scholarly journals Radiological Findings of Gorlin Syndrome-A Case Report

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

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

Gorlin-Goltz Syndrome and Neoplasms: A Case Study

2010 ◽  
Vol 35 (2) ◽  
pp. 203-206 ◽  
Author(s):  
Nilza Lopes ◽  
Eliana Caran ◽  
Maria Lucia Lee ◽  
Nasjla Saba Silva ◽  
André Caroli Rocha ◽  
...  
Keyword(s):  
Basal Cell ◽  
Facial Dysmorphism ◽  
Autosomal Dominant Disorder ◽  
Craniospinal Radiation ◽  
Goltz Syndrome ◽  
Basal Cell Carcinomas ◽  
Vertebral Anomalies ◽  
Multiple Basal Cell Carcinomas

Gorlin syndrome is a rare autosomal dominant disorder exhibiting high penetrance and variable expressivity. It is characterized by facial dysmorphism, skeletal anomalies, multiple basal cell carcinomas, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, vertebral anomalies and a variety of other malformations. Various neoplasms, such as medulloblastomas, meningiomas, ovarian and cardiac fibromas are also found in this syndrome. Objective: To describe a twelve-year-old patient with Gorlin-Goltz syndrome,with basal cell carcinomas and promyelocytic leukemia developed after receiving craniospinal radiation for a medulloblastoma. Bifid ribs as well as mandibular and maxillar OKC were also diagnosed. Conclusion:The patient with Gorlin-Goltz syndrome should receive close follow-up for early detection of malformations and malignant neoplasias.

scholarly journals Gorlin-Goltz Syndrome: Case Report of a Rare Hereditary Disorder

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Ashutosh Agrawal ◽  
Aditi Murari ◽  
Sunil Vutukuri ◽  
Arun Singh
Keyword(s):  
Case Report ◽  
Basal Cell ◽  
Health Professionals ◽  
Multidisciplinary Approach ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Complete Penetrance ◽  
Goltz Syndrome ◽  
Minor Criteria ◽  
Prompt Diagnosis

Introduction. Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity.Case Report. The present paper highlights the importance of diagnostic criteria and histopathology in early and prompt diagnosis which will lead to proper treatment and genetic counseling of the patient.Discussion. Gorlin-Goltz syndrome is about multisystem process comprising the triad of basal cell nevi, jaw keratocysts, and skeletal anomalies. A spectrum of other neurological, ophthalmic, endocrine and genital manifestations is known to be variably associated with this triad. Diagnosis of the syndrome is based on major and minor criteria.Conclusion. This paper emphasizes the importance of oral and maxillofacial health professionals in the early diagnosis of nevoid basal cell carcinoma syndrome and in a preventive multidisciplinary approach to provide a better prognosis to the patient.

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.

Radiotherapy in Gorlin Syndrome

2015 ◽  
Vol 20 (2) ◽  
pp. 159-162 ◽  
Author(s):  
Sarah Baker ◽  
Kurian Joseph ◽  
Patricia Tai
Keyword(s):  
Basal Cell Carcinoma ◽  
Literature Review ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Gorlin Syndrome ◽  
Autosomal Dominant Disorder ◽  
Comprehensive Literature Review ◽  
Basal Cell Carcinomas ◽  
Treatment Refractory

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant disorder with multiple manifestations including early onset of cutaneous basal cell carcinomas (BCCs). Radiotherapy has traditionally been contraindicated due to reports of BCC induction. We describe here a patient treated successfully with radiotherapy with no tumour induction at 57 months of follow-up. A comprehensive literature review of radiotherapy outcomes in patients with Gorlin syndrome suggests radiotherapy may be a feasible treatment option for adult patients with treatment refractory lesions or surgical contraindication.

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

2018 ◽  
Vol 154 (2) ◽  
pp. 57-61 ◽  
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.

scholarly journals Nevoid Basal-Cell Syndrome: literature review and case report in a family

1995 ◽  
Vol 113 (3) ◽  
pp. 917-921 ◽  
Author(s):  
Alfio José Tincani ◽  
Antônio Santos Martins ◽  
Ricardo Gomes Andrade ◽  
Edgar José Franco Mello Jr. ◽  
Marco Antônio Camargo Bueno
Keyword(s):  
Case Report ◽  
Basal Cell Carcinoma ◽  
Basal Cell ◽  
Skin Lesions ◽  
Definitive Treatment ◽  
Basal Cell Nevus Syndrome ◽  
X Ray ◽  
Goltz Syndrome ◽  
Basal Cell Carcinomas

The Nevoid Basal-Cell Carcinoma Syndrome (NBCC), or as it is also referred to, basal-cell nevus syndrome or Gorlin-Goltz syndrome, is characterized by multiple early-appearing basal cell carcinomas, keratocytosis of the mandible, and anomalies of the ocular, skeletal reproductive system. We describe four patients in the same family, all of them possessing a large number of skin tumors associated with other typical clinical and X-Ray anomalies of NBCC. The definitive treatment of NBCC has yet to be established, however, early diagnosis is very important as well as the periodical follow-up examination of ten patients, mainly due to the transformations in the skin lesions that may occur.

scholarly journals Multicystic Lesion in Jaws: A Rare Case Report on Gorlin-Goltz Syndrome

2018 ◽  
Vol 5 (2) ◽  
pp. 46-50
Author(s):  
Pradeep Acharya ◽  
Ashok Dongol ◽  
Anjani Kumar Yadav ◽  
Vivek Kumar Mahato ◽  
Rishikesh Pratap Sah ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Computed Tomography Scan ◽  
Medical Sciences ◽  
Medical College ◽  
Goltz Syndrome ◽  
Lytic Lesions ◽  
Basal Cell Carcinomas ◽  
Rare Case Report ◽  
Maxilla And Mandible ◽  
Tomography Scan

Background and Objectives: Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenickeratocysts (OKC) and basal cell carcinomas, skeletal, dental, ophthalmic and neurological abnormalities.Material and Methods: Thirteen years old male patient came with swelling of left maxilla obliterating buccal vestibule with pus discharge for 1 month. The orthopantomograph and computed tomography scan demonstrated multiple lytic lesions in maxilla and mandible.  Incisional biopsy was suggestive of odontogenickeratocyst (OKC). Besides multiple OKCs; bifid ribs, palmer pits and hypertelorism were present supporting for the diagnosis as Gorlin-Goltz Syndrome.Results: The classical treatment of KCOT with enucleation with curettage or resection would have resulted in significant morbidity. Therefore we first decompressed and then enucleated the cysts.Conclusion: Gorlin-Goltz syndrome is a rare entity and the multiple KCOT can be managed with decompression followed by enucleation.Janaki Medical College Journal of Medical Sciences (2017) Vol. 5(2): 46-50

scholarly journals Gorlin's Syndrome: Case Report and Management Protocol

2009 ◽  
Vol 12 (1) ◽  
pp. 61-64
Author(s):  
R Rosti ◽  
A Irem ◽  
H Kayserili ◽  
S Yalcin
Keyword(s):  
Case Report ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
The Body ◽  
Facial Appearance ◽  
Management Protocol ◽  
Gorlin’S Syndrome ◽  
Basal Cell Carcinomas ◽  
Gorlin's Syndrome ◽  
Multiple Basal Cell Carcinomas

Gorlin's Syndrome: Case Report and Management ProtocolGorlin's syndrome (GS) is a rare autosomal, dominant syndrome, characterized by multiple basal cell carcinomas, odontogenic keratocysts, a characteristic facial appearance, skeletal anomalies and malignancies of various organs throughout the body. We describe a 14-year-old girl with GS and propose a management protocol.

Expression of calretinin in odontogenic keratocysts and basal cell carcinomas: A study of sporadic and Gorlin-Goltz syndrome-related cases

2020 ◽  
Vol 45 ◽  
pp. 151472
Author(s):  
Anna Maria Cesinaro ◽  
Giammarco Burtini ◽  
Antonino Maiorana ◽  
Giulio Rossi ◽  
Mario Migaldi
Keyword(s):  
Basal Cell ◽  
Odontogenic Keratocysts ◽  
Goltz Syndrome ◽  
Basal Cell Carcinomas
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