Sauer Arnaud, Blavin Julie, Lhermitte Benoit, Speeg-Schatz Claude
Service d'Ophtalmologie, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg Cedex, France.
J AAPOS. 2011 Aug;15(4):387-8. doi: 10.1016/j.jaapos.2011.05.010.
Basal cell nevus syndrome (MIM #109400), also known as Gorlin syndrome, is a rare, autosomal-dominant disorder with complete penetrance and variable expressivity. The syndrome is characterized by odontogenic keratocysts of the mandible, postnatal tumors, and multiple basal cell carcinomas. Mutations in the PTCH1 gene (a tumor suppressor gene) or, more rarely, the NBCCS or the TRPC1 genes are responsible for the development of many postnatal tumors. We present a case of Gorlin syndrome presenting as a conjunctival ganglioglioma in a 13-year-old girl. While cases of cerebral ganglioglioma have been described in association with Gorlin syndrome, conjunctival ganglioglioma has not, to the best of our knowledge, been reported.
基底细胞痣综合征（MIM #109400），也称为戈林综合征，是一种罕见的常染色体显性疾病，具有完全外显率和可变表达性。该综合征的特征是下颌骨牙源性角化囊肿、出生后肿瘤和多发性基底细胞癌。PTCH1基因（一种肿瘤抑制基因）或更罕见的NBCCS或TRPC1基因的突变是许多出生后肿瘤发生的原因。我们报告一例13岁女孩以结膜神经节胶质瘤形式出现的戈林综合征病例。虽然已有报道脑神经节胶质瘤病例与戈林综合征相关，但据我们所知，结膜神经节胶质瘤尚未见报道。
