Journal of IMAB - Annual Proceeding (Scientific Papers)
, Gospodin Iliev
ISSN: 1312 773X
Issue: 2007, vol. 13, book 1
Subject Collection: Medicine
Online date: November 14, 2007
J of IMAB 2007; 13(1):63-67
A FAMILIAL CASE OF GORLIN-GOLTZ SYNDROME
Ivelina Yordanova1, Dimitar K. Gospodinov1, Veselin Kirov2, Verka Pavlova1, Galja Radoslavova1
1) Department of Dermatology and Venereology,
2) Department of Oncology, Medical University - Pleven, Bulgaria
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 flesh-colored, 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.
Key words: Gorlin-Goltz syndrome, basal cell carcinomas, jaw odontogenic keratocysts, palmar pits, dermoscopy, cryosurgery.
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Please cite this article as:
Yordanova I, Gospodinov DK, Kirov V, Pavlova V, Radoslavova G. A familial case of Gorlin-Goltz syndrome. J of IMAB. 2007; 13(1):63-67. doi: 10.5272/jimab.2007131.59
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