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British Journal of Oral and Maxillofacial Surgery 52 (2014) 285–287
Short communication
Antisynthetase syndrome: two cases presenting orofacial manifestations M. Gormley ∗ , C. Scully Edinburgh Dental Institute, Lauriston Building, Lauriston Place, Edinburgh, Scotland, UK Accepted 7 December 2013 Available online 27 December 2013
Abstract Antisynthetase syndrome is a rare autoimmune disease that is characterised by inflammatory myositis, and interstitial lung disease or chronic arthropathy, or both. To the best of our knowledge, orofacial manifestations have not previously been reported. We present 2 patients with orofacial disease: one with aphthous-like oral ulceration and the other with hyposalivation. © 2013 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved. Keywords: Antisynthetase syndrome mouth ulcers; Dry mouth; Raynaud phenomenon
Introduction The pathogenesis of antisynthetase syndrome is an autoantibody response that is directed against aminoacyl tRNA synthetases, enzymes vital to protein synthesis. In particular, patients often have histidyl-tRNA synthetase antibodies (anti-Jo-1 antibodies). To the best of our knowledge, orofacial manifestations have not previously been described despite the fact that the condition was first reported almost 25 years ago. Myositis is usually treated with glucocorticoids and azathioprine, methotrexate, ciclosporin, or mycophenolate mofetil.1–4
Case reports Case 1 A 60-year-old white woman had recently had an onset of mouth ulcers that affected the gingiva, buccal mucosa, and ∗ Corresponding author. Tel.: +44 0131 536 4416/4964; fax: +44 0131 536 4971. E-mail addresses: [email protected], [email protected] (M. Gormley).
ventral tongue. She had first noticed ulcers about 5 years previously but the condition had deteriorated over the past 6 months. The ulcers lasted about 10 days and were typically less than 1 cm in diameter. Her medical history included antisynthetase syndrome and Raynaud phenomenon, and she had Jo-1 antibodies. She had some reduction in lung function, together with synovitis, bursitis, and tendonitis, as well as recurrent herpes labialis. She had had a deep venous thrombosis, which was treated with warfarin, and previous blepharitis and occasional skin rashes. Her drug history included mycophenolate mofetil 500 mg 5 times a day for antisynthetase syndrome, and she had allergies to penicillin and erythromycin. Extraoral examination showed a healing lesion of recurrent herpes labialis, Raynaud phenomenon, and mechanic’s hands. Intraoral examination showed small round ulcers 2–3 mm in diameter with a clearly defined margin, a floor of yellowish-grey slough, and an erythematous periphery, on the lower labial mucosa, right soft palate, and left lateral border of the tongue (Fig. 1). The history and clinical findings were consistent with a diagnosis of aphthous-like ulceration.5 The ulcers were possibly part of the spectrum of antisynthetase syndrome. To control them she was prescribed mycophenolate mofetil, and betamethasone mouthwash was prescribed for more severe episodes.
0266-4356/$ – see front matter © 2013 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.
http://dx.doi.org/10.1016/j.bjoms.2013.12.006
286
M. Gormley, C. Scully / British Journal of Oral and Maxillofacial Surgery 52 (2014) 285–287
Fig. 1. Round ulcers 2–3 mm in diameter on the right soft palate in a 60year-old white woman suffering from antisynthetase syndrome.
Fig. 3. Intraoral examination in the same patient as Fig. 2, showing mild hyposalivation and reduced whole unstimulated salivary flow.
Case 2
Discussion
A 55-year-old white woman had had xerostomia for about one year. She had no problems with speech or swallowing, no xerophthalmia, and the salivary and lacrimal glands were not swollen. She had no ocular symptoms or features of joint disease. Her medical history included Raynaud phenomenon, myositis, and pulmonary disease. She reported blanching of the fingers, pain, and ulceration. Extraoral examination showed Raynaud phenomenon and palmar warts (Fig. 2) but no dermatomyositis. Intraoral examination showed mild hyposalivation and reduced whole unstimulated salivary flow (Fig. 3). No other features were evident. Ultrasonography was consistent with Sjögren syndrome and she had anti Jo-1, SS-A (Ro) and SS-B (La) antibodies. She declined biopsy examination of the labial salivary gland and the condition was managed successfully with sugar-free chewing gum as a sialagogue, mouth wetting agents, and a referral for pneumatological care.
Antisynthetase syndrome is rare, and these cases are noteworthy as they suggest that the condition can have an oral aspect, notably aphthous-like ulceration and hyposalivation. The associated clinical manifestations vary. Features may include myositis, dermatomyositis, interstitial lung disease, Raynaud phenomenon, and mechanic’s hands. Myositis is the most common manifestation and leads to weakness, tenderness, pain, and ultimately to atrophy and fibrosis.4 Dermatomyositis with no skin findings (dermatomyositis sine dermatitis) can be mistakenly diagnosed as polymyositis, but accurate differentiation between the inflammatory myopathies is crucial as dermatomyositis has a high risk of associated malignancy. Case 1 seemed to be high on the spectrum of dermatomyositis but there was no evidence of this in case 2 despite the patient having Sjögren syndrome as an associated disease of the connective tissues.6 More than 60% of patients have interstitial lung disease. Persistent coughing, chest pain, diminished tolerance of exercise, dyspnoea at rest, or even respiratory failure may occur. Pulmonary function tests and chest radiography aid diagnosis.4 Raynaud phenomenon causes discolouration of the fingers and toes, and occasionally causes severe pain, functional disability, and digital infarction.7 Mechanic’s hands show as cracking and fissuring on the radial side of the digits and the palms.4,8 The diagnosis may be confirmed by the presence of aminoacyl tRNA synthetase antibodies. Antisynthetase syndrome is a rare condition that may manifest aphthous-like oral ulceration or hyposalivation. Viral disorders such as HIV infection and hepatitis C may also have similar symptoms.4
Conflict of interest statement Fig. 2. Palmar warts in a 55-year-old white woman with antisynthetase syndrome.
No conflict of interest.
M. Gormley, C. Scully / British Journal of Oral and Maxillofacial Surgery 52 (2014) 285–287
References 1. Marguerie C, Bunn CC, Beynon HL, et al. Polymyositis, pulmonary fibrosis and autoantibodies to aminoacyl-tRNA synthetase enzymes. Q J Med 1990;77:1019–38. 2. Thickett DR, Millar AB. Drug-induced antisynthetase syndrome. Postgrad Med J 1997;73:165–6. 3. Hervier B, Lambert M, Hachulla E, et al. Anti-synthetase syndrome positive for anti-isoleucyl-tRNA synthetase antibodies: an unusual case overlapping with systemic sclerosis and Sjögren’s syndrome. Rheumatology (Oxf) 2011;50:1175–6. 4. Tzioufas AG. Antisynthetase syndrome. Orphanet encyclopedia. Available from: http://www.orpha.net/data/patho/GB/uk-antisynthetase.pdf [cited November 2001].
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5. Scully C. Clinical practice. Aphthous ulceration. N Engl J Med 2006;355:165–72. 6. Vembu K, Lavingia J, Mankad J. Dermatomyositis sine dermatitis with antisynthetase syndrome. Medical College of Wisconsin. Available http://www.acponline.org/about acp/chapters/wi/12mtg/vembu. from: pdf 7. Smith CR, Rodeheffer RJ. Raynaud’s phenomenon: pathophysiologic features and treatment with calcium-channel blockers. Am J Cardiol 1985;55:154B–7B. 8. Taggart AJ, Finch MB, Courtney PA, et al. Anti Jo-I myositis: mechanic’s hands” and interstitial lung disease. Ulster Med J 2002;71: 68–71.
British Journal of Oral and Maxillofacial Surgery 52 (2014) 285–287
Short communication
Antisynthetase syndrome: two cases presenting orofacial manifestations M. Gormley ∗ , C. Scully Edinburgh Dental Institute, Lauriston Building, Lauriston Place, Edinburgh, Scotland, UK Accepted 7 December 2013 Available online 27 December 2013
Abstract Antisynthetase syndrome is a rare autoimmune disease that is characterised by inflammatory myositis, and interstitial lung disease or chronic arthropathy, or both. To the best of our knowledge, orofacial manifestations have not previously been reported. We present 2 patients with orofacial disease: one with aphthous-like oral ulceration and the other with hyposalivation. © 2013 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved. Keywords: Antisynthetase syndrome mouth ulcers; Dry mouth; Raynaud phenomenon
Introduction The pathogenesis of antisynthetase syndrome is an autoantibody response that is directed against aminoacyl tRNA synthetases, enzymes vital to protein synthesis. In particular, patients often have histidyl-tRNA synthetase antibodies (anti-Jo-1 antibodies). To the best of our knowledge, orofacial manifestations have not previously been described despite the fact that the condition was first reported almost 25 years ago. Myositis is usually treated with glucocorticoids and azathioprine, methotrexate, ciclosporin, or mycophenolate mofetil.1–4
Case reports Case 1 A 60-year-old white woman had recently had an onset of mouth ulcers that affected the gingiva, buccal mucosa, and ∗ Corresponding author. Tel.: +44 0131 536 4416/4964; fax: +44 0131 536 4971. E-mail addresses: [email protected], [email protected] (M. Gormley).
ventral tongue. She had first noticed ulcers about 5 years previously but the condition had deteriorated over the past 6 months. The ulcers lasted about 10 days and were typically less than 1 cm in diameter. Her medical history included antisynthetase syndrome and Raynaud phenomenon, and she had Jo-1 antibodies. She had some reduction in lung function, together with synovitis, bursitis, and tendonitis, as well as recurrent herpes labialis. She had had a deep venous thrombosis, which was treated with warfarin, and previous blepharitis and occasional skin rashes. Her drug history included mycophenolate mofetil 500 mg 5 times a day for antisynthetase syndrome, and she had allergies to penicillin and erythromycin. Extraoral examination showed a healing lesion of recurrent herpes labialis, Raynaud phenomenon, and mechanic’s hands. Intraoral examination showed small round ulcers 2–3 mm in diameter with a clearly defined margin, a floor of yellowish-grey slough, and an erythematous periphery, on the lower labial mucosa, right soft palate, and left lateral border of the tongue (Fig. 1). The history and clinical findings were consistent with a diagnosis of aphthous-like ulceration.5 The ulcers were possibly part of the spectrum of antisynthetase syndrome. To control them she was prescribed mycophenolate mofetil, and betamethasone mouthwash was prescribed for more severe episodes.
0266-4356/$ – see front matter © 2013 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.
http://dx.doi.org/10.1016/j.bjoms.2013.12.006
286
M. Gormley, C. Scully / British Journal of Oral and Maxillofacial Surgery 52 (2014) 285–287
Fig. 1. Round ulcers 2–3 mm in diameter on the right soft palate in a 60year-old white woman suffering from antisynthetase syndrome.
Fig. 3. Intraoral examination in the same patient as Fig. 2, showing mild hyposalivation and reduced whole unstimulated salivary flow.
Case 2
Discussion
A 55-year-old white woman had had xerostomia for about one year. She had no problems with speech or swallowing, no xerophthalmia, and the salivary and lacrimal glands were not swollen. She had no ocular symptoms or features of joint disease. Her medical history included Raynaud phenomenon, myositis, and pulmonary disease. She reported blanching of the fingers, pain, and ulceration. Extraoral examination showed Raynaud phenomenon and palmar warts (Fig. 2) but no dermatomyositis. Intraoral examination showed mild hyposalivation and reduced whole unstimulated salivary flow (Fig. 3). No other features were evident. Ultrasonography was consistent with Sjögren syndrome and she had anti Jo-1, SS-A (Ro) and SS-B (La) antibodies. She declined biopsy examination of the labial salivary gland and the condition was managed successfully with sugar-free chewing gum as a sialagogue, mouth wetting agents, and a referral for pneumatological care.
Antisynthetase syndrome is rare, and these cases are noteworthy as they suggest that the condition can have an oral aspect, notably aphthous-like ulceration and hyposalivation. The associated clinical manifestations vary. Features may include myositis, dermatomyositis, interstitial lung disease, Raynaud phenomenon, and mechanic’s hands. Myositis is the most common manifestation and leads to weakness, tenderness, pain, and ultimately to atrophy and fibrosis.4 Dermatomyositis with no skin findings (dermatomyositis sine dermatitis) can be mistakenly diagnosed as polymyositis, but accurate differentiation between the inflammatory myopathies is crucial as dermatomyositis has a high risk of associated malignancy. Case 1 seemed to be high on the spectrum of dermatomyositis but there was no evidence of this in case 2 despite the patient having Sjögren syndrome as an associated disease of the connective tissues.6 More than 60% of patients have interstitial lung disease. Persistent coughing, chest pain, diminished tolerance of exercise, dyspnoea at rest, or even respiratory failure may occur. Pulmonary function tests and chest radiography aid diagnosis.4 Raynaud phenomenon causes discolouration of the fingers and toes, and occasionally causes severe pain, functional disability, and digital infarction.7 Mechanic’s hands show as cracking and fissuring on the radial side of the digits and the palms.4,8 The diagnosis may be confirmed by the presence of aminoacyl tRNA synthetase antibodies. Antisynthetase syndrome is a rare condition that may manifest aphthous-like oral ulceration or hyposalivation. Viral disorders such as HIV infection and hepatitis C may also have similar symptoms.4
Conflict of interest statement Fig. 2. Palmar warts in a 55-year-old white woman with antisynthetase syndrome.
No conflict of interest.
M. Gormley, C. Scully / British Journal of Oral and Maxillofacial Surgery 52 (2014) 285–287
References 1. Marguerie C, Bunn CC, Beynon HL, et al. Polymyositis, pulmonary fibrosis and autoantibodies to aminoacyl-tRNA synthetase enzymes. Q J Med 1990;77:1019–38. 2. Thickett DR, Millar AB. Drug-induced antisynthetase syndrome. Postgrad Med J 1997;73:165–6. 3. Hervier B, Lambert M, Hachulla E, et al. Anti-synthetase syndrome positive for anti-isoleucyl-tRNA synthetase antibodies: an unusual case overlapping with systemic sclerosis and Sjögren’s syndrome. Rheumatology (Oxf) 2011;50:1175–6. 4. Tzioufas AG. Antisynthetase syndrome. Orphanet encyclopedia. Available from: http://www.orpha.net/data/patho/GB/uk-antisynthetase.pdf [cited November 2001].
287
5. Scully C. Clinical practice. Aphthous ulceration. N Engl J Med 2006;355:165–72. 6. Vembu K, Lavingia J, Mankad J. Dermatomyositis sine dermatitis with antisynthetase syndrome. Medical College of Wisconsin. Available http://www.acponline.org/about acp/chapters/wi/12mtg/vembu. from: pdf 7. Smith CR, Rodeheffer RJ. Raynaud’s phenomenon: pathophysiologic features and treatment with calcium-channel blockers. Am J Cardiol 1985;55:154B–7B. 8. Taggart AJ, Finch MB, Courtney PA, et al. Anti Jo-I myositis: mechanic’s hands” and interstitial lung disease. Ulster Med J 2002;71: 68–71.
