A familial case of Gorlin-Goltz syndrome

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 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.

Late Onset of Multiple Basal Cell Carcinomas in a Patient with Gorlin-Goltz Syndrome Previously Treated for Hodgkin’s Lymphoma/ Kasna pojava multiplog bazocelularnog karcinoma kod pacijenta sa Gorlin-Golcovim sindromom prethodno lečenog od Hočkinovog limfoma

“…The variety of clinical features seen in our case, according to a group of authors and R. Gorlin himself, are likely the result of an inborn error in developmental metabolism determines causing multiformity of symptoms (16). Moreover, further reports have only broaden the list of abnormalities found in affected individuals (18,20,(22)(23)(24)(25).…”

Gorlin-Goltz syndrome: a rare case report

“…Although no such studies were undertaken in our patient, he was probably a sporadic case since his parents and the siblings examined, showed no abnormality. Individuals with no known affected family members may comprise upto 60% of all affected individuals 2 10. The prevalence of Gorlin-Goltz syndrome has been estimated about 1 in 60 000 1 9 10.…”

Gorlin-Goltz Syndrome-Case Report and Review

“…GGS, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multi systemic disease with an autosomal dominant trait, with a complete penetrance and variable expressivity, though sporadic cases have been described [1,2]. GGS shows a predisposition to neoplasms and other developmental abnormalities.…”

“…GGS shows a predisposition to neoplasms and other developmental abnormalities. The estimated prevalence varies from 1/57,000 to 1/256,000 among various studies, with a male-to-female ratio of 1:1 [2]. The first report of the syndrome was made in 1894 by Jarisch and White in a patient with multiple basal cell carcinomas, scoliosis, and learning disability.…”

“…The syndrome exhibits abnormalities similar to those seen in people exposed for long periods to UV radiation. Several different mutations of the PTCH1 gene have also been identified in patients with GGS [2,3].…”