Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the temporary chubby-cheeked resemblance to putti, the chubby-faced infants featured in Renaissance paintings, which were often mistakenly described as cherubs.
Causes. Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown. The SH3BP2 gene provides instructions for making a protein that plays a role in relaying chemical signals within cells.
The common symptoms of cherub syndrome are a wide jaw, swollen cheeks, missing teeth, upward turning eyes, and roundness in the cheek region. If a child is born with cherubism, they will not show any symptoms of the condition at birth. Symptoms will become noticeable, sometimes as early as age 2.
Cherubism is a disorder characterized by progressive, painless, bilateral swelling of the jaw. Diagnosis is based on a combination of clinical signs, family history, radiographic findings (panoramic x-rays, CT scan), biopsy, and genetic testing.
Treatment of cherubism consists of local curettage of the lesions, jaw contouring, intralesional steroid injections, and systemic calcitonin administration as well. Calcitonin therapy for central giant cell granuloma of the jaws is well documented, and favorable results have been achieved.
In most cases, the condition fades as the child grows, but in rare cases the condition continues to deform the affected person's face. Cherubism also causes premature loss of the primary teeth and lack of eruption and or displacement of the permanent teeth.
People with cherubism show no signs of it at birth. It starts to appear in early childhood, usually between the ages of 2 and 5 years. The tissue growths in the jaw grow rapidly until the child is about 7 or 8 years old. At that point, the tissue usually stops growing or grows more slowly for several years.
Clinically, cherubism is characterized by bilateral enlargement of the mandible and/or maxilla, causing a rounded face and swollen cheeks accompanied by upward-looking eyes.
Findings associated with cherubism range from clinically unrecognized features to severe mandibular and maxillary overgrowth with dental, orbital/ophthalmologic, respiratory, speech, and swallowing complications [Roginsky et al 2009].
Cherubism is an autosomal dominant inherited bone disease. Depending on the scope and severity of the lesion, clinical symptoms may range from no clinically or radiographical detectable features to unshapely deforming mandible or maxilla with respiratory embarrassment, impaired vision and hearing.
Prognosis. Most cases of cherubism regress spontaneously after puberty. Carvalho Silva and colleagues describe that the cherubism lesions in 7 of 8 of their patients stabilized by age 12 years and regressed thereafter [92]. One more severely affected patient showed features of cherubism at age 20.
Differential diagnosis includes Noonan-like syndrome, hyperparathyroidism-jaw tumor syndrome, fibrous dysplasia of bone (see these terms), brown tumor of hyperparathyroidism, and central giant-cell granuloma.
Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation. The disease may present in two distinct forms, a less severe and limited monostotic form, and a more aggressive and more widespread polyostotic form.
Pathology Clinic Cherubism. Cherubism is an autosomal-dominant inherited disease with variable expression. It is characterized by a progressive, painless, and symmetric expansion of the jaws. The disease is caused by a point mutation in the SH3BP2 gene (chromosome 4p16.
Individuals with milder forms of FD often live normal, otherwise healthy lives. The prognosis is as widely variable as the disorder itself, and is based on the bones affected, whether other structures such as nerves are affected, and whether fractures occur.
The median estimated lifespan of individuals with FOP is approximately 56 years of age.
Fibrous dysplasia is a chronic disorder in which scar-like tissue grows in place of normal bone. Any bone can be affected. Fibrous dysplasia usually occurs in children ages 3 to 15, but it sometimes is not diagnosed until adulthood.
Fibrous dysplasia is a tumor-like disorder of the bone caused by abnormal osteogenesis and its lesions generally stop growing when patients reach adulthood. However, malignant transformation should be considered when the growth of tumors or onset of pain is observed in adulthood [1,2].
Fibrous dysplasia (FD) is a relatively uncommon disorder that affects primarily the cranial region; its occurrence in the cranial base in combination with hindbrain herniation and aneurysmal bone cyst (ABC) constitutes an extremely rare condition.
Pregnancy is a rare event in FOP; however, it is possible for a woman with FOP to carry a child owing to the absence of smooth muscle involvement in this condition, and at least five known instances of childbirth have been reported in the medical literature, including two in this report.
The HO in FOP normally presents between birth and 26 years of age, with presentation in the first decade being the most common. There are a few case reports of patients presenting with FOP in their late forties, but age 54 is the oldest presentation reported in the literature to date [9].
It is very rare for areas of fibrous dysplasia to become malignant or cancerous. This occurs in less than 1% of patients and is more likely to happen in patients with the polyostotic form of the condition or in patients with McCune-Albright syndrome.
You or your child may see different health care professionals, depending on the location of the disease and the severity of the symptoms. Most people work with a team of doctors and medical professionals, which may include: Orthopaedists, who treat and perform surgery for bone and joint diseases.