Birt A R, Hogg G R, Dubé W J
Arch Dermatol. 1977 Dec;113(12):1674-7.
In a sibship of nine, six members had hereditary medullary carcinoma of the thyroid. Two of those with thyroid neoplasms and two without had numerous small papular skin lesions. These proved to be a type of pilar tumor that we named fibrofolliculoma. Further investigation of the total kindred of 70 showed no other evidence of thyroid neoplasm. Skin tumors only appeared after the age of 25 years. Fifteen of 37 members older than the age of 25 years exhibited the typical skin lesions. Obviously, the original sibship was the repository of two dominantly inherited traits. The fibrofolliculoma is characterized by abnormal hair follicles with epithelial strands extending out from the infundibulum of the hair follicle into a hyperplastic mantle of specialized firbrous tissue. Associated skin lesions in this kindred were trichodiscomas and acrochordons.
在一个九口之家的亲属中，有6名成员患有遗传性甲状腺髓样癌。其中两名患有甲状腺肿瘤的成员和两名没有甲状腺肿瘤的成员有许多小丘疹性皮肤病变。这些病变被证实是一种毛囊肿瘤，我们将其命名为纤维毛囊瘤。对这个70人的大家庭进行的进一步调查显示，没有其他甲状腺肿瘤的证据。皮肤肿瘤仅在25岁以后出现。在37名25岁以上的成员中，有15人表现出典型的皮肤病变。显然，最初的这个亲属群体携带着两种显性遗传特征。纤维毛囊瘤的特征是毛囊异常，上皮条索从毛囊漏斗部延伸到特殊纤维组织的增生性包膜中。这个家族中相关的皮肤病变有毛发结节和皮赘。
