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Disease Profile

Dermatomyositis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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ICD-10

M33.0 M33.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Adult dermatomyositis

Categories

Kidney and Urinary Diseases; Nervous System Diseases; Skin Diseases

Summary

Dermatomyositis is an autoimmune condition that causes skin changes and muscle weakness. Symptoms can include a red skin rash around the eyelids, red bumps around the joints, and muscle weakness in the arms and legs. Dermatomyositis is most common in adults between ages 40 and 60, or in children between ages 5 and 15. Muscle weakness gets worse over time and can lead to stiff joints and muscle wasting. The cause for dermatomyositis is unknown. Diagnosis is made through a clinical exam and microscopic examination of a piece of skin and muscle. Treatment is focused on managing the symptoms. Options include different medications, physical therapy, and exercise.[1][2][3][4]

Symptoms

The following list includes the most common signs and symptoms in people with dermatomyositis. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Signs and symptoms may include:[3][4]

  • A reddish-purple rash around the eyelids
  • Red or violet bumps that form on the outside joints of the hand (Gottron papules)
  • Red or violet bumps on the knees and elbows
  • Discolored skin on shoulders, neck, upper back (shawl sign)
  • Muscle weakness starting in the arms and/or legs
  • Joint pain

The symptoms of dermatomyositis may appear suddenly or develop gradually. The first symptom of dermatomyositis is a skin rash that may come before or with the muscle weakness. Other organs may be affected such as the lungs and digestive tract. The muscle weakness gets worse over time and can lead to rigid joints, pain, and muscle wasting.[4]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal eyelid morphology
Abnormality of the eyelid
Abnormality of the eyelids

[ more ]

0000492
Autoimmunity
Autoimmune disease
Autoimmune disorder

[ more ]

0002960
EMG abnormality
0003457
Erythema
0010783
Inflammatory myopathy
0009071
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Periorbital edema
0100539
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
30%-79% of people have these symptoms
Abnormal hair quantity
0011362
Abnormality of the nail
0001597
Acrocyanosis
Persistent blue color of hands, feet, or parts of face
0001063
Arthralgia
Joint pain
0002829
Arthritis
Joint inflammation
0001369
Chondrocalcinosis
Calcium deposits in joints
0000934
Diffuse reticular or finely nodular infiltrations
0002207
Dry skin
0000958
Fatigue
Tired
Tiredness

[ more ]

0012378
Muscular hypotonia
Low or weak muscle tone
0001252
Papule
0200034
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Pulmonary fibrosis
0002206
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Respiratory insufficiency
Respiratory impairment
0002093
Skin ulcer
Open skin sore
0200042
Weight loss
0001824
5%-29% of people have these symptoms
Abnormal eosinophil morphology
0001879
Aplasia/Hypoplasia of the skin
Absent/small skin
Absent/underdeveloped skin

[ more ]

0008065
Breast carcinoma
Breast cancer
0003002
Cellulitis
Bacterial infection of skin
Skin infection

[ more ]

0100658
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity

[ more ]

0000992
Dysphonia
Inability to produce voice sounds
0001618
Feeding difficulties in infancy
0008872
Fever
0001945
Gangrene
Death of body tissue due to lack of blood flow or infection
0100758
Gastrointestinal stroma tumor
0100723
Lung adenocarcinoma
0030078
Lymphoma
Cancer of lymphatic system
0002665
Myocardial infarction
Heart attack
0001658
Myocarditis
Inflammation of heart muscle
0012819
Pericarditis
Swelling or irritation of membrane around heart
0001701
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Sinus tachycardia
0011703
Telangiectasia of the skin
0100585
Vasculitis
Inflammation of blood vessel
0002633

Cause

The cause of this disorder is unknown. It is thought to be due to a combination of genetic and environmental factors.[3]

Diagnosis

Dermatomyositis is diagnosed through a clinical exam for specific signs and symptoms. A standard list of symptoms is available for dermatomyositis.[5] A skin and muscle biopsy may be done to get a small piece of tissue to examine under the microscope.[2][3]

Treatment

Treatment for dermatomyositis is focused on managing the symptoms. The standard treatment for dermatomyositis is a corticosteroid drug. Other options include immunosuppressant medications, physical therapy, and exercise. Many individuals with dermatomyositis may need a topical ointment for the skin rash.[1]

Specialists involved in the care of someone with dermatomyositis may include:

  • Dermatologist
  • Neurologist
  • Physical therapist
  • Orthopedist

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • MayoClinic.com provides information about dermatomyositis. Click on the link above to access this information.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Dermatomyositis. Click on the link to view a sample search on this topic.

          References

          1. Sasaki H, Kohsaka H. Current diagnosis and treatment of polymyositis and dermatomyositis. Mod Rheumatol. 2018; 28(6):913-921. https://pubmed.ncbi.nlm.nih.gov/29669460.
          2. Chu LL, Rohekar G. Dermatomyositis. CMAJ. 2019; 191(12):E340. https://pubmed.ncbi.nlm.nih.gov/30910882.
          3. Bogdanov I, Kazandjieva J, Darlenski R, Tsankov N. Dermatomyositis: Current concepts. Clin Dermatol. 2018; 36(4):450-458. https://pubmed.ncbi.nlm.nih.gov/30047429.
          4. Sena P, Gianatti A, Gambini D. Dermatomyositis: clinicopathological correlations. G Ital Dermatol Venereol. 2018; 153(2):256-264. https://pubmed.ncbi.nlm.nih.gov/29368856.
          5. Lundberg IE, Tjärnlund A, Bottai M, et al. 2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups [published correction appears in Ann Rheum Dis. 2018 Sep;77(9):e64]. Ann Rheum Dis. 2017; 76(12):1955-1964. https://pubmed.ncbi.nlm.nih.gov/29079590.
          6. Strowd LC, Jorizzo JL. Review of dermatomyositis: establishing the diagnosis and treatment algorithm. Jl of Derm Treatment. 2013; 24(6):418-421. https://pubmed.ncbi.nlm.nih.gov/22686682.

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