Cherubism: Difference between revisions

Revision as of 14:11, 21 February 2025

Cherubism

Cherubism is a rare genetic disorder that affects the bones of the face, particularly the jawbones. It is characterized by painless, progressive swelling of the cheeks and jaw, giving the affected individuals a cherubic appearance, hence the name.

Etiology

Cherubism is caused by mutations in the SH3BP2 gene, which is located on chromosome 4. This gene is responsible for producing a protein involved in the regulation of bone metabolism. The mutation leads to abnormal bone remodeling, resulting in the characteristic facial features of the disorder.

Clinical Features

The primary clinical feature of cherubism is bilateral swelling of the cheeks due to the overgrowth of the jawbones. This typically becomes apparent in early childhood, around the age of 2 to 7 years. The condition progresses until puberty, after which it often stabilizes or regresses.

Other features may include:

Dental abnormalities, such as malocclusion, displacement of teeth, and delayed eruption.
Ocular issues, such as upward displacement of the eyes, giving a "heavenward gaze" appearance.
In some cases, hearing loss due to involvement of the bones surrounding the ear.

Pathophysiology

The pathophysiology of cherubism involves the replacement of normal bone with fibrous tissue and cyst-like structures. This process is driven by the abnormal activity of osteoclasts and osteoblasts, which are cells responsible for bone resorption and formation, respectively.

Diagnosis

Diagnosis of cherubism is primarily clinical, based on the characteristic facial appearance and family history. Radiographic imaging of the jaws reveals multilocular radiolucencies, often described as "soap bubble" or "honeycomb" appearances. Genetic testing can confirm the diagnosis by identifying mutations in the SH3BP2 gene.

Management

Management of cherubism is largely supportive and symptomatic. Regular dental care is essential to address dental issues. In some cases, surgical intervention may be necessary to correct severe deformities or functional impairments. The condition often stabilizes or improves after puberty, reducing the need for aggressive treatment.

Prognosis

The prognosis for individuals with cherubism is generally good. The facial swelling often regresses after puberty, and many individuals experience significant improvement in appearance. However, dental and skeletal issues may persist and require ongoing management.

Related pages

File:Robert Z'dar.png

Actor Robert Z'Dar, known for his prominent jawline, had cherubism.

@@ Line 1: / Line 1: @@
-{{Short description|A rare genetic disorder affecting the jaw and facial bones}}
+Cherubism
-'''Cherubism''' is a rare genetic disorder characterized by abnormal bone tissue in the lower part of the face, particularly the jaw and cheekbones. This condition is named for the "cherubic" appearance it imparts to affected individuals, due to the swelling of the cheeks and jaw.
-==Presentation==
+[[File:Cherubism2.jpg|thumb|right|A child with cherubism, showing characteristic facial swelling.]]
-Cherubism typically manifests in early childhood, often between the ages of 2 and 7. The primary feature of cherubism is the painless, symmetrical swelling of the jaw and cheeks. This swelling is due to the replacement of normal bone with fibrous tissue, leading to the characteristic facial appearance.
-As the child grows, the swelling may become more pronounced, but it often stabilizes or regresses after puberty. In some cases, the condition can lead to dental abnormalities, such as misalignment of teeth, delayed eruption, or missing teeth.
+'''Cherubism''' is a rare genetic disorder that affects the bones of the face, particularly the jawbones. It is characterized by painless, progressive swelling of the cheeks and jaw, giving the affected individuals a cherubic appearance, hence the name.
-==Genetics==
+==Etiology==
-Cherubism is inherited in an [[autosomal dominant]] pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The condition is associated with mutations in the [[SH3BP2]] gene, which plays a role in bone remodeling and immune system function.
+Cherubism is caused by mutations in the [[SH3BP2]] gene, which is located on chromosome 4. This gene is responsible for producing a protein involved in the regulation of bone metabolism. The mutation leads to abnormal bone remodeling, resulting in the characteristic facial features of the disorder.
+==Clinical Features==
+The primary clinical feature of cherubism is bilateral swelling of the cheeks due to the overgrowth of the jawbones. This typically becomes apparent in early childhood, around the age of 2 to 7 years. The condition progresses until puberty, after which it often stabilizes or regresses.
+Other features may include:
+* [[Dental abnormalities]], such as malocclusion, displacement of teeth, and delayed eruption.
+* [[Ocular]] issues, such as upward displacement of the eyes, giving a "heavenward gaze" appearance.
+* In some cases, [[hearing loss]] due to involvement of the bones surrounding the ear.
 ==Pathophysiology==
-The pathophysiology of cherubism involves the replacement of normal bone with fibrous tissue, leading to the formation of cyst-like lesions in the jaw. These lesions are filled with multinucleated giant cells and fibrous stroma. The exact mechanism by which mutations in the SH3BP2 gene lead to these changes is not fully understood, but it is believed to involve dysregulation of osteoclast activity and inflammatory pathways.
+The pathophysiology of cherubism involves the replacement of normal bone with fibrous tissue and cyst-like structures. This process is driven by the abnormal activity of osteoclasts and osteoblasts, which are cells responsible for bone resorption and formation, respectively.
 ==Diagnosis==
-Diagnosis of cherubism is typically based on clinical examination and radiographic findings. X-rays or CT scans of the jaw reveal characteristic "soap bubble" or multilocular radiolucencies. Genetic testing can confirm the diagnosis by identifying mutations in the SH3BP2 gene.
+Diagnosis of cherubism is primarily clinical, based on the characteristic facial appearance and family history. [[Radiographic imaging]] of the jaws reveals multilocular radiolucencies, often described as "soap bubble" or "honeycomb" appearances. Genetic testing can confirm the diagnosis by identifying mutations in the SH3BP2 gene.
 ==Management==
-Management of cherubism is primarily supportive and focuses on monitoring the progression of the condition. In many cases, no treatment is necessary, as the condition often stabilizes or improves after puberty. However, surgical intervention may be considered in severe cases to correct facial deformities or address functional issues such as dental malocclusion.
+Management of cherubism is largely supportive and symptomatic. Regular dental care is essential to address dental issues. In some cases, surgical intervention may be necessary to correct severe deformities or functional impairments. The condition often stabilizes or improves after puberty, reducing the need for aggressive treatment.
 ==Prognosis==
-The prognosis for individuals with cherubism is generally good, as the condition often stabilizes or regresses with age. Most individuals lead normal lives, although they may experience some degree of facial disfigurement or dental issues.
+The prognosis for individuals with cherubism is generally good. The facial swelling often regresses after puberty, and many individuals experience significant improvement in appearance. However, dental and skeletal issues may persist and require ongoing management.
 ==Related pages==
 * [[Fibrous dysplasia]]
-* [[Osteogenesis imperfecta]]
+* [[Genetic disorders]]
-* [[Paget's disease of bone]]
+* [[Osteoclast]]
+* [[Osteoblast]]
+[[File:Robert_Z'dar.png|thumb|left|Actor Robert Z'Dar, known for his prominent jawline, had cherubism.]]
+{{Genetic disorders}}
 [[Category:Genetic disorders]]
 [[Category:Rare diseases]]
-[[Category:Dental conditions]]
-== Cherubism ==
-<gallery>
-File:Robert Z'dar.png|Robert Z'dar
-File:Cherubism2.jpg|Cherubism
-</gallery>