Hornstein O P, Knickenberg M
Arch Dermatol Res (1975). 1975 Sep 12;253(2):161-75. doi: 10.1007/BF00582068.
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.
在本研究中，报告了两例患有一种特殊皮肤纤维瘤病的同胞，该皮肤病的特征是面部、颈部和躯干出现无数毛囊周围纤维瘤以及多个皮肤悬垂纤维瘤。由于据称父亲有与他两个患病孩子相似的皮肤病变，因此推测该疾病为遗传性疾病，发病较晚。在女性患者中，发现了几个腺瘤性结肠息肉，其中一个已转变为癌。由于皮肤和颅骨的不同上皮和间充质肿瘤与多个结肠息肉的关联是加德纳综合征的典型表现，我们详细讨论了其未知变体的可能性。另一方面，两例患者均未出现加德纳综合征的大多数特征（皮肤和皮下表皮样囊肿、硬纤维瘤、全身性骨瘤、大量结肠息肉、皮肤和骨骼变化的早期表现），而据我们所知，在加德纳综合征中从未见过毛囊周围纤维瘤。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界定，因此绝不能将其与加德纳综合征中同样特征明显的皮肤肿瘤相混淆。我们倾向于认为，多个毛囊周围纤维瘤与结肠息肉的（不规则？）关联代表一种独特的疾病实体，既不同于加德纳综合征，也不同于任何其他已知的皮肤肠道综合征。因此，毛囊周围纤维瘤病应提醒皮肤科医生考虑定期对肠道息肉进行全面检查，因为它们可能会转变为恶性肿瘤。
