Uitto J, Santa-Cruz D J, Eisen A Z
Br J Dermatol. 1979 Aug;101(2):185-95. doi: 10.1111/j.1365-2133.1979.tb05606.x.
Familial cutaneous collagenoma is an inherited condition characterized by the presence of multiple dermal nodules symmetrically distributed on the trunk and upper arms. In this study, six patients, the proband, his four siblings and a niece, representing a kindred of fifty-two subjects, were examined for aymptomatic cutaneous nodules mainly on the back and chest. The individual lesions varying from a few millimetres to several centimetres in size, were indurated, and showed minimal epidermal changes. Histologically, the nodules were characterized by an excessive accumulation of dense, coarse collagen fibres in the dermis. The elastic fibres appeared diminished in number, and in some areas they were abnormally thin and fragmented. The lesions, therefore, were connective tissue naevi of the collagen type. On the basis of the family history and histological observations the patients were diagnosed as having familial cutaneous collagenoma. Examination of the family pedigree indicated that the dermal nodules in familial cutaneous collagenoma were inherited in an autosomal dominant pattern. It was also observed that the lesions had an onset at the age of 15 to 19 years, and their number increased significantly during pregnancy. It is conceivable that familial cutaneous collagenoma is an inherited condition whose expression may be under a hormonal control.
家族性皮肤胶原瘤是一种遗传性疾病，其特征为躯干和上臂对称分布有多个真皮结节。在本研究中，对6名患者进行了检查，包括先证者、他的4名兄弟姐妹和1名侄女，他们代表了一个52人的家族，主要检查了背部和胸部无症状的皮肤结节。单个损害大小从几毫米到几厘米不等，质地坚硬，表皮变化极小。组织学上，结节的特征是真皮内致密、粗大的胶原纤维过度积聚。弹性纤维数量减少，在某些区域异常纤细且断裂。因此，这些损害是胶原型结缔组织痣。根据家族史和组织学观察，患者被诊断为家族性皮肤胶原瘤。对家族谱系的检查表明，家族性皮肤胶原瘤中的真皮结节以常染色体显性模式遗传。还观察到这些损害在15至19岁时发病，并且在怀孕期间数量显著增加。可以想象，家族性皮肤胶原瘤是一种遗传性疾病，其表现可能受激素控制。
