Something not quite right: Gardner syndrome diagnosed by multiple cutaneous lesions and genetic testing

A rare case of Gardner syndrome in an African adult male: A case report

“…It is caused by truncating mutations of band 5q21‐q22 which produces a multidomain multifunctional protein involved in wnt signaling and microtubule function 15,21,22 . This mutation causes functional inactivation of the tumor suppressor activity of the adenomatous polyposis coli (APC) gene 15,21,23 …”

“… 15 , 21 , 22 This mutation causes functional inactivation of the tumor suppressor activity of the adenomatous polyposis coli (APC) gene. 15 , 21 , 23 …”

“…15,21,22 This mutation causes functional inactivation of the tumor suppressor activity of the adenomatous polyposis coli (APC) gene. 15,21,23 There are uncertainties about the exact breakpoint on the 5q and a study reported a variation from q13 to 31. 24 Over 1400 different mutations of this gene have been reported, and the specific area of the APC gene affected determines the extracolonic presentation as well as the number, time frame, and the malignant potential of the intestinal polyp.…”

Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts

“…Gardner syndrome is considered a phenotypic variant of familial adenomatous polyposis 12. Different mutations in the adenomatous polyposis coli gene have been shown to be associated with Gardner syndrome 34.…”

“…Different mutations in the adenomatous polyposis coli gene have been shown to be associated with Gardner syndrome 34. Gardner syndrome includes intestinal polyposis,1 multiple epidermoid cysts,5 osteomas,6 dental anomalies,4 and congenital hypertrophy of the retinal pigment epithelium 2. Chimenos-Küstner et al7 reported that approximately 50% of these patients presented with 3 or more osteomas in the maxillae as well as in other locations.…”