radial forearm.
(Fig. 1). The skin and muscles in the anterior compartment of the arm and volar compartment and mobile wad of the forearm were firm to palpation. He had a 45 flexion contracture of the elbow (Fig. 2). His wrist motion was limited to 10 of extension and 40 of flexion. The fingers could not be fully actively extended. Palpation and range of motion did not cause any pain. Examination of his contralateral upper extremity showed a 3-cm sclerotic plaque with mottled hyperpigmentation and hypopigmentation. There was some epidermal atrophy with cigarette paper skin changes. A similar plaque was also noted on his abdomen. Radiographs of the right upper extremity showed normal bony architecture without any soft tissue calcifications. Magnetic resonance imaging (MRI) with and without contrast was performed (Fig. 3) and demonstrated extensive perifascial edema and enhancement of the right arm and forearm. There were patchy areas of mild muscle edema and enhancement, such as in the lateral head of the deltoid, brachialis, and extensor digitorum longus and the flexor digitorum longus and flexor carpi radialis muscle bellies. Perifascial edema and enhancement J Hand Surg Am.
DISCUSSION Delay in diagnosis is very common for patients with morphea. Sixty-three percent of patients are given a diagnosis more than 6 months after onset of symptoms, and 25% of patients wait more than 2 years after symptom onset to receive a diagnosis.4 Morphea is characterized by sclerosis with or without associated inflammation of the skin and occasionally the underlying soft tissues. Patients with active lesions of morphea present with erythema and induration of the skin. Deep lesions may not have surface changes and are identified by palpation. Eventually, sclerosis leads to atrophy, and the skin can become shiny and atrophic, with visible underlying vessels.1 Untreated, morphea can progress to cause joint contracture, as was the case in our patient.5 r
Vol. -, - 2019
LINEAR MORPHEA WITH INFLAMMATORY MYOSITIS
1.e3
FIGURE 2: Clinical photographs show A full elbow flexion B and extension at presentation. The patient presented with a 45 flexion contracture.
FIGURE 3: Axial T1-weighted MRI with contrast. There is extensive fascial enhancement and patchy myositis, including involvement of the A deltoid, B brachialis, C flexor digitorum longus, and D carpal tunnel.
Recommended laboratory work-up includes complete blood count with differential, rheumatoid factor, erythrocyte sedimentation rate, C-reactive protein, and antinuclear antibody. Imaging begins with radiographs to look for soft tissue calcifications or osseous abnormalities that would otherwise explain joint stiffness. An MRI with and without contrast is J Hand Surg Am.
done to determine the extent of disease, including skin, subcutaneous tissue, fascia, and muscle. Biopsy should be performed to exclude malignancy and to differentiate from other sclerosing conditions. The main differential diagnosis in our patient was eosinophilic fasciitis. Eosinophilic fasciitis is classically a symmetrical process with swelling, erythema, and r
Vol. -, - 2019
1.e4
LINEAR MORPHEA WITH INFLAMMATORY MYOSITIS
FIGURE 4: A, B Skin biopsy shows diffuse dermal sclerosis with deep perivascular lymphoplasmacytic inflammation.
predominantly. Tissue eosinophilia and peripheral eosinophilia are common. Symptoms often arise after strenuous physical activity. Our patient showed an asymmetrical process with marked epidermal and dermal changes, a lack of peripheral eosinophilia, and rare tissue eosinophils, arguing against a diagnosis of eosinophilic fasciitis. On MRI, musculoskeletal involvement is identified in 74% of patients with morphea, with subcutaneous septal thickening (65%), fascial thickening (60%), fascial enhancement (53%), articular synovitis (40%), tenosynovitis (21%), perifascial enhancement (16%), myositis (14%), enthesitis (7%), and bone marrow involvement (5%) the salient imaging findings.6 The differential diagnosis for these imaging findings in the appropriate clinical setting includes systemic sclerosis, dermatomyositis, necrotizing fasciitis, lipodermatosclerosis, eosinophilic fasciitis, nephrogenic systemic fibrosis, and chronic graftversus-host disease.1,7 An MRI can also be used to assess treatment response in morphea, with treatment responders showing decreased subcutaneous septal thickening, fascial enhancement, and articular synovitis relative to those with stable disease.8 In a study of 51 children with linear morphea, Schoch et al9 found that 23 patients (45%) had at least 1 joint contracture. Seven patients (14%) in their study required surgical intervention for orthopedic complications of morphea. Mild contractures may be well tolerated and can be successfully treated with therapy, but more severe contracture that interferes with activities of daily living may require surgical intervention. Linear morphea is not well described in the orthopedic literature. Linear morphea with myositis is even less commonly reported. We present our case to increase awareness and aid in diagnosis of future patients in hopes that earlier treatment can be initiated to avoid complications such as joint contracture.
FIGURE 5: Skin biopsy shows sclerosis extending throughout the subcutaneous septae and along the muscle fascia with aggregates of lymphocytes and plasma cells.
FIGURE 6: Skeletal muscle biopsy shows endomysial chronic inflammation and mild fiber size variation without fibrosis, consistent with an inflammatory myositis.
induration of the extremities. Patients also typically have a lack of epidermal and dermal involvement, with the process affecting the deep soft tissue
J Hand Surg Am.
r
Vol. -, - 2019
LINEAR MORPHEA WITH INFLAMMATORY MYOSITIS
REFERENCES
5. Condie D, Grabell D, Jacobe H. Comparison of outcomes in adults with pediatric-onset morphea and those with adult-onset morphea. Arthritis Rheumatol. 2014;66(12):3496e3504. 6. Schanz S, Fierlbeck G, Ulmer A, et al. Localized scleroderma: MR findings and clinical features. Radiology. 2011;260(3):817e824. 7. Horger M, Fierlbeck G, Kuemmerle-Deschner J, et al. MRI findings in deep and generalized morphea (localized scleroderma). AJR Am J Roentgenol. 2008;190(1):32e39. 8. Schanz S, Henes J, Ulmer A, et al. Response evaluation of musculoskeletal involvement in patients with deep morphea treated with methotrexate and prednisolone: a combined MRI and clinical approach. AJR Am J Roentgenol. 2013;200(4):W376eW382. 9. Schoch JJ, Schoch BS, Werthel JD, McIntosh AL, Davis DMR. Orthopedic complications of linear morphea: implications for early interdisciplinary care. Pediatr Dermatol. 2018;35(1):43e46.
1. Florez-Pollack S, Kunzler E, Jacobe HT. Morphea: current concepts. Clin Dermatol. 2018;36(4):475e486. ˛ ty A, Skrzypek-Salamon A, Ramosz-Janicka I, Brzezinska2. Lis-Swie Wcislo L. Localized scleroderma: clinical and epidemiological features with emphasis on adulthood- versus childhood-onset disease differences. J Eur Acad Dermatol Venereol. 2017;31(10): 1595e1603. 3. Klimas NK, Shedd AD, Bernstein IH. Jacobe H Health-related quality of life in morphoea. Br J Dermatol. 2015;172(5): 1329e1337. 4. Johnson W, Jacobe H. Morphea in adults and children cohort II: patients with morphea experience delay in diagnosis and large variation in treatment. J Am Acad Dermatol. 2012;67(5):881e889.
J Hand Surg Am.
1.e5
r
Vol. -, - 2019