Rare Medical News

Disease Profile

Undifferentiated connective tissue disease

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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Undifferentiated connective tissue syndrome; UCTD

Summary

Undifferentiated connective tissue disease (UCTD) is an autoimmune disease that can affect several systems in the body. Connective tissue disease (CTD) is classified as undifferentiated CTD when signs and symptoms are consistent with a CTD, but do not fulfill the diagnostic or classification criteria for one of the previously defined CTDs (for example, rheumatoid arthritis or lupus).[1] Symptoms of UCTD vary, but more common symptoms include Raynaud phenomenon, arthritis, joint pain, fever, and symptoms involving the mucous membranes and skin such as dryness in the eyes and mouth, ulcers in the mouth, sensitivity to sunlight (photosensitivity), or hair loss.[1] Various other symptoms may be present and may additionally involve the lungs, heart, muscles, or nervous system.[1]

The underlying cause of UCTD is unknown, but it is a type of autoimmune disease, which means that the immune system malfunctions and mistakenly attacks a person's own healthy tissues.[1] The diagnosis is made by ruling out other conditions that can cause the same symptoms, aided by blood and urine tests, and imaging studies such as X-ray, CT scan, or ultrasound.[1] Treatment usually includes the use of non-steroidal anti-inflammatory drugs (NSAIDs), antimalarial drugs, and/or corticosteroids.[1] People with photosensitivity may be helped by avoiding prolonged exposure to sunlight, and those with Raynaud phenomenon should avoid exposure to extremely cold temperatures.[1][2]

Symptoms

The symptoms of undifferentiated connective tissue disease may vary from person to person and may change over time.[1]

More common signs and symptoms include:[1][2]

  • Raynaud phenomenon (a condition in which the blood vessels do not bring enough blood to the hands and feet)
  • joint pain (arthralgia)
  • arthritis
  • symptoms involving the mucous membranes such as dryness in the eyes and mouth, or ulcers in the mouth
  • symptoms involving the skin, such as sensitivity to sunlight (photosensitivity), a rash on the cheeks (malar rash), or hair loss (alopecia)
  • fever

Many other signs and symptoms are possible and often overlap with those of well-defined connective tissue diseases such as lupus, mixed connective tissue disease, systemic sclerosis, rheumatoid arthritis, polymyositis, dermatomyositis, and Sjögren syndrome.[1] Symptoms of any of these that may occur in people with UCTD include but are not limited to:[1][2]

  • other symptoms involving the mucous membranes or skin
  • inflammation in the lungs and chest cavity, causing chest pain when breathing (pleuritic chest pain)
  • inflammation of tissues that surround the heart (pericarditis), which also causes chest pain
  • muscle weakness
  • nervous system symptoms such as abnormal sensations, seizures, or mental disorders
  • decreased number of white blood cells (leukopenia), red blood cells (anemia) or platelets (thrombocytopenia)

Cause

Undifferentiated connective tissue disease (UCTD) is type of autoimmune disease, which means that the immune system malfunctions and mistakenly "attacks" a person's own healthy tissues. However, like many autoimmune diseases, the reason a person develops UCTD is not known. Researchers suspect that both genes and environmental triggers interact to cause a person to develop UCTD.[2]

Treatment

Treatment for the symptoms of undifferentiated connective tissue (UCTD) disease typically involves the use of nonsteroidal anti-inflammatory drugs (such as naproxen or celecoxib), antimalarial drugs (such as hydroxychloroquine), and/or corticosteroids (such as prednisone). In people with severe signs and symptoms, drugs that suppress the immune system (immunosuppressants), such as methotrexate or azathioprine, may be recommended.[1]

A variety of other types of medications may be considered on an individual basis, such as calcium channel blockers for symptoms of Raynaud phenomenon. People with Raynaud phenomenon should also avoid exposure to very cold temperatures. Those with increased sensitivity to sunlight (photosensitivity) should try to minimize being exposed to sunlight for long periods of time. Wearing protective clothing and sunblock also helps protect against the effects of ultraviolet light.[1]

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.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

        References

        1. Hildebrand, B. Undifferentiated Connective-Tissue Disease. Medscape Reference. Medscape; January 24, 2018; https://emedicine.medscape.com/article/334482-overview.
        2. Berman JR. Undifferentiated Connective Tissue Disease In-Depth Overview. Hospital for Special Surgery. July 5, 2017; https://www.hss.edu/conditions_undifferentiated-connective-tissue-disease-overview.asp.
        3. Bortoluzzi A, Furini F, Campanaro F, Govoni M. Application of SLICC classification criteria in undifferentiated connective tissue disease and evolution in systemic lupus erythematosus: analysis of a large monocentric cohort with a long-term follow-up. Lupus. October 4, 2016; https://www.ncbi.nlm.nih.gov/pubmed/27703051.

        Rare Medical News

        fascinating Rare disease knowledge right in your inbox
        Subscribe to receive