Gorlin-Goltz syndrome, also known as the basal cell naevus syndrome, is a rare phakomatosis characterised by multiple odontogenic keratocysts (KOT), multiple . Gorlin and Goltz’s eponymous syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant disorder. The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome— NBCCS) is a rare autosomal dominant syndrome caused due.

Author: Vikora Bagul
Country: Qatar
Language: English (Spanish)
Genre: Love
Published (Last): 17 July 2012
Pages: 294
PDF File Size: 3.86 Mb
ePub File Size: 15.29 Mb
ISBN: 781-3-59857-424-2
Downloads: 7860
Price: Free* [*Free Regsitration Required]
Uploader: Kilmaran

The Gorlin-Goltz syndrome is an autosomal dominant inherited syndrome manifested by multiple defects involving the skin, nervous system, eyes, endocrine system, and bones. The aggressive nature of odontogenic keratocyst: Mutations in the human homologue of Drosophila patched PTCH1a tumor suppressor gene on chromosome 9, gorlij identified as the underlying genetic event in this syndrome.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or gootz. In order to make a diagnosis of the Gorlin-Goltz gorllin, some diagnostic criteria have to be taken into account. The syndrome is also known as multiple basal cell carcinoma syndrome NBCCShereditary cutaneomandibular polyonocosis, multiple nevoid basal cell epithelioma-jaw cysts, or bifid rib syndrome 2,4.

Incidental finding on routine CT scan following car accident.

We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. The diagnostic criteria for nevoid BCC was established by Evans et al. Introduction GGS, also known as nevoid synsrome cell carcinoma syndrome NBCCSis an infrequent multisystemic disease with an autosomal syyndrome trait, with a complete penetrance and variable expressivity, though sporadic cases have been described [ 12 ].

The occurrence of multiple OKCs may be the first and only manifestation.

Pathogenesis of this syndrome is attributed to mutations or micro deletion of PTCH-1 gene located in the 9q Some authors take plurilamellar appearance of the falx cerebri calcification as a pathognomonic symptom of Gorlin-Goltz syndrome. In this procedure, sydnrome layer of bone at the margin of the cyst is removed.

  IC 74190 PDF

Gorlin-Goltz syndrome – EyeWiki

Oral vismodegib inhibitor of the Hedgehog signaling pathway may reduce development of BCC but adverse events are common. Nil Conflict of Interest: To receive news and publication updates for Case Reports in Dentistry, enter your email address in the box below.

The use of vitamin A analogues isotretinoin or combined oral etretinate has also been suggested. AdolescentAdult ICD The KCOT is locally destructive, despite its bland histological features. Results of a population based study. Genetic counseling Transmission is autosomal dominant, with high penetrance and variable expressivity.

Multiple BCCs or one occurring under the age of 20 years. Various authors found significant differences between syndromic keratocyst and solitary keratocysts. Case 3 Case 3. It represses transcription of genes encoding proteins belonging to the transforming growth factor TGF -beta, hence controlling growth and development of normal tissue.

Nevoid basal-cell carcinoma syndrome

Gorlin-Goltz syndrome ggorlin an autosomal dominant disorder with a high degree of penetrance[ 1 ] and variable expressivity. The case illustrates the need for awareness of the syndrome among dentists in relation to younger age patients with no lesions of the skin. Patient was asked for CVS, hematologic, neurological abnormalities, and for allergies with no relevant history. Literature of vismodegib being used in patients with Gorlin-Goltz syndrome seems promising with resolution of the keratocystic odontogenic tumors and increase in anti-tumor signaling.

Residents and Fellows contest golhz International Ophthalmologists contest rules.

Gorlin-Goltz syndrome

To summarize,it can be said that Gorlin-Goltz syndrome is a dominant autosomal genetic process, which is of particular interest to the oral and maxillofacial health experts.

This is an open access article distributed under the Creative Commons Attribution Licensewhich permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The golltz of keratocyst. Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo nucleic acid analysis.


Review of cases for recurrence and clinicopathologic parameters.

A case of Gorlin-Goltz syndrome is presented here in which the abovementioned findings are evident. Please review our privacy policy. Multiple odontogenic keratocysts OKCmild mandibular prognathism, frontal and temporoparietal bossing, kyphoscoliosis or other vertebral defects, bifurcated ribs, spina bifida, and brachymetacarpalism.

In certain occasions, a tall syndrime and even similar characteristics to acromegaly have been associated with the syndrome.

Mental retardation, dural calcification, bridging of sella, agenesis of corpus callosum, congenital hydrocephalus, occurrence of medulloblastoma. Nil, Conflict of Interest: Individuals with the syndrome are sensitive to ionizing radiation, with one study showing accumulation of p53 in exposed cells 3.

The aggressive nature of odontogenic keratocyst. Bulging gorlinn sella turcica, vertebral anomalies such as hemi vertebrae, fusion or elongation of vertebral bodies, modeling defects of the hands and feet, or flame-shaped hands or feet.

July 10, Manuscript accepted on: Gorlin-Goltz syndrome is an autosomal dominant disorder with a high penetrance and variable expressivity. The Academy uses ogltz to analyze performance and provide relevant personalized content to users of our website. Incidence of the Gorlin-Goltz syndrome is estimated syndromee 1 in 50, toin the general population. On an average, the incidence of Gorlin-Goltz syndrome has been reported to be 1 in 50, toin general population. Not many cases have been reported in India, and hence we report here a rare case and importance of multidisciplinary approach in management of the syndrome.

Gorlin’s syndrome – radiographic and CT manifestations. There are immunochemical differences between syndromal and solitary keratocysts. Recurrence of this lesion syjdrome most characteristic. No skin lesion in the form of basal cell nevus, palmar or plantar pits, or keratosis were present. From Wikipedia, the free encyclopedia. Is it a benign cystic neoplasm?

Back to top