Gardner's syndrome without polyposis?

Fuhrmann, Walter; Schnyder, U. W.; Kärcher, K. H.; Pfeifer, H

doi:10.1007/bf00286212

Cited by 5 publications

(2 citation statements)

References 8 publications

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“…Reports of unilateral lesions in 33% of controls and bilateral lesions in almost 5% [Traboulsi et al, 19871, if confirmed, would limit the possible usefulness of retinal exams in discovering undetected cases of FAP before they progress to malignancy. Moreover, the variability of expression documented by Traboulsi et al [ 19871 and the discrepancy in eye findings seen here in identical twins should serve as a caveat that, like other manifestations of the gene [Fuhrmann et al, 1967;Gorlin, 19681, pigmented fundus lesions in FAP are variably expressed.…”

Section: Discussionmentioning

confidence: 55%

Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis

Baker

Heinemann²,

Miller³

et al. 1988

Am. J. Med. Genet.

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Ophthalmic examinations were performed on 56 patients with validated familial adenomatous polyposis (FAP) for hyperpigmented defects of the retinal pigment epithelium. Such lesions were seen bilaterally in 29 patients (52%) and unilaterally in 8 patients (14%). Of the 56 patients, 33 had one or more of the extracolonic expressions associated with Gardner syndrome. We found retinal lesions in 8 patients without any of the expressions of Gardner syndrome. No association was found between Gardner syndrome and the retinal lesions when these patients were compared to patients without any stigmata of Gardner syndrome, nor was any significant association found when each of the expressions was compared individually with the presence of the pigmented retinal lesions. The presence or absence of eye findings were seen to cluster within families. There was no association with sex. Fundus lesions are apparently a variable expression of the FAP gene and are not specifically associated with Gardner syndrome.

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Section: Discussionmentioning

confidence: 55%

Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis

Baker

Heinemann²,

Miller³

et al. 1988

Am. J. Med. Genet.

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“…As in Peutz-Jeghers syndrome, there is no correlation between the skin manifestations and the severity of the polyposis. Cases without polyposis are probable (37).…”

Section: Polyposis Syndromesmentioning

confidence: 99%

A Contribution to the Understanding of the Heredity of Skin Tumors

Schnyder

1994

The Journal of Dermatology

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Perifollicular fibromatosis cutis with polyps of the colon?a cutaneo-intestinal syndrome sui generis

1975

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In the present study, a peculiar fibromatosis cutis in two siblings has been reported the dermatosis being characterized by innumerable perifollicular fibromas on face, neck and trunk as well as multiple fibromata pendulantia. Since the father allegedly had skin lesions resembling those of his two affected children, an inherited condition is assumed for the disease manifesting itself rather late in age. In the female patient, several adenomatous colon polyps one being transformed into carcinoma were found. Since the association of distinct epithelial and mesenchymal tumours of the skin and the cranial bones with multiple colon polyps is typical for Gardner's syndrome, we have discussed in detail the possiblity of an unknown variant of it. On the other hand, most features of Gardner's syndrome (cutaneous and subcutaneous epidermoid cysts, desmoid tumours, generalized osteomas, a marked multitude of colon polyps, early manifestation of skin and bone changes) were absent in both cases whereas, to our knowledge, in Gardner's syndrome perifollicular fibromas have never been seen. Since perifollicular fibromas are organoid tumours of the mesenchymal hair sheath being clearly defined both clinically and histologically, they must not be confused with the equally well characterized cutaneous tumours of Gardner's syndrome. We are prone to assume that the (irregular?) ASSOCAITION OF MULTIPLE PERIFOLLICULAR FIBROMAS AND COLON POLYPS Represents a distinct nosological entity neither identical with Gardner's syndrome nor with any other known dermo-intestinal syndrome. Thus, perifollicular fibromatosis should alert the dermatologist to consider periodic thorough examination for intestinal polyps the more as they may change into malignant growth.

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Gardner's syndrome without polyposis?

Cited by 5 publications

References 8 publications

Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis

Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis

A Contribution to the Understanding of the Heredity of Skin Tumors

Perifollicular fibromatosis cutis with polyps of the colon?a cutaneo-intestinal syndrome sui generis

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