scholarly journals Gorlin syndrome - an incidental radiographic detection

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.

scholarly journals Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome

2004 ◽  
Vol 6 (6) ◽  
pp. 495-502 ◽  
Author(s):  
Virginia E Kimonis ◽  
Sarju G Mehta ◽  
John J Digiovanna ◽  
Sherri J Bale ◽  
Behram Pastakia
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Gorlin Syndrome ◽  
Radiological Features

scholarly journals Gorlin-Goltz Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
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.

scholarly journals Multiple odontogenic keratocysts associated with Gorlin-Goltz syndrome

1970 ◽  
Vol 7 (4) ◽  
pp. 414-418
Author(s):  
S Dixit ◽  
S Acharya ◽  
PB Dixit
Keyword(s):  
Medical Journal ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Falx Cerebri ◽  
Lower Jaw ◽  
Odontogenic Keratocysts ◽  
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

scholarly journals Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Yoji Nakase ◽  
Atsuko Hamada ◽  
Naoya Kitamura ◽  
Tsuyoshi Hata ◽  
Shigeaki Toratani ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Tumor Formation ◽  
Gorlin Syndrome ◽  
Transmembrane Region ◽  
Developmental Abnormalities ◽  
Patched 1

AbstractNevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant manner and is characterized by a combination of developmental abnormalities and a predisposition to tumor formation. Hedgehog receptor Patched 1 (PTCH1) has been identified as the mutated gene in NBCCS. We identified the PTCH1_c.3298_3299insAAG_p.1099_1100insE mutation in the transmembrane region, which comprises a sterol transporter whose abnormal function is reportedly related to pathogenicity.

Exceptional Bone Metastasis of Basal Cell Carcinoma in Gorlin-Goltz Syndrome

Dermatology ◽  
2010 ◽  
Vol 220 (1) ◽  
pp. 57-59 ◽  
Author(s):  
Tatiana Lamon ◽  
Stephane Gerard ◽  
Nicolas Meyer ◽  
Benjamin Losfeld ◽  
Gabor Abellan van Kan ◽  
...  
Keyword(s):  
Bone Metastasis ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Goltz Syndrome

Co-Inheritance of Autosomal Dominant Polycystic Kidney Disease and Naevoid Basal Cell Carcinoma Syndrome: Effects on Renal Progression

Nephron ◽  
2018 ◽  
Vol 140 (4) ◽  
pp. 282-288 ◽  
Author(s):  
Maria Florencia Martínez ◽  
Luis Daniel Mazzuoccolo ◽  
Elisabet Mónica Oddo ◽  
Paula Virginia Iscoff ◽  
Carolina Muchnik ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Polycystic Kidney Disease ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Renal Progression ◽  
Autosomal Dominant Polycystic Kidney

Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome

2008 ◽  
Vol 105 (6) ◽  
pp. e10-e13 ◽  
Author(s):  
Behnam Eslami ◽  
Carol Lorente ◽  
David Kieff ◽  
Paul A. Caruso ◽  
William C. Faquin
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Gorlin Syndrome
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