should be suspected with the detection of osteoma in the craniofacial region.
is a multisystemic disease with multiple symptoms that are usually evident by the twentieth year of age; but, they may present anytime between 2 months and 70 years.
Capron, "Gardner's syndrome
and epidermoid cyst of the thymus," Gastroenterologie Clinique et Biologique, vol.
(9) Multiple carniofacial osteomas, along with cutaneous and soft-tissue tumors, can suggest a diagnosis of Gardner's syndrome
(2) (Figure 13).
Watne, "Gardner's syndrome
, colon cancer, and sarcoma," Journal of Surgical Oncology, vol.
Tumours associated with familial adenomatosis syndrome (Gardner's syndrome
)--risk is 10-30 % in these patients, which is further increased in mutations between exon 1310 and 2011
Diagnosing osteoma is therefore important and has a life saving potential because they can be the earliest presenting feature of Gardner's syndrome
. This case report not only describes the largest peripheral osteoma in the literature available till date, but also shows how disfiguring an unattended and neglected benign facial osseous lesion can turn.
In the vast majority of cases, pilomatricoma is a solitary neoplasm, however, multiple tumors occurring synchronously account for about 3.5% of reported cases.10 Multiple or recurring tumors may be found in association with different conditions10 which include Gardner's syndrome
, myotonic dystrophy, Rubinstein-Taybi syndrome, sarcoidosis, trisomy 9 and Turner's syndrome.
Slovis said some children with hereditary diseases--including ataxiatelangiectasia, basal cell nevus syndrome, Cockayne's syndrome, Down syndrome, Fanconi's anemia, Gardner's syndrome
, Nijmegen breakage syndrome, and Usher's syndrome--are extremely sensitive to radiation and should not be exposed at all, if possible.
Although pilomatricomas generally are isolated findings, they may be associated with systemic disorders such as Gardner's syndrome
, myotonic dystrophy, and sarcoidosis.
These include ataxiatelangiectasia, Gardner's syndrome
, and basal cell nevus syndrome.