Familial megagnathia (Cherubism), also known as familial fibrous dysplasia of the jaw and familial polycystic jaw disease, is a benign, self-limiting disease
.

First reported by William A.

Cherubism , also known as familial fibrous dysplasia of the jaw and familial polycystic jaw disease, is a benign, self-limiting disease

Clinical manifestations: Clinical manifestations:

It is usually a painless enlargement of the bilateral jaws.
The lesions mainly invade the mandible, usually bilaterally, and are more common in the mandibular angle area.
The maxilla can also be invaded
.

Extensive maxillary lesions may involve the orbital floor and the orbital lateral wall, causing the eyeball to protrude, turn upwards and inversion, and expose the white sclera, which can cause diplopia and vision loss

It is usually a painless enlargement of the bilateral jaws.

Imaging appearance: Imaging appearance:

• The upper and lower jaws are multi-locular, low-density shadows of different sizes, with clear boundaries, irregular bone intervals, and swelling and thinning of the bone cortex, which can sometimes penetrate and be destroyed
  .

  
   
  

• Mandibular lesions are more common in the mandibular angle, but the condylar and coracoid processes are usually not invaded
  .
  

• When the maxilla is involved, the bone density is diffusely decreased, and the expansion to the maxillary sinus can make the sinus cavity smaller, and can invade the orbital floor upwards, causing the eyeball to be compressed
  .
  

• In the early and advanced stages of the disease, the X-ray features are mainly multilocular cystic shadows with sparse trabecular bone, most of which are clearly demarcated.
  May show uneven near-ground glass-like changes;

• After the age of 20, the lesions enter the repair stage, and the lesions may appear granular or completely filled with normal bone and disappear
  .
  

The upper and lower jaws are multi-locular, low-density shadows of different sizes, with clear boundaries, irregular bone intervals, and swelling and thinning of the bone cortex, which can sometimes penetrate and be destroyed
.

 

The upper and lower jaws are multi-locular, low-density shadows of different sizes, with clear boundaries, irregular bone intervals, and swelling and thinning of the bone cortex, which can sometimes penetrate and be destroyed
.

 

The upper and lower jaws are multi-locular, low-density shadows of different sizes, with clear boundaries, irregular bone intervals, and swelling and thinning of the bone cortex, which can sometimes penetrate and be destroyed

Mandibular lesions are more common in the mandibular angle, but the condylar and coracoid processes are usually not invaded
.

Mandibular lesions are more common in the mandibular angle, but the condylar and coracoid processes are usually not invaded
.

When the maxilla is involved, the bone density is diffusely decreased, and the expansion to the maxillary sinus can make the sinus cavity smaller, and can invade the orbital floor upwards, causing the eyeball to be compressed
.

When the maxilla is involved, the bone density is diffusely decreased, and the expansion to the maxillary sinus can make the sinus cavity smaller, and can invade the orbital floor upwards, causing the eyeball to be compressed
.

When the maxilla is involved, the bone density is diffusely decreased, and the expansion to the maxillary sinus can make the sinus cavity smaller, and can invade the orbital floor upwards, causing the eyeball to be compressed
.

In the early and advanced stages of the disease, the X-ray features are mainly multilocular cystic shadows with sparse trabecular bone, most of which are clearly demarcated.
May show uneven near-ground glass-like changes;

In the early and advanced stages of the disease, the X-ray features are mainly multilocular cystic shadows with sparse trabecular bone, most of which are clearly demarcated.
May show uneven near-ground glass-like changes;

In the early and advanced stages of the disease, the X-ray features are mainly multilocular cystic shadows with sparse trabecular bone, most of which are clearly demarcated.
May show uneven near-ground glass-like changes;

After the age of 20, the lesions enter the repair stage, and the lesions may appear granular or completely filled with normal bone and disappear
.

After the age of 20, the lesions enter the repair stage, and the lesions may appear granular or completely filled with normal bone and disappear
.

After the age of 20, the lesions enter the repair stage, and the lesions may appear granular or completely filled with normal bone and disappear
.

Case pictures:

Case pictures: Case pictures:

A.
Photograph of a 10 year old girl with bilateral cheek and jaw swelling.
Cherubism was confirmed with genetic testing that was positive for the SH3BP2 gene.
The patient had genetic counseling and was followed longitudinally.
B.
Patient one year later with no progression of facial swelling.
C.
CT scan at initial presentation showed typical bilateral lytic lesions in the mandible that remained unchanged at follow ups.

Case 2

Case 2

Case 3

Case 3

Case 4:

Case 4:

 

Here is http://radiopaedia.

org/articles/cherubism

Here is http://radiopaedia.
org/articles/cherubism

Cherubism  has historically been considered a variant of fibrous dysplasia, but in reality is likely a distinct entity.

 

Cherubism

Familial macrognathia was once thought to be a variant of fibrous dysplasia, but is actually more of a separate disorder
.

Familial macrognathia was once thought to be a variant of fibrous dysplasia, but is actually more of a separate disorder
.

familial macrognathia

Epidemiology Epidemiology

Cherubism is inherited as an autosomal dominant disorder of variable penetrance, with onset in early childhood (typically in the 3-4 years of age).
Interestingly penetrance is dependent on gender: 100% in males, 50-70% in females.
 

Familial macrognathia is an autosomal dominant disorder with onset in early childhood
(usually 3-4 years of age) .
Interestingly, penetrance is sex dependent: 100% in men and 50%-70% in women
.

Familial megagnathia is an autosomal dominant disorder of familial megagnathia with onset in early childhood (usually between 3 and 4 years of age) .
Interestingly, penetrance is sex dependent: 100% in men and 50%-70% in women .
child

Clinical presentationClinical symptoms

Clinical presentation is due to characteristic cosmetic changes in the face, consisting of:

• bilateral usually symmetric jaw fullness with slight upward turning of eyes

• bilateral expansile multiloculated cystic masses with symmetric involvement of mandible and maxilla

bilateral usually symmetric jaw fullness with slight upward turning of eyes

bilateral usually symmetric jaw fullness with slight upward turning of eyes

bilateral expansile multiloculated cystic masses with symmetric involvement of mandible and maxilla

bilateral expansile multiloculated cystic masses with symmetric involvement of mandible and maxilla

Additionally submandibular lymph node enlargement may also be present.
The teeth in the affected regions may be loose and tooth eruption delayed.

The clinical presentation varies according to the characteristic features of the face, which include:

The clinical presentation varies according to the characteristic features of the face, which include:

• Usually bilaterally symmetrical jaws, eyes slightly turned upward

• Bilateral expansive multilocular cystic mass with symmetrical involvement of the mandible and maxilla

Usually bilaterally symmetrical jaws, eyes slightly turned upward

Usually bilaterally symmetrical jaws, eyes slightly turned upward

Usually bilaterally symmetrical jaws, eyes slightly turned upward

Bilateral expansive multilocular cystic mass with symmetrical involvement of the mandible and maxilla

Bilateral expansive multilocular cystic mass with symmetrical involvement of the mandible and maxilla

Bilateral expansive multilocular cystic mass with symmetrical involvement of the mandible and maxilla

In addition, submandibular lymphadenopathy may be present, and teeth in the affected area may be loosened and tooth eruption may be delayed

In addition, submandibular lymphadenopathy may be present, and teeth in the affected area may be loosened and tooth eruption may be delayed

Pathology

Histological features are indistinguishable from a giant cell granuloma.

Histologically similar to giant cell granuloma
.

Histologically similar to giant cell granuloma
.

Radiographic features imaging performance

Radiographic features consists of lucent expanded regions within the maxilla and mandible, with soap-bubble appearance.
As the lesion ages it often becomes sclerotic and may reduce in size.

Imaging features include multiple expansive translucent opacities in the maxilla and mandible with soap-bubble-like changes
.
The lesions tend to harden and shrink in size with age
.

Imaging features include multiple expansive translucent opacities in the maxilla and mandible with soap-bubble-like changes
.
The lesions tend to harden and shrink in size with age
.

Treatment and prognosis

Despite the pronounced changes, the disease stabilises and often regresses without the need for treatment.

History and etymology

A  cherub  is a toddler or baby angel, often portrayed in art to have chubby cheeks and an upward gaze.
In fact, such a divine being is more accurately called a  putto , but in modern English usage the terms have become blurred, and patients with cherubism are implied to have a  cherub-like  facies.

cherub putto cherub -like leave a comment here