Multiple odontogenic keratocysts associated with Gorlin-Goltz syndrome

Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder with a predisposition to cancer. Features like basal cell carcinoma, odontogenic keratocysts, calcification of falx cerebri, bifid ribs, pits on palms and soles and hypertelorism are evident. A case of this rare disease seen on a 13 year old female patient is presented here, where multiple odontogenic keratocysts were causing disfigurement of the lower jaw as well as displacement and malocclusion of the lower teeth. Key words: Nevoid basal cell carcinoma syndrome; Gorlin-Goltz syndrome; Odentogenic keratocyst; Calcification of falx cerebri. DOI: 10.3126/kumj.v7i4.2765 Kathmandu University Medical Journal (2009) Vol.7, No.4 Issue 28, 414-418

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Radiological Findings of Gorlin Syndrome-A Case Report

Nepalese Journal of Radiology ◽

10.3126/njr.v3i1.8821 ◽

2013 ◽

Vol 3 (1) ◽

pp. 94-98

Author(s):

S Maohakud ◽

G Sharma ◽

Hira Lal ◽

J Mohanty

Keyword(s):

Basal Cell ◽

Autosomal Dominant ◽

Sella Turcica ◽

Skin Lesions ◽

Chest Wall Deformity ◽

Radiological Findings ◽

Autosomal Dominant Disorder ◽

Falx Cerebri ◽

Goltz Syndrome ◽

Basal Cell Carcinomas

Basal cell nevus (Gorlin-Goltz) syndrome is a rare autosomal dominant disorder with multiple developmental anomalies and predisposition to various neoplasms. We present a 60 year old male with pigmented, ulcerated skin lesions in face, neck and trunk, histologically proved to be basal cell carcinomas. Mild exopthalmos, hypertelorism, chest wall deformity & scoliosis were noted. Radiological imaging showed calcification of falx cerebri & tentorium cerebelli, bridging of sella turcica, right third, fourth and fifth bifid ribs, scoliosis of lumbar spine, odontogenic keratocyst of mandible and flame shaped lucencies in hands. Nepalese Journal of Radiology / Vol.3 / No.1 / Issue 4 / Jan-June, 2013 / 94-98 DOI: http://dx.doi.org/10.3126/njr.v3i1.8821

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Gorlin-Goltz Syndrome: A Familial Case Report

Dental Research and Management ◽

10.33805/2572-6978.144 ◽

2020 ◽

pp. 42-45

Author(s):

Hugo Romero ◽

Charlotte Medina Montoya ◽

Hernan Enrique Yanes Moya ◽

Vilma Umanzor

Keyword(s):

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Basal Cell ◽

Familial Case ◽

Lower Percentage ◽

Clinical Aspects ◽

Degree Relative ◽

Autosomal Dominant Disorder ◽

Goltz Syndrome ◽

The Family

Gorlin-Goltz Syndrome (GGS) also known as Nevoid Basal Cell Carcinoma Syndrome is a rare autosomal dominant disorder. Is characterized for presenting some clinical features such as palmar pits, fused eyebrows, multiple odontogenic keratocyst, which are considered some of the most common signs. In our case, a rare familial case highlights awareness when a member of the family is diagnosed with this condition, and the probability to find in one the first degree relative. Once again it is confirmed that is impossible to determine without the radiographical analysis such as Cone Beam Computed Tomography (CBCT), ortophantomography, magnetic resonance imaging, to corroborate with clinical aspects, advising that, this could be the best way for the sake of patients benefit. Many treatments less aggressive have been proposed along the years, with a lower percentage of success against the traditional way, specifically surgical enucleation/marsupialization combined with peripheral osteotomy, in order to approach the variable behavior of nevoid basal cell carcinoma syndrome. The early diagnosis is considered the key to well manage this kind of disease, due to its aggressiveness, potential to become malignant, and in some cases, with a silent destructive pattern.

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Gorlin-Goltz Syndrome

Case Reports in Dentistry ◽

10.1155/2012/247239 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Padma Pandeshwar ◽

K. Jayanthi ◽

D. Mahesh

Keyword(s):

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Basal Cell ◽

Autosomal Dominant ◽

Skin Lesions ◽

Secondary Prophylaxis ◽

Appropriate Treatment ◽

Goltz Syndrome ◽

High Level ◽

Typical Skin

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in thePTCH(patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

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Gorlin syndrome - an incidental radiographic detection

South African Journal of Radiology ◽

10.4102/sajr.v15i1.340 ◽

2011 ◽

Vol 15 (1) ◽

pp. 18

Author(s):

Shishir Ram Shetty ◽

K M Veena ◽

Laxmikanth Chatra ◽

Prashanth Shenai ◽

Prasanna Kumar Rao ◽

...

Keyword(s):

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Basal Cell ◽

Autosomal Dominant ◽

Autosomal Dominant Disease ◽

Gorlin Syndrome ◽

Distinct Entity ◽

Radiological Features ◽

Goltz Syndrome ◽

Dominant Disease

Gorlin-Goltz syndrome (also known as nevoid basal cell carcinoma syndrome) was first reported in 1894, but described by Gorlin and Goltz in 1960 as a distinct entity consisting of ectodermal and mesodermal abnormalities. It is an hereditary autosomal dominant disease with a prevalence estimated in various studies to be between 1/57 000 and 1/256 000, and a male:female ratio of 1:1. We describe in brief the important radiological features of an accidentally detected case of Gorlin syndrome in the form of a pictorial interlude.

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Gorlin–Goltz Syndrome with Multidisciplinary Approach of Treatment

Annals of the National Academy of Medical Sciences (India) ◽

10.1055/s-0039-3402665 ◽

2019 ◽

Vol 55 (04) ◽

pp. 213-218

Author(s):

Jayachandran Sadaksharam ◽

Amutha Velappan Annapoorni

Keyword(s):

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Basal Cell ◽

Rare Case ◽

Multidisciplinary Approach ◽

Genetic Condition ◽

Odontogenic Keratocysts ◽

Goltz Syndrome ◽

Jaw Cyst ◽

Bifid Rib

AbstractGorlin–Goltz syndrome, is an uncommon genetic condition characterized by the presence of multiple odontogenic keratocysts of jaws along with several other abnormal, cutaneous, ophthalmic, and osseous displays. This syndrome is also acknowledged by various names, such as nevoid basal cell carcinoma syndrome, jaw cyst, and bifid rib syndrome. This article illustrates about the clinical, radiological, and histological diagnostic findings and the multidisciplinary approach of treatment given to one such rare case of Gorlin–Goltz syndrome.

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A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome

Cytogenetic and Genome Research ◽

10.1159/000487747 ◽

2018 ◽

Vol 154 (2) ◽

pp. 57-61 ◽

Cited By ~ 2

Author(s):

Ceren D. Durmaz ◽

Gareth Evans ◽

Miriam J. Smith ◽

Pelin Ertop ◽

Bengü N. Akay ◽

...

Keyword(s):

Basal Cell Carcinoma ◽

Cell Carcinoma ◽

Basal Cell ◽

Stop Codon ◽

Novel Mutation ◽

Premature Stop Codon ◽

Autosomal Dominant Disorder ◽

Falx Cerebri ◽

Skeletal Anomalies ◽

Basal Cell Carcinomas

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst. These clinical findings were compatible with the diagnosis of NBCCS, and a novel mutation, c.1249delC; p.Gln417Lysfs*15, was found in PTCH1 causing a premature stop codon.

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