Schimmelpenning综合征一例

患者女,17岁,右侧头面颈部泛发性褐色疣状增殖性皮损17年.右眼下睑泪囊区触及一质硬囊性肿物,右下泪小点缺如.眼眶核磁平扫:右眼泪囊区可见一类圆形肿物,压及筛窦及眼外肌.头面部皮损组织病理示:表皮角化过度,棘层增生肥厚,表皮乳头瘤样增生,真皮内可见大量成熟及不成熟的皮脂腺结构,部分见异位的大汗腺,诊断为皮脂腺痣.口腔右侧黏膜,包括右侧上腭及右半舌部见疣状赘生物;口腔全景片示右侧上下颌骨及牙槽骨发育欠佳.此外,双上肢可见大面积咖啡色斑片及褐色斑点.患者智力中等,既往有惊厥史.诊断:Schimmelpenning综合征.经皮肤外科手术后去除部分皮损.

Schimmelpenning syndrome: a case report

A 17-year-old female patient presented with generalized brown verrucous proliferative skin lesions on the right side of the head,face and neck for 17 years.Ophthalmoscopy showed a hard cystic mass in the right lacrimal sac area with absence of right lower lacrimal punctum.Magnetic resonance imaging of the orbit revealed a quasi-circular mass compressing the ethmoid sinus and extraocular muscles in the right lacrimal sac area.Histopathological examination of skin lesions of the head and face revealed epidermal hyperkeratosis,acanthosis,papillomatous hyperplasia in the epidermis,numerous mature or immature sebaceous glands in the dermis,and ectopic apocrine sweat glands in some areas.A pathological diagnosis of naevus sebaceous was made.Verrucous vegetation was observed in the oral mucosa including the right side of the palate and tongue,and orthopanotomography showed poor development of the right side of upper and lower jaw bones as well as alveolar bones.Moreover,there were large areas of coffee-colored patches and brown spots on both upper extremities.The patient had average intelligence and a history of convulsion.She was diagnosed with Schimmelpenning syndrome.Lesions were partially removed by surgical excision.