Pujol R M, Casanova J M, Egido R, Pujol J, de Moragas J M
Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Pediatr Dermatol. 1995 Dec;12(4):331-5. doi: 10.1111/j.1525-1470.1995.tb00195.x.
A 40-year-old man and his 6-year-old only son had numerous, firm papulonodular lesions on their faces. Their medical histories were unremarkable and no family consanguinity was recorded. Surgical excision of several lesions was performed on each patient. All the lesions were solid tumors with the characteristic histopathologic features of pilomatricoma. A gastrointestinal radiologic and fibroscopic survey disclosed numerous adenomatous colonic polyps in the father. Additional studies revealed that he also had minor dental abnormalities, a small osteoma on the right mandible, and unilateral, ocular, pigmented retinal macules. The diagnosis of multiple adenomatous colonic polyposis was established only after the well-known association of pilomatricoma-like changes in epidermal cysts in patients with Gardner syndrome was considered. Possibly, multiple familial pilomatricomas could be considered a cutaneous marker of Gardner syndrome.
一名40岁男性及其6岁独子面部有许多坚实的丘疹结节性皮损。他们的病史无异常，且无家族近亲结婚记录。对每位患者的多个皮损进行了手术切除。所有皮损均为实体瘤，具有毛发瘤的特征性组织病理学特征。胃肠道放射学和纤维镜检查发现父亲有许多结肠腺瘤性息肉。进一步检查发现他还有轻微的牙齿异常、右下颌骨的一个小骨瘤以及单侧眼部色素性视网膜黄斑。仅在考虑到加德纳综合征患者表皮囊肿中存在毛发瘤样改变这一众所周知的关联后，才确诊为多发性结肠腺瘤性息肉病。多发性家族性毛发瘤可能被视为加德纳综合征的一种皮肤标志物。
