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与中线鼻皮样囊肿相关的戈林综合征。

Gorlin syndrome associated with midline nasal dermoid cyst.

作者信息

Pivnick E K, Walter A W, Lawrence M D, Smith M E

机构信息

Health Sciences Center, University of Tennessee, Memphis 38163, USA.

出版信息

J Med Genet. 1996 Aug;33(8):704-6. doi: 10.1136/jmg.33.8.704.

Abstract

Gorlin syndrome is an autosomal dominant multisystem disorder characterised by multiple basal cell naevi, cysts of the jaw, pits of the palms and soles, skeletal anomalies, and various other defects. Patients with Gorlin syndrome have a predisposition to basal cell carcinomas and other neoplasms. This is the first report to describe the coexistence of Gorlin syndrome and a nasal dermoid cyst. A 4 year old girl was diagnosed with medulloblastoma and treated with surgery and radiation therapy. A genetic evaluation was sought because of the brain tumour, multiple small naevi localised mostly on the upper torso, and rib abnormalities. Biopsies of several naevi showed naevoid basal cell carcinoma. Past medical history was significant for a midline nasal punctum noted at birth. The significance of this finding was unrecognised until the dermoid cyst enlarged, just before the diagnosis of her brain tumour. A common tissue of origin exists between basal cell naevi, cysts of the jaw, and dermoid cysts. We propose that the association of these two rare conditions in one patient is not a chance occurrence.

摘要

戈林综合征是一种常染色体显性多系统疾病,其特征为多发性基底细胞痣、颌骨囊肿、手掌和足底凹陷、骨骼异常以及各种其他缺陷。戈林综合征患者易患基底细胞癌和其他肿瘤。这是首例描述戈林综合征与鼻皮样囊肿并存的报告。一名4岁女孩被诊断为髓母细胞瘤,并接受了手术和放射治疗。由于脑部肿瘤、多处主要位于上半身的小痣以及肋骨异常,遂进行了基因评估。对几处痣的活检显示为痣样基底细胞癌。既往病史显示出生时即发现中线鼻小孔。直到皮样囊肿在她脑部肿瘤诊断前增大,这一发现的重要性才被认识到。基底细胞痣、颌骨囊肿和皮样囊肿之间存在共同的组织起源。我们认为这两种罕见病症在一名患者身上同时出现并非偶然。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f38c/1050708/e373f14756f2/jmedgene00262-0072-a.jpg

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