Cryopyrin-associated periodic syndrome physical examination

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]

Physical examination of patients with the cryopyrin-associated periodic syndrome (CAPS) is usually remarkable for recurrent episodes of cold-induced fever, urticaria-like painful rash, and arthritis. Hearing loss, ophthalmologic involvement, and focal neurologic signs are more suggestive of NOMID.

• Physical examination of patients with the cryopyrin-associated periodic syndrome (CAPS) is usually remarkable for recurrent episodes of cold-induced fever, urticaria-like painful rash, and arthritis.^[1]
• The presence of Cold-induced urticarial rash on physical examination is highly suggestive of the cryopyrin-associated periodic syndrome (CAPS).
• The presence of a cold-induced urticarial rash on physical examination is more diagnostic of FCAS.

• Patients with the cryopyrin-associated periodic syndrome (CAPS) usually appear normal.

• High-grade fever
• Tachycardia with regular pulse due to the presence of fever
• Tachypnea

• Skin examination of patients with CAPS indicates the presence of a migratory maculopapular skin rash resembling urticaria.^[2]
• The rash is non-pruritic and usually cold-induced.
• Ice cube test is negative.

• Ophthalmoscopic exam may be abnormal with findings of conjunctivitis.^[2]
• Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) is especially accompanied by eye complications such as:
  • Conjunctivitis
  • Episcleritis
  • Corneal haze
  • Uveitis
  • Iritis
  • Papilledema
  • Retinal scarring
• High arched palate and middle ear effusion have also been reported.
• Hearing acuity may be reduced especially in NOMID.
• Frontal bossing of the forehead, saddleback nose are other possible findings in NOMID.

• Neck examination of patients with CAPS is suggestive of:^[3]
  • Lymphadenopathy

• Pulmonary examination of patients with cryopyrin-associated periodic syndrome is usually normal.

• Cardiovascular examination of patients with the cryopyrin-associated periodic syndrome is usually normal.

• Abdominal examination of patients with the cryopyrin-associated periodic syndrome is usually normal. However, it may be positive for splenomegaly and/or hepatomegaly.

• Back examination of patients with the cryopyrin-associated periodic syndrome is usually normal.

• Genitourinary examination of patients with the cryopyrin-associated periodic syndrome is usually normal.

• Neuromuscular examination of patients with the cryopyrin-associated periodic syndrome is suggestive of:^[4]
  • Signs of elevated intracranial pressure
  • Papilledema
• Developmental delay is especially diagnostic for NOMID.
• Neurologic examination of patients with NOMID may include focal neurologic signs due to CNS involvement.

• Extremities examination of patients with the cryopyrin-associated periodic syndrome is usually normal.
• However, stiffness and swelling may be observed in the affected joints.^[4][5]
• Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) may be associated with:
  • Deforming arthropathy affecting especially distal of femur and patella
  • Abnormal bony overgrowth of the knees
  • Contractures
  • Clubbing

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