A neglected case of basal cell carcinoma in Gorlin-Goltz Syndrome

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Gorlin-Goltz syndrome is an autosomal dominant disorder with a high degree of penetrance and variable expressivity. It is characterized by basal cell carcinomas, odontogenic keratocysts, palmar pits, ectopic calcifications of the falx cerebri. It may be associated in 10% of the patients with aggressive basal cell carcinomas (1,2).

We report the neglected case of a 52-year-old female patient that describes a slow but aggressive evolution of the two tumor formations presented over more than 10 years. She presented with an erosive tumor formation, in different stages of peripheral epithelialization, central ulceration, covered by whitish deposits with an impressive diameter (45 cm), comprising half of the posterior chest with extension to the right latero-anterior sight. The second tumor formation with a similar appearance is located at the right temporal level, with extension at the level of the heterolateral orbit. CT showed invasion of the bone structures proximal to the two tumor formations and ectopic calcifications of the falx cerebri. HP confirmed the diagnosis of basal cell carcinoma. 

The patient's case was surgically overcome, so she was referred to the Oncology Department to initiate therapy with Vismodegib 150 mg/day, for palliative purposes.

Early diagnosis and treatment of Gorlin-Goltz syndrome, as well as family screening and genetic counseling are essential. The morbidity of neglected cases is very high, so this particular case overcome due to neglect draws attention to the need for proper management starting with the first medical staff who comes into contact with these patients or their families.