 |
Publisher: Peytchinski, Gospodin Iliev
ISSN: 1312 773X (Online)
Issue: 2007, vol. 13, book 1
Subject Collection: Medicine
Page: 63-67
DOI: 10.5272/jimab.2007131.59
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
ABSTRACT:
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.
- Download FULL TEXT (PDF - 715 KB)
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
REFERENCES:
1. Jemal A, Tiwari RC, Murray T et all, Cancer Statistics, 2004. CA Cancer J Clin 2004;54:8–29.
2. Glimelius B, Hofman K, Graf W at all, Quality of life during chemotherapy in patients with symptomatic advanced colorectal cancer. The Nordic Gastrointestinal Tumour Adjuvant Therapy Group. Cancer 1994; 73: 556–562.
3. Machover D. A comprehensive review of 5-fluorouracil and leucovorin in patients with metastatic colorectal cancer. Cancer 1997; 80: 1179–1187.
4. Meta-analysis Group in Cancer. Efficacy of IV continuous infusion of fluorouracil compared with bolus administration in advanced colorectal cancer. J Clin Oncol 1998; 16: 301–308.
5. Pommier Y, Tanizava A, Kohn KW. Mechanisms of topoisomerase I inhibition by anticancer drugs. In: Liu LF, ed. Advanced in pharmacology. New York: Academic Press 1994; 29B; 73-92
6. Saltz LB, Cox JV, Blanke C et al. Randomized trial of irinotecan versus fluorouracil by continuous infusion after fluorouracil failure in patients with metastatic colorectal cancer. Lancet 1998; 352: 1407-1412
7. Douillard JY, Cunningham D, Roth AD et al. Irinotecan combined with fluorouracil compared with fluorouracil alone as first- line treatment for metastatic colorectal cancer: a multicentre randomized trial. Lancet 2000; 355: 1371
8. Miller AB, Hoogstraten B, Staquet M et al. Reporting results of cancer treatment. Cancer 1981; 47; 207-214
9. Brimdage MD, Pater JL, Zee B: Assessing the reliability of two toxicity scales: Implications for interpreting toxicity data. J Natl Cancer Inst 1993; 85; 38-48
10. Kaplan EL, Meyer P: Non-parametric estimation from incomplete observations. J Am Stat Assoc 1959; 53; 457- 481
11. Tournigand C, Andre T, Achille E et al. FOLFIRI followed by FOLFOX6 or the reverse sequence in advanced colorectal cancer: a randomized GERCOR study. J Clin Oncol 2004; 22; 229-237
12. Goldberg RM, Sargent DJ, Morton RF et all: A randomized controlled trial of fluorouracil plus leucovorin, irinotecan, and oxalplatin combinations in patients with previously untreated metastatic colorectal cancer. J Clin Oncol 2004; 22; 23-30