Syn .: Familial polyposis of the large intestine, familial adenomatous polyposis.
Def .: Gardner’s syndrome is a variant of familial adenomatous polyposis characterized by the presence of skin lesions.
Epid .: It occurs in a family, without any gender predilection.
Etiol .: The development of the syndrome is associated with a mutation within the APC gene, which is located on the 5q21-q22 chromosome. The syndrome is inherited in an autosomal dominant fashion.
Loc .: Digestive tract, face, scalp.
Clinical: Skin changes in the course of Gardner’s syndrome are not very characteristic. These include epidermoid cysts located on the face, scalp and trunk, fibromas, skin desmoid tumors and subcutaneous tissue. Desmoid tumors often arise in wounds, are highly invasive, require radical surgical excision and chemotherapy. Despite a relatively mild histopathological image, desmoid tumors are clinically malignant, massive in size, and may occupy other vital organs located in the minor pelvis and abdomen, essential for the functioning. Moreover, there are osteomatic changes in the maxilla, mandible and in the bones of the skull. However, the most important clinical feature of Gardner’s syndrome is the presence of intestinal polyps, mainly of the large intestine and rectum, with a high risk of neoplastic transformation. It is believed that untreated lesions are 100% neoplastic. They are recognized by colonoscopy. Occasionally, some can be found higher in the digestive tract, even in the stomach. In some cases, the appearance of epithelial cysts precedes the development of bowel cancer. There is also an association between hepatoblastoma, a rare cancer in infants and children, and Gardner’s syndrome. Probably the first clinical symptom is the discoloration of the retina, unilateral or bilateral.
Hist .: Cystic skin lesions show histopathological features of pilomatrixoma.
DL: Laboratory and imaging tests for early detection of a malignant neoplasm.
DR: Other paraneoplastic syndromes, genetically determined, Oldfield’s syndrome, Turcot’s syndrome.
But: After the diagnosis is made, some authors recommend prophylactic colectomy and careful monitoring of other organs where polyps may be present. Recently, chronic use of non-steroidal anti-inflammatory drugs has been proposed to reduce the risk of malignant transformation of polyps. Skin lesions are surgically removed.
Year: Serious; patients require constant monitoring.
Lit.: [1] Lynch P.M.: Clinical challenges in management of familia adenomatous polyposis and hereditary nonpolyposis colorectal cancer. Cancer 1999, 86; 1713-19. [2] Braun-Falco O., Plewig G., Wolff H.H., Burgdorf W.H.C.: Dermatology. Berlin, Heidelberg, New York 2000.
Source: A. Kaszuba, Z. Adamski: “Lexicon of dermatology”; XNUMXst edition, Czelej Publishing House