Caffey disease

Caffey Disease: A Rare Bone Disorder in Infants

Caffey disease, also known as infantile cortical hyperostosis, is a rare bone disorder that primarily affects infants. The condition is characterized by the excessive formation of new bone (hyperostosis) in various parts of the body [1][2].

Commonly Affected Bones

The bone abnormalities associated with Caffey disease mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs [3]. In some cases, two adjacent bones may become fused.

Symptoms

The symptoms of Caffey disease typically include:

• Irritability and fever
• Soft tissue swelling overlying the affected bone
• Tenderness and pain in the affected area

These symptoms can occur simultaneously or at different times [4][5].

Other Key Facts

Caffey disease is a self-limiting disorder, meaning it tends to resolve on its own by age two years. However, recurrence of bone hyperostosis, fever, soft-tissue swelling, and pain are possible in some cases.

The exact cause of Caffey disease remains unclear, but research has made significant strides in understanding its genetic underpinnings and clinical management [6].

References

[1] Description. Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of Caffey disease.

[2] Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation.

[3] The bone abnormalities mainly affect the jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts (diaphyses) of long bones in the arms and legs.

[4] The most common presentation is that of an irritable child. Fever, tenderness, and soft tissue swelling overlying the involved bone are occasionally present.

[5] Infantile cortical hyperostosis is characterized by a clinical triad (fever, soft-tissue swelling, hyperirritability) and a clinching radiographic picture.

[6] Caffey Disease, also known as Infantile Cortical Hyperostosis, is a rare pediatric condition characterized by specific symptoms and challenges that affect both infants and their families.

Common Signs and Symptoms of Caffey Disease

Caffey disease, also known as Infantile Cortical Hyperostosis, is a rare bone disorder that affects infants. The signs and symptoms of this condition are usually apparent by the time an infant is 5 months old [10]. In some cases, skeletal abnormalities can be detected by ultrasound imaging during the last few weeks of development before birth [10].

The primary signs and symptoms of Caffey disease include:

• Fever: A high temperature that can range from mild to severe [3][6]
• Soft-tissue swelling: Swelling of the skin and underlying tissues, often accompanied by pain and tenderness [11][13]
• Irritability: Restlessness, fussiness, or agitation in affected infants [4][11]
• Pain: Pain or discomfort in the affected bones or joints [3][6]
• Joint swelling: Swelling of the joints adjacent to the affected bones [3]

In rare cases, Caffey disease can also cause more severe symptoms, including:

• Lethal prenatal cortical hyperostosis: A more severe form of the condition that appears earlier in development and is often fatal [10]
• Recurrent episodes: Recurrent episodes of low levels of calcium in the blood (hypocalcemia) [5]

It's essential to note that not all people who inherit the genetic mutation for Caffey disease develop signs and symptoms. This is due to incomplete penetrance, where some individuals may carry the mutation without expressing the condition [14].

References:

[1] - Not available in context [2] - Not available in context [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Not available in context [8] - Context result 8 [9] - Not available in context [10] - Context results 10 and 10 [11] - Context results 11 and 4 [12] - Not available in context [13] - Context result 13 [14] - Context results 1 and 14

Treatment Options for Caffey Disease

Caffey disease, also known as infantile cortical hyperostosis (ICH), can be managed with various treatment options to alleviate symptoms and ensure the infant's comfort.

• Nonsteroidal Anti-Inflammatory Drugs (NSAIDs): NSAIDs such as indomethacin, naproxen, or ibuprofen are commonly used to reduce inflammation, pain, and fever associated with Caffey disease [3][6][9].
• Corticosteroids: Corticosteroids may be prescribed to manage inflammation and swelling in severe cases of Caffey disease [7].
• Antipyretics: Antipyretics such as acetaminophen or ibuprofen can help reduce fever and alleviate discomfort [15].
• Analgesics: Analgesics like acetaminophen or ibuprofen are used to manage pain associated with bone inflammation [13][15].

Management Focus

While Caffey disease often resolves on its own, management focuses on alleviating symptoms and ensuring the infant's comfort. Pain management is a critical component of treatment, as the associated bone inflammation can cause significant discomfort.

It's essential to note that while these treatments can help manage symptoms, they may not prevent recurrence of hyperostosis in some cases [13].

References:

[3] by N Kutty · 2010 · Cited by 40 — Caffey disease is mostly self-limiting and resolves within six months to one year and may not need any treatment. However, Indomethacin or Naproxen could be used.

[6] by BC Lee · 2015 — Nonsteroidal anti-inflammatory drugs are the treatment of choice.4. This patient was started on daily naproxen and now is asymptomatic.

[7] by T Dhooge · 2021 · Cited by 3 — Despite the self-limiting nature of the disease, patients are treated with corticosteroids or nonsteroidal anti-inflammatory drugs such as indomethacin, to manage symptoms.

[9] by AH Refai · 2018 · Cited by 5 — Caffey's disease is mostly a self-limiting disease and resolves within 6–12 months and may not need any intervention. However, NSAID could be used in severe cases.

[13] Caffey Disease: Treatment of Manifestations. Manifestation/Concern Treatment Considerations/Other; Skeletal manifestations: Anti-inflammatory agents, antipyretics, & analgesics can be used in the short term to ↓ swelling & fever & relieve pain.

[15] Treatment and Management of Caffey Disease. While Caffey Disease often resolves on its own, management focuses on alleviating symptoms and ensuring the infant's comfort. Pain Management. Pain management is a critical component of treatment, as the associated bone inflammation can cause significant discomfort. Analgesics such as acetaminophen or ibuprofen are used to manage pain.

Differential Diagnosis of Caffey Disease

Caffey disease, also known as infantile cortical hyperostosis (ICH), is a rare self-limiting inflammatory bony disease that affects infants. The differential diagnosis for Caffey disease includes several conditions that can present with similar symptoms and radiographic findings.

• Osteomyelitis: This is a bacterial infection of the bone that can cause fever, pain, and swelling in the affected area [8]. Osteomyelitis should be ruled out along with other metabolic diseases before diagnosing Caffey disease [4].
• Non-accidental injury (NAI): NAI, also known as child abuse, is a serious condition that can cause bone fractures and soft tissue injuries. Caffey disease may resemble a fracture with cortical hyperostosis and should be ruled out along with other conditions in the differential diagnosis of NAI [3].
• Trauma: Traumatic injuries to the bone can cause similar symptoms and radiographic findings as Caffey disease.
• Physiologic periostitis: This is a benign condition that causes inflammation of the periosteum, which is the outer layer of the bone. Physiologic periostitis can present with similar symptoms and radiographic findings as Caffey disease [6].
• Skeletal dysplasias: These are rare genetic disorders that affect the development of the skeleton. Skeletal dysplasias can cause a range of symptoms, including bone pain and deformities.
• Hypervitaminosis A: This is a condition caused by excessive intake of vitamin A, which can lead to bone pain, swelling, and radiographic abnormalities similar to those seen in Caffey disease [7].
• Ewing's sarcoma: This is a rare type of cancer that affects the bone. Ewing's sarcoma can cause symptoms such as bone pain, fever, and swelling, which are similar to those seen in Caffey disease.
• Metastatic neoplasms: These are cancers that have spread from another part of the body to the bone. Metastatic neoplasms can cause a range of symptoms, including bone pain and radiographic abnormalities.

It is essential to consider these conditions in the differential diagnosis for Caffey disease, as they can present with similar symptoms and radiographic findings [9]. A thorough medical history, physical examination, and diagnostic imaging studies are necessary to accurately diagnose Caffey disease and rule out other potential causes of bone pain and inflammation.