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- W2169784853 abstract "SUMMARY: Gorlin-Goltz syndrome (GGS) also known as Nevoid Basal Cell Carcinoma Syndrome is a rare autosomal-dominant disorder characterized mainly by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts of the jaw and palmar pits. This syndrome is associated with a wide spectrum of developmental anomalies and neoplasms. A case of familial Gorlin-Goltz syndrome with many of the common manifestations is reported. A 29 year-old woman and her 50 year-old mother with GGS are presented. The disease started respectively at the age of 18 and 22, with multiple basal cell carcinomas on the face and upper extremities. Because of multiple odontogenic keratocysts of the jaws they two have been treated surgically. Clinical, cranial CT, histological and dermoscopy images from both patients were obtained. Multiple BCC in the mother and the daughter were detected, nodular and superficial spreading, 10 - 30 mm in diameter. The daughter has many pits on her palms. Palmar pits have a characteristic dermoscopy with red globules inside the fleshcolored, slightly depressed lesions. The histological examinations revealed different histological variants of BCC. The X-rays examination showed two jaw cysts in the daughter, calcifications of the brain falx and bridges of the sella turcica in both patients. The BCC in the patients were treated with cryosurgery and surgical excisions with good results. The patients are followed up. In conclusion our case demonstrated multisystemic involvement of GGS. The combination of clinical, imaging and histological findings is helpful in identifying GGS patients. It is important to make an early diagnosis and a proper management in GGS, which may have cancer predisposition. The genealogical analysis is important for the determination of the genetic risk and the prognosis for the proband’s relatives." @default.
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- W2169784853 date "2008-04-25" @default.
- W2169784853 modified "2023-10-16" @default.
- W2169784853 title "A familial case of Gorlin-Goltz syndrome" @default.
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- W2169784853 doi "https://doi.org/10.5272/jimab.2007131.59" @default.
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