Undifferentiated Connective-Tissue Disease Clinical Presentation

Updated: Jun 15, 2021
  • Author: Bernard Hildebrand, MD, MA; Chief Editor: Herbert S Diamond, MD  more...
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Patients with undifferentiated connective-tissue disease (UCTD) may present with various signs and symptoms. The most common manifestations at presentation include the following [15, 19, 36, 45, 46] :

  • 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%)
  • Central nervous system (CNS) symptoms (8.5%)

The proposed classification criteria for UCTD [14] include any sign or symptom that may be included in the classification criteria of systemic lupus erythematosus (SLE), mixed CTD (MCTD), systemic sclerosis (SSc), polymyositis/dermatomyositis (PM/DM), rheumatoid arthritis (RA), and Sjögren syndrome (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



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