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

Summary

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 possibility 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?) association 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.

Zusammenfassung

Perifolliculäre Fibrome sind organoide, in einer solitären und einer multiplen Variante vorkommende Tumoren der mesenchymalen Haarscheide, die bisher nur sehr selten beschrieben worden sind. Wir untersuchten zwei Geschwister mit einer ungewöhnlichen Fibromatosis cutis, die durch eine excessive Zahl von perifolliculären Fibromen an Stirn, Wangen, Hals und Stamm, sowie durch multiple Fibromata pendulantia an Hals, Axillen und Leistenbeugen gekennzeichnet war. Da auch beim Vater ähnliche Hautveränderungen wie bei seinen beiden Kindern bestanden haben sollen, ist in unseren Fällen eine erbliche Ursache der Erkrankung mit relativ später Manifestation anzunehmen. Bei der einen Patientin fanden sich außerdem mehrere adenomatöse Colonpolypen, einer davon carcinomatös entartet.

Da die Assoziation bestimmter epithelialer und mesenchymaler Tumoren der Haut mit Osteomen und multiplen Colonpolypen für das Gardner-Syndrom pathognomonisch ist, haben wir die Möglichkeit einer ungewöhnlichen, bisher nicht beschriebenen Variante dieses Syndroms eingehend diskutiert. Seine wesentlichen Merkmale (cutane und subcutane epidermoidale Cysten, Desmoid-Tumoren, generalisierte Osteome, ausgeprägte Multiplizität der Colonpolypen, frühe Manifestation der cutanen und ossären Veränderungen) waren jedoch bei unseren Fällen nicht vorhanden, während andererseits perifolliculäre Fibrome beim Gardner-Syndrom bisher unseres Wissens nicht beschrieben worden sind. Da perifolliculäre Fibrome einen klinisch und histologisch gut differenzierbaren organoiden Tumor der mesenchymalen Follikelscheide darstellen, dürfen sie nicht mit den ebenfalls klar definierten cutanen Geschwülsten des Gardner-Syndroms vermischt werden. Es ist vielmehr anzunehmen, daß die hier beschriebene (unregelmäßige?) Assoziation von multiplen perifolliculären Fibromen der Haut mit Colonpolypen eine besondere nosologische Entität darstellt, die weder dem Gardner-Syndrom noch einem anderen bekannten dermo-intestinalen Syndrom gleichzusetzen ist. Patienten mit multiplen perifolliculären Fibromen sollten also sorgfältig bezüglich intestinaler Polypen untersucht werden, zumal mit der Möglichkeit der malignen Entartung solcher Polypen gerechnet werden muß.

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Hornstein, O.P., Knickenberg, M. Perifollicular fibromatosis cutis with polyps of the colon—a cutaneo-intestinal syndrome sui generis. Arch. Derm. Res. 253, 161–175 (1975). https://doi.org/10.1007/BF00582068

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Keywords

  • Desmoid Tumour
  • Colon Polyp
  • Epidermoid Cyst
  • Intestinal Polyp
  • Nosological Entity