SH3BP2 deficiency with multiocular cystic disease of the mandibles (SDCM), aka Cherubism,

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Acronym:
SDCM, aka Cherubism

SAID group:
Increased Immune Cell Receptor Signaling

Gene:
SH3BP2

Inheritance:
Autosomal dominant.

Ethnicity:
Not noted.

Frequency:
Unknown-rare. Affects more males than females. [114]

Timing of symptoms:
Continuous and increasing jaw growth (usually painless) during early childhood. [114]

Age of onset:
Onset of persistent and increasing jawbone growth between 14 months to 3 years of age. Most have slower growth of the jaw by 5 years of age, and the process halts by 12-15 years of age, and the bone changes resolve in adulthood. [114]

Skin cutaneous:
No rashes or symptoms affecting the skin noted. Cherubism may be seen in some other conditions, such as neurofibromatosis that are associated with some skin findings. [114]

Neurologic:
No characteristic symptoms from Cherubism itself, but cherubism may also present in other syndromes, such as Ramon or Noonan syndrome that may have CNS symptoms. [114]

Auditory:
Rare. A few extreme cases of deformed jaw growth affecting the ear region, which can impact hearing. [114]

Ophthalamic:
"Eyes to heaven" turned up eyes showing the sclera below the iris in some patients. A few cases with orbital bone involvement which can affect vision. [114]

Cardiopulmonary:
A few cases with obstructive sleep apnea, or gingival fibromatosis. [114] Extreme cases of jaw enlargement may cause dental issues . [114] If presenting with Noonan synrome, cardiac defects may be noted. [113]

Abdominal:
Not noted to be caused by cherubism. [113] [114]

Lymphatic:
Cervical lymphadenopathy. [113] [114]

Joints bones muscles cartilage:
Onset in early childhood-increased jaw size leading to a "puffy or chubby cheek" appearance due to painless mandible and maxilla enlargement from cysts with fibrous dysplasia. Jaw growth stabilizes during puberty, and facial features improve and are normal in most adults with the disease. [113] Can affect the development of the teeth. Alveolar cavity damage can displace the teeth, and dental x-rays may appear as "floating teeth syndrome". [114] Rarely affects long bones. [115] X-ray: bilateral multilocular radioleucent areas. Histopathology: fibrous connective tissue with large numbers of multinucleated giant cells in the background. [114]

Vasculitis:
Not noted. [113] [114]

Amyloidosis:
Not noted. [113] [114]

Abnormal labs:
CRP, ESR may be normal or slightly elevated. REF#115

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