PERIFOLLICULAR FIBROMATOSIS CUTIS WITH POLYPS OF COLON - CUTANEO-INTESTINAL SYNDROME SUI-GENERIS
PERIFOLLICULAR FIBROMATOSIS CUTIS WITH POLYPS OF COLON - CUTANEO-INTESTINAL SYNDROME SUI-GENERIS
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DOI：
10.1007/bf00582068
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发表时间：
1975-01-01
期刊：
影响因子：
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通讯作者：
KNICKENBERG, M
中科院分区：
文献类型：
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作者：
HORNSTEIN, OP;KNICKENBERG, M
本研究报告一对兄弟姐妹的特殊皮肤纤维瘤病，其特征是面部、颈部和躯干有无数的滤泡周围纤维瘤，以及多个垂状纤维瘤。由于据称父亲的皮肤损伤与他的两个受影响的孩子的皮肤损伤相似，因此假定这种疾病是遗传的，在相当晚的年龄才表现出来。在女性患者中，发现了几个腺瘤性结肠息肉，其中一个转化为癌。由于皮肤和颅骨的不同上皮和间充质肿瘤与多发性结肠息肉的关联是加德纳综合征的典型特征，我们已经详细讨论了其未知变体的可能性。另一方面，Gardner综合征的大多数特征（皮肤和皮下表皮样囊肿、硬纤维瘤、广发性骨瘤、大量结肠息肉、皮肤和骨骼早期变化）在这两例中都不存在，而据我们所知，Gardner综合征的滤泡周围纤维瘤从未见过。由于毛囊周围纤维瘤是间充质毛鞘的类器官肿瘤，在临床和组织学上都有明确的定义，因此不能将其与同样具有特征的加德纳综合征皮肤肿瘤相混淆。我们倾向于认为（不规则的）多发性滤泡周围纤维瘤和结肠息肉的关联代表了一种独特的疾病实体，既不等同于加德纳综合征，也不等同于任何其他已知的皮肤-肠道综合征。因此，滤泡周围纤维瘤病应提醒皮肤科医生考虑定期彻底检查肠息肉，因为它们可能转变为恶性生长。
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.