Gorlin syndrome associated with midline nasal dermoid cyst.
Gorlin syndrome associated with midline nasal dermoid cyst.
复制标题
Gorlin 综合征与中线鼻皮样囊肿相关。
DOI：
10.1136/jmg.33.8.704
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发表时间：
1996
影响因子：
4
通讯作者：
M. Smith
中科院分区：
文献类型：
--
作者：
E. Pivnick;A. Walter;M. Lawrence;M. Smith
Gorlin综合征是一种常染色体显性遗传的多系统疾病，其特征是多发性基底细胞痣、颌骨囊肿、手掌和足底凹陷、骨骼异常和各种其他缺陷。Gorlin综合征患者易患基底细胞癌和其他肿瘤。这是第一个报告，以描述共存的Gorlin综合征和鼻皮样囊肿。一个4岁的女孩被诊断为髓母细胞瘤，并接受手术和放射治疗。由于脑瘤、多发性小痣主要位于躯干上部和肋骨异常，寻求进行遗传评估。几个痣活检显示痣样基底细胞癌。既往病史对于出生时观察到的中线鼻小点具有重要意义。这一发现的意义是没有认识到，直到皮样囊肿扩大，就在她的脑瘤诊断。基底细胞痣、颌骨囊肿和皮样囊肿之间存在共同的起源组织。我们认为，这两种罕见疾病在一个病人中的关联不是偶然发生的。
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.