Metastatic Basal cell carcinoma accompanying gorlin syndrome.

Yeliz Bilir,Erkan Gokce,Faik Alev Deresoy,Banu Ozturk,Ruken Yuksekkaya,Emel Yaman

doi:10.1155/2014/362932

Yeliz Bilir, Erkan Gokce + Show 4 more

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https://doi.org/10.1155/2014/362932

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Abstract

Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome.

Highlights

Gorlin syndrome, one of the hereditary syndromes concomitant with multiple basal cell carcinoma (BCC), is associated with many anomalies observed in several systems [1]
Our case is a basal cell carcinoma with diffuse lung metastases, which has a course with recurrent multiple basal cell carcinoma and which is accompanied by Gorlin syndrome diagnosed at advanced age
The medical history of the 66-year-old male patient, who has been presented to the hospital with exophthalmus and skin lesions, revealed that he had firstly undergone local excision due to basal cell skin carcinoma located on his face 12 years ago, that new lesions had formed 2 cm below the left oculonasal junction and in the left nasal root 6 years following the first diagnosis, and that the mass has been diagnosed to be a recurrence of BCC that indented medial wall of the left orbita and that expanded to close bones

Summary

Introduction

One of the hereditary syndromes concomitant with multiple basal cell carcinoma (BCC), is associated with many anomalies observed in several systems [1]. This autosomal dominant syndrome is characterized by multiple BCC seen in the early stage of the life, palmar and plantar pits, mandibular prognathism, mandibular keratocysts, hypertelorism, falx cerebri calcification, spina bifida, bifid costa, vertebral abnormalities, ovarian fibroma, cardiac fibromas, milia, epidermal cysts, mesenteric cysts, gastric polyps, medulloblastoma, meningioma, and fatal rhabdomyoma [1]. Our case is a basal cell carcinoma with diffuse lung metastases, which has a course with recurrent multiple basal cell carcinoma and which is accompanied by Gorlin syndrome diagnosed at advanced age

Case Report

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Discussion