Letters
FLG-2 stop-gain mutations in African Americans 6-8 and Africans5 suggest decreased likelihoods for these mutations in AD risk specific to this ancestry. Future case-control studies specific to this health disparities group are warranted to more fully elucidate the genetics of AD. Ashley M. Quiggle, BA Zane A. Goodwin, BS Twinkal R. Marfatia, PhD Monique G. Kumar, MD Heather Ciliberto, MD Susan J. Bayliss, MD Cristina de Guzman Strong, PhD Author Affiliations: Center for Pharmacogenomics, Center for the Study of Itch, Division of Dermatology, Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri. Corresponding Author: Cristina de Guzman Strong, PhD, Center for Pharmacogenomics, Center for the Study of Itch, Division of Dermatology, Department of Internal Medicine, Washington University School of Medicine, 660 S Euclid Ave, Campus Box 8123, St Louis, MO 63110 ([email protected] .edu). Accepted for Publication: November 9, 2014. Published Online: January 7, 2015. doi:10.1001/jamadermatol.2014.4916. Author Contributions: Drs Bayliss and de Guzman Strong had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: Marfatia, de Guzman Strong. Acquisition, analysis, or interpretation of data: All authors. Drafting of the manuscript: Quiggle, Bayliss, de Guzman Strong. Critical revision of the manuscript for important intellectual content: Quiggle, Goodwin, Marfatia, Kumar, Ciliberto, de Guzman Strong. Statistical analysis: Goodwin, de Guzman Strong. Obtained funding: de Guzman Strong. Administrative, technical, or material support: All authors. Study supervision: Bayliss, de Guzman Strong. Conflict of Interest Disclosures: None reported. Funding/Support: This study was supported in part by a Dean’s Faculty Diversity Scholar Award (Washington University School of Medicine, Dr de Guzman Strong) and by National Institutes of Health grants T32 HG000045 (Mr Goodwin) and R00AR055948 (Dr de Guzman Strong). The Dean’s Faculty Diversity Funds provided the materials for the study. Role of the Sponsor: The sponsors had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
but no loss-of-function mutations in filaggrin. J Allergy Clin Immunol. 2014;133(1):280-2.e1, 2. 6. Margolis DJ, Gupta J, Apter AJ, et al. Exome sequencing of filaggrin and related genes in African-American children with atopic dermatitis. J Invest Dermatol. 2014;134(8):2272-2274. 7. Polcari I, Becker L, Stein SL, Smith MS, Paller AS. Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis. Pediatr Dermatol. 2014;31(4):489-492. 8. Margolis DJ, Gupta J, Apter AJ, et al. Filaggrin-2 variation is associated with more persistent atopic dermatitis in African American subjects. J Allergy Clin Immunol. 2014;133(3):784-789.
OBSERVATION
Amyopathic Dermatomyositis–Related Thrombophilia Pulmonary embolus (PE) and deep vein thrombosis (DVT) are manifestations of venous thromboembolism (VTE). Presence of autoimmune disease is a risk factor for the development of VTE. Autoimmune diseases with mucocutaneous involvement, such as systemic lupus erythematosus (SLE), dermatomyositis (DM), or Behçet syndrome, are strongly associated with VTE risk.1 Report of a Case | A man in his 40s presented to our clinic with a 3-month history of nail fold tenderness and fatigue. Examination revealed Gottron papules on the hands and proximal nail fold changes with capillary dropout and enlarged capillaries (Figure 1). Diffuse erythema was also noted on the scalp and elbows. There was no muscle weakness. Blood test results were negative for antinuclear antibody and showed normal creatinine kinase levels. A diagnosis of amyopathic DM was made. There was no evidence of an associated underlying malignant condition. The patient was treated with hydroxychloroquine and topical clobetasol. A D-dimer is a protein fragment resulting from fibrinolysis of a thrombus. Because elevated D-dimer levels may indicate vascular damage in the setting of inflammatory skin disease,2 we measured serial D-dimer levels: the initial level
Figure 1. Clinical Presentation of Amyopathic Dermatomyositis
Previous Presentation: This study was presented in part at the 73rd Annual Meeting of the Society of Investigative Dermatology; May 8 to 9, 2014; Albuquerque, New Mexico. Additional Contributions: Emily Beck, MD, Emily Gurnee, MD, Kara J. Gulewicz, MD, and Colleen Cotton, MD, Washington University School of Medicine, assisted with patient recruitment and were not compensated. 1. Shaw TE, Currie GP, Koudelka CW, Simpson EL. Eczema prevalence in the United States: data from the 2003 National Survey of Children’s Health. J Invest Dermatol. 2011;131(1):67-73. 2. Williams HC, Burney PG, Hay RJ, et al. The UK Working Party's Diagnostic Criteria for Atopic Dermatitis. I. derivation of a minimum set of discriminators for atopic dermatitis. Br J Dermatol. 1994;131(3):383-396. 3. Severity scoring of atopic dermatitis: the SCORAD index: Consensus Report of the European Task Force on Atopic Dermatitis. Dermatology. 1993;186(1):23-31. 4. Brown SJ, Kroboth K, Sandilands A, et al. Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol. 2012;132(1):98-104. 5. Thawer-Esmail F, Jakasa I, Todd G, et al. South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products jamadermatology.com
In the primary image, Gottron papules are apparent over the distal interphalangeal, proximal interphalangeal, and metacarpophalangeal joints. In the inset, periungual telangiectasia and capillary dropout can be seen as well.
(Reprinted) JAMA Dermatology May 2015 Volume 151, Number 5
Copyright 2015 American Medical Association. All rights reserved.
Downloaded From: http://archderm.jamanetwork.com/ by a BYU Harold B Lee Library User on 05/19/2015
559
Letters
Figure 2. D-Dimer Levels in a Patient With Amyopathic Dermatomyositis 1800
Thrombotic Events
1600
D-Dimer, µg/mL
1400 1200 1000 800 600
Normal D-Dimer
400 200 0 Baseline
1
2
3
4
5
Follow-up Time, mo
Therapy
Hydroxychloroquine, 400 mg/d, clobetasol ointment Methotrexate, 15 mg/wk Methotrexate, 25 mg/wk, prednisone, 5 mg/d, anticoagulant therapy
was 331 μg/mL (normal,
FLG-2 stop-gain mutations in African Americans 6-8 and Africans5 suggest decreased likelihoods for these mutations in AD risk specific to this ancestry. Future case-control studies specific to this health disparities group are warranted to more fully elucidate the genetics of AD. Ashley M. Quiggle, BA Zane A. Goodwin, BS Twinkal R. Marfatia, PhD Monique G. Kumar, MD Heather Ciliberto, MD Susan J. Bayliss, MD Cristina de Guzman Strong, PhD Author Affiliations: Center for Pharmacogenomics, Center for the Study of Itch, Division of Dermatology, Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri. Corresponding Author: Cristina de Guzman Strong, PhD, Center for Pharmacogenomics, Center for the Study of Itch, Division of Dermatology, Department of Internal Medicine, Washington University School of Medicine, 660 S Euclid Ave, Campus Box 8123, St Louis, MO 63110 ([email protected] .edu). Accepted for Publication: November 9, 2014. Published Online: January 7, 2015. doi:10.1001/jamadermatol.2014.4916. Author Contributions: Drs Bayliss and de Guzman Strong had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: Marfatia, de Guzman Strong. Acquisition, analysis, or interpretation of data: All authors. Drafting of the manuscript: Quiggle, Bayliss, de Guzman Strong. Critical revision of the manuscript for important intellectual content: Quiggle, Goodwin, Marfatia, Kumar, Ciliberto, de Guzman Strong. Statistical analysis: Goodwin, de Guzman Strong. Obtained funding: de Guzman Strong. Administrative, technical, or material support: All authors. Study supervision: Bayliss, de Guzman Strong. Conflict of Interest Disclosures: None reported. Funding/Support: This study was supported in part by a Dean’s Faculty Diversity Scholar Award (Washington University School of Medicine, Dr de Guzman Strong) and by National Institutes of Health grants T32 HG000045 (Mr Goodwin) and R00AR055948 (Dr de Guzman Strong). The Dean’s Faculty Diversity Funds provided the materials for the study. Role of the Sponsor: The sponsors had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
but no loss-of-function mutations in filaggrin. J Allergy Clin Immunol. 2014;133(1):280-2.e1, 2. 6. Margolis DJ, Gupta J, Apter AJ, et al. Exome sequencing of filaggrin and related genes in African-American children with atopic dermatitis. J Invest Dermatol. 2014;134(8):2272-2274. 7. Polcari I, Becker L, Stein SL, Smith MS, Paller AS. Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis. Pediatr Dermatol. 2014;31(4):489-492. 8. Margolis DJ, Gupta J, Apter AJ, et al. Filaggrin-2 variation is associated with more persistent atopic dermatitis in African American subjects. J Allergy Clin Immunol. 2014;133(3):784-789.
OBSERVATION
Amyopathic Dermatomyositis–Related Thrombophilia Pulmonary embolus (PE) and deep vein thrombosis (DVT) are manifestations of venous thromboembolism (VTE). Presence of autoimmune disease is a risk factor for the development of VTE. Autoimmune diseases with mucocutaneous involvement, such as systemic lupus erythematosus (SLE), dermatomyositis (DM), or Behçet syndrome, are strongly associated with VTE risk.1 Report of a Case | A man in his 40s presented to our clinic with a 3-month history of nail fold tenderness and fatigue. Examination revealed Gottron papules on the hands and proximal nail fold changes with capillary dropout and enlarged capillaries (Figure 1). Diffuse erythema was also noted on the scalp and elbows. There was no muscle weakness. Blood test results were negative for antinuclear antibody and showed normal creatinine kinase levels. A diagnosis of amyopathic DM was made. There was no evidence of an associated underlying malignant condition. The patient was treated with hydroxychloroquine and topical clobetasol. A D-dimer is a protein fragment resulting from fibrinolysis of a thrombus. Because elevated D-dimer levels may indicate vascular damage in the setting of inflammatory skin disease,2 we measured serial D-dimer levels: the initial level
Figure 1. Clinical Presentation of Amyopathic Dermatomyositis
Previous Presentation: This study was presented in part at the 73rd Annual Meeting of the Society of Investigative Dermatology; May 8 to 9, 2014; Albuquerque, New Mexico. Additional Contributions: Emily Beck, MD, Emily Gurnee, MD, Kara J. Gulewicz, MD, and Colleen Cotton, MD, Washington University School of Medicine, assisted with patient recruitment and were not compensated. 1. Shaw TE, Currie GP, Koudelka CW, Simpson EL. Eczema prevalence in the United States: data from the 2003 National Survey of Children’s Health. J Invest Dermatol. 2011;131(1):67-73. 2. Williams HC, Burney PG, Hay RJ, et al. The UK Working Party's Diagnostic Criteria for Atopic Dermatitis. I. derivation of a minimum set of discriminators for atopic dermatitis. Br J Dermatol. 1994;131(3):383-396. 3. Severity scoring of atopic dermatitis: the SCORAD index: Consensus Report of the European Task Force on Atopic Dermatitis. Dermatology. 1993;186(1):23-31. 4. Brown SJ, Kroboth K, Sandilands A, et al. Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol. 2012;132(1):98-104. 5. Thawer-Esmail F, Jakasa I, Todd G, et al. South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products jamadermatology.com
In the primary image, Gottron papules are apparent over the distal interphalangeal, proximal interphalangeal, and metacarpophalangeal joints. In the inset, periungual telangiectasia and capillary dropout can be seen as well.
(Reprinted) JAMA Dermatology May 2015 Volume 151, Number 5
Copyright 2015 American Medical Association. All rights reserved.
Downloaded From: http://archderm.jamanetwork.com/ by a BYU Harold B Lee Library User on 05/19/2015
559
Letters
Figure 2. D-Dimer Levels in a Patient With Amyopathic Dermatomyositis 1800
Thrombotic Events
1600
D-Dimer, µg/mL
1400 1200 1000 800 600
Normal D-Dimer
400 200 0 Baseline
1
2
3
4
5
Follow-up Time, mo
Therapy
Hydroxychloroquine, 400 mg/d, clobetasol ointment Methotrexate, 15 mg/wk Methotrexate, 25 mg/wk, prednisone, 5 mg/d, anticoagulant therapy
was 331 μg/mL (normal,
