Undifferentiated Connective-Tissue Disease Clinical Presentation

  • Author: Bernard Hildebrand, MD; Chief Editor: Herbert S Diamond, MD   more...
 
Updated: Jan 19, 2012
 

History

Patients with undifferentiated connective-tissue disease (UCTD) may present with various symptoms. The most common symptoms at presentation include Raynaud phenomenon (48%-59%); arthralgia (37%-81%); arthritis (22%-71%); mucocutaneous symptoms such as photosensitivity, malar rash, alopecia, and oral ulcerations (23%-52%); fever (15%-23%); sicca symptoms (12%-42%); and CNS symptoms (8.5%).[11, 15, 29, 38, 39]

The proposed classification criteria for UCTD[10] include any sign or symptom that may be included in the classification criteria of SLE, MCTD, SSc, PM/DM, RA, and SS. The following incomplete list of symptoms may be noted in patients with UCTD and are included as criteria for the classification of UCTD:

  • Mucocutaneous - Malar rash, discoid rash, oral or nasopharyngeal ulcerations, digital skin pitting or loss of the digital pad tissue, skin tightening or thickening, photosensitivity, heliotrope rash, Gottron sign, Gottron papules, shawl sign, mechanic's hands
  • Eyes - Dry eyes
  • Salivary glands - Dry mouth or salivary gland enlargement
  • Lungs - Pleuritic chest pain
  • Heart - Pericarditis
  • Musculoskeletal - Erosive or nonerosive arthritis; muscle weakness of the limb-girdle, neck flexors, or muscles of mastication; history of myositis; swollen hands; acrosclerosis
  • Nervous system - History of seizures or psychosis
  • Vascular - Raynaud phenomenon
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Physical

Physical findings of UCTD may be localized or diffuse. The potential physical manifestations of UCTD are best described by organ systems, as follows:

  • Skin - Telangiectasias, purpura, petechiae, digital ulcers or scars, sclerodactyly, acrosclerosis, calcinosis, malar rash, discoid rash, erythema nodosum, scaly/erythematous extensor surfaces (eg, dorsum of the hands, metacarpophalangeal joints, proximal interphalangeal joints, knees, elbows, medial malleoli), periungual erythema, dilated or irregular nailfold capillaries, digital cracking or fissuring (mechanic's hands), alopecia, lilac discoloration of the eyelids with periorbital edema (heliotrope rash), subcutaneous nodules
  • Eye - Conjunctivitis, scleral-episcleral disease, uveitis, iritis, or keratoconjunctiva sicca
  • Salivary glands - Xerostomia or salivary gland enlargement
  • Reticuloendothelial - Lymphadenopathy or splenomegaly
  • Lungs - Rales, wheezing, pleural effusion, or pleural rub
  • Heart - Enlarged heart, murmur, pericardial rub, dependent edema, irregular heartbeat, or abnormal P2 heart tone
  • Vascular - Acrocyanosis, absent pulses, arterial and/or venous thrombosis
  • Gastrointestinal - Hepatomegaly, abdominal tenderness
  • Genitalia - Ulcerations, rashes, or discharge
  • Muscles - Muscle tenderness, muscle atrophy, proximal muscle weakness, or tendon friction rubs
  • Joints - Joint tenderness, swelling, warmth, erythema, effusion, synovitis, or deformity
  • Nervous system - Mental status changes, psychosis, personality changes, signs of a cranial nerve palsy, peripheral motor neuropathy, sensory neuropathy, or entrapment neuropathy
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Contributor Information and Disclosures
Author

Bernard Hildebrand, MD  Chief of Rheumatology, Mike O'Callaghan Federal Hospital, Nellis Air Force Base

Bernard Hildebrand, MD is a member of the following medical societies: American College of Physicians, American College of Rheumatology, and American Society for Bioethics and Humanities

Disclosure: Nothing to disclose.

Coauthor(s)

Daniel F Battafarano, DO, FACP, FACR  Clinical Professor of Medicine, University of Texas Health Science Center at San Antonio; Associate Professor of Medicine, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Chief of Rheumatology Service, San Antonio Military Medical Center

Daniel F Battafarano, DO, FACP, FACR is a member of the following medical societies: American College of Physicians, American College of Rheumatology, and Association of Military Surgeons of the US

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Elliot Goldberg, MD  Dean of the Western Pennsylvania Clinical Campus, Professor, Department of Medicine, Temple University School of Medicine

Elliot Goldberg, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, and American College of Rheumatology

Disclosure: Nothing to disclose.

Alex J Mechaber, MD, FACP  Senior Associate Dean for Undergraduate Medical Education, Associate Professor of Medicine, University of Miami Miller School of Medicine

Alex J Mechaber, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, and Society of General Internal Medicine

Disclosure: Nothing to disclose.

Chief Editor

Herbert S Diamond, MD  Adjunct Professor of Medicine, Division of Rheumatology, University of Pittsburgh School of Medicine; Chairman Emeritus, Department of Internal Medicine, Western Pennsylvania Hospital

Herbert S Diamond, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, American College of Rheumatology, American Medical Association, and Phi Beta Kappa

Disclosure: Merck Ownership interest Other; Smith Kline Ownership interest Other; Zimmer Ownership interest Other

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Table 1. Preliminary Classification Criteria for Undifferentiated Connective-Tissue Disease
Inclusion CriteriaClinical



Exclusion Criteriaa



Laboratory Exclusion Criteriaa
1. Signs and symptoms suggestive of a CTD but not fulfilling the diagnostic or classification criteria for any of the defined CTDs b for at least 3 years c



2. Presence of antinuclear antibodies determined on two different occasions



Malar rash



Subacute cutaneous lupus



Discoid lupus



Cutaneous sclerosis



Heliotrope rash



Gottron papules



Erosive arthritis



Anti-dsDNA



Anti-Smith



Anti-U1-RNP



Anti-Scl70



Anticentromere



Anti-La/SSB



Anti-Jo1



Anti-Mi2



Table 2. Predictors of Progression to Definite Connective-Tissue Disease
Connective-Tissue Disease AssociationSigns or SymptomsLaboratory Data
Systemic lupus erythematosusAge, fever, photosensitivity, serositis, alopeciaANA, Anti-dsDNA, Anti-Smith, Anti-cardiolipin antibodies, Coombs positivity, leukopenia
Systemic sclerosisSclerodactyly, Raynaud phenomenon, sicca symptoms, esophageal dysfunctionANA with nucleolar pattern
Sjögren syndromeXerostomia, xerophthalmia, Raynaud phenomenonAnti-SSA, Anti-SSB
Rheumatoid arthritisSymmetric polyarthritisRF, elevated ESR (>70 mm/h)
Mixed connective-tissue diseaseEsophageal reflux, polyarthritis, Raynaud phenomenonANA, Anti-U1-RNP
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