Balsa R E, Ingratta S M, Galeano F A, Raffaeli C A, Drut R, Vestfrid M
Med Cutan Ibero Lat Am. 1985;13(1):5-11.
A case of nevoid basal-cell carcinoma syndrome in a four years old girl with preceding familiar history is reported. In her epithelioma father numerous basocellular, milia cysts, mandibular cysts, dentition disorders, brain falx calcifica ted and hiperkeratosis of the sole of the feet were described. Clinically, the girl presented initial migraine and vomits together with macrocephalus, bossing forehead, hypertelorism, physical disorders, retarded maturation, "keel" thorax, genu recurvatum, hallux valgus, hammerfinger, pigmented nevus and hyperkeratosis of the sole of the feet. Radiologically diastasis of the skull suture with jagged image, endocranial hypertension, signs of macrocephalus of the facial bones, calcification of the brain falx, bridge of the sella turcica, bifid ribs and fusion of the ribs was observed. The axial computed tomography showed calcification of the vermix cerebelosus and severe hydrocephalus suggesting the presence of an occupant mass. After total surgical removal of the mass, the histological examination revealed a medulloblastoma. The skin biopsy of a cutaneous nevic element showed a basal-cell epithelioma. With the exception of an ovarian fibroma and fusion of the vertebras non appreciable because of the age. With the exception of the ovarian fibroma and the fusion of the vertebras, the patient showed the same characteristics as those described in the classification of Gorlin. The importance of this paper communication lie on the preceding familiar history, infrequency, compromise of different systems, malignant tendency of the cutaneous lesions and frequent association with non cutaneous neoplasias.
报告了一例4岁女童的痣样基底细胞癌综合征病例，其有家族病史。在她患上皮瘤的父亲身上，曾描述有众多基底细胞癌、粟丘疹囊肿、下颌囊肿、牙列紊乱、脑镰钙化和足底角化过度。临床上，该女童最初出现偏头痛和呕吐，同时伴有巨头症、前额突出、眼距过宽、身体发育障碍、发育迟缓、“龙骨”胸、膝反屈、拇外翻、槌状指、色素痣和足底角化过度。放射学检查发现颅骨缝增宽呈锯齿状影像、颅内高压、面骨巨头症迹象、脑镰钙化、蝶鞍桥、肋骨分叉和肋骨融合。轴向计算机断层扫描显示小脑蚓部钙化和严重脑积水，提示存在占位性肿块。在将肿块完全手术切除后，组织学检查显示为髓母细胞瘤。皮肤痣样病变的活检显示为基底细胞上皮瘤。由于年龄原因，除了卵巢纤维瘤和椎体融合不明显外。除了卵巢纤维瘤和椎体融合外，该患者表现出与戈林分类中所描述的相同特征。本文报告的重要性在于其家族病史、罕见性、不同系统受累、皮肤病变的恶性倾向以及与非皮肤肿瘤的频繁关联。
