Gardner's syndrome: Genetic testing and colonoscopy are indicated in adolescents and young adults with cranial osteomas: A case report

Abstract

We present a case of a 25-year-old female with diagnosed familial adenomatous polyposis and elevated carcinoembryonic antigen with negative family history. The suspicion of Gardner's syndrome was raised because extirpation of an osteoma of the left temporo-occipital region was made 10 years ago. Restorative proctocolectomy and ileal pouch anal anastomosis was made but histology delineated adenocarcinoma of the rectum (Dukes C stage). We conclude that cranial osteomas often precede gastrointestinal manifestations of familial adenomatous polyposis or Gardner's syndrome and such patients should be evaluated with genetic testing followed by colonoscopy if results are positive to prevent the development of colorectal carcinoma. If the diagnosis is positive all family members should be evaluated for familial adenomatous polyposis.

Mastoid osteoma

“…[1] The osteomas are usually present in paranasal sinuses, skull and temporal bone, including external and internal auditory meatus, middle ear, apex of the petrous part and styloid process with mastoid being the rare site for presentation of osteoma with incidence of 0.1-1% of all head and neck benign tumors. [3][4][5] It is more common in females predominantly occurring in second and third decades. [6] The osteoma is a benign tumor usually arising from cortex as it is of mesenchymal origin.…”

“…[1][2][3][4] Only 150 cases have been reported in literature in 2010. [2] Patients mostly being asymptomatic present later in the course of disease with a tumor like hard mass located in the postauricular region, which is usually painless and might cause cosmetic disfiguration.…”

Mandibuläres Osteom bei Gardner-Syndrom

“…Während ein solitäres Osteom auf dem OPT, wie im vorliegenden Fall, ein häufiger Zufallsbefund ist, stellt sich bei 3 und mehr solcher Tumoren der dringliche Verdacht auf das Vorliegen eines GS [5]. In seltenen Fällen kann ein solitäres Osteom der einzige klinische Hinweis auf ein zugrunde liegendes GS sein [9]. Da Osteome häufig als initiales Symptom auftreten, sollte bei Diagnose dieses Tumors das GS immer in differenzialdiagnostische Überlegungen einbezogen werden [9].…”

“…In seltenen Fällen kann ein solitäres Osteom der einzige klinische Hinweis auf ein zugrunde liegendes GS sein [9]. Da Osteome häufig als initiales Symptom auftreten, sollte bei Diagnose dieses Tumors das GS immer in differenzialdiagnostische Überlegungen einbezogen werden [9].…”

Câncer ano-reto-cólico: aspectos atuais II - câncer colorretal - fatores de riscos e prevenção

“…74 Depois que os pólipos são formados, o passo seguinte é sua malignação -o fenômeno que permite essa transformação é genético e a chave esta na mutação ou inativação do APC, mas o mecanismo é idên-tico ao que ocorre na seqüência adenoma(pólipo)-cân-cer, no câncer esporádico. 57 A incidência mundial da FAP é mais ou menos constante e semelhante aos registros americanos variando de 1/8300 a 1/14025 nacidos vivos, afetando igualmente ambos os sexos e com distribuição homogênea na espécie humana 75,76 . Entre as famílias com FAP podem ser encontrado até 8% das "famílias" com a forma atenuada da polipose familiar (FAPA) com mutações APC ou MUTYH (em um ou nos dois alelos).…”