Abstract
Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon, autosomal dominant inherited disorder, which is characterized by numerous basal cell carcinomas, maxillary keratocysts, and musculoskeletal malformations. Occasionally, it is associated with aggressive basal cell carcinomas and internal malignancies. Early diagnosis and treatment are essential, as well as genetic counseling. A patient with characteristic symptoms of nevoid basal cell carcinoma and a review of the literature is presented.
Highlights
Gorlin-Goltz syndrome, known as basal cell nevus syndrome, is an uncommon, autosomal dominant inherited disorder, which is characterized by numerous basal cell carcinomas, maxillary keratocysts and musculoskeletal malformations
Histopathologic examination of a nodule excised from the angle of eye and ulcer confirmed the diagnosis of basal cell carcinoma, and we established the diagnosis of Gorlin- Goltz syndrome
Chromosomal mapping and genetic studies suggest that the underlying basis for this disease is an abnormality in the Hedgehog (Hh) signaling pathway
Summary
Gorlin-Goltz syndrome, known as basal cell nevus syndrome, is an uncommon, autosomal dominant inherited disorder, which is characterized by numerous basal cell carcinomas (seen in 50–97% of people with the syndrome), maxillary keratocysts (present in about 75% of patients) and musculoskeletal malformations. It was first reported by Jarisch and White in 1894. Goltz described the distinct syndrome, consisting of the presence of multiple nevoid basal cell epitheliomas, jaw cysts, and bifid ribs[1] The incidence of this disorder is estimated to be 1 in 50,000 to 150,000 in the general population, varying by region[2]. Along with multiple basal cell carcinomas (BCC), jaw cysts and musculoskeletal anomalies are lesser known manifestations of this disorder involving the skin, central nervous system, ophthalmic, endocrine, urogenital system, and so on[4,5,6,7]
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