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 Imiquimod 5% cream in the treatment of superficial and nodular basal cell carcinomas: study of 10 cases

2002 ◽  
Vol 77 (6) ◽  
pp. 693-698 ◽  
Author(s):  
Cyro Festa Neto
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Topical Treatment ◽  
Imiquimod Cream ◽  
Basal Cell Carcinomas ◽  
Different Types

BACKGROUND: Topical treatment with 5% imiquimod cream has been demonstrated to be effective in patients with basal cell carcinoma. OBJECTIVES: In the present study, efficacy and tolerability of this treatment was analyzed in 10 patients with 13 different types of superficial and nodular basal cell carcinomas. METHODS: Imiquimod cream was applied daily for a mean period of 23 days. RESULTS AND CONCLUSIONS: All patients responded favorably to the drug with healing of the lesions. No recurrence was observed during two to three months of follow up.

scholarly journals Basal Cell Carcinomas in Gorlin Syndrome: A Review of 202 Patients

2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Elizabeth A. Jones ◽  
Mohammed Imran Sajid ◽  
Andrew Shenton ◽  
D. Gareth Evans
Keyword(s):  
Basal Cell ◽  
Early Life ◽  
Disease Burden ◽  
Autosomal Dominant ◽  
Gorlin Syndrome ◽  
Developmental Defects ◽  
Basal Cell Carcinomas ◽  
Males And Females ◽  
Multiple Basal Cell Carcinomas ◽  
Mutation Type

Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome) is a rare autosomal dominant syndrome caused by mutations in thePTCHgene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden.

scholarly journals Patched1 haploinsufficiency severely impacts intermediary metabolism in the skin of Ptch1+/−/ODC transgenic mice

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Changzhao Li ◽  
Bharat Mishra ◽  
Mahendra Kashyap ◽  
Zhiping Weng ◽  
Shaida A. Andrabi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Tricarboxylic Acid Cycle ◽  
Normal Skin ◽  
Tumor Development ◽  
Single Copy ◽  
Tricarboxylic Acid ◽  
Gorlin Syndrome ◽  
Autosomal Dominant Disorder ◽  
Basal Cell Carcinomas ◽  
Multiple Basal Cell Carcinomas

Abstract The study of dominantly heritable cancers has provided insights about tumor development. Gorlin syndrome (GS) is an autosomal dominant disorder wherein affected individuals develop multiple basal cell carcinomas (BCCs) of the skin. We developed a murine model of Ptch1 haploinsufficiency on an ornithine decarboxylase (ODC) transgenic background (Ptch1+/−/ODCt/C57BL/6) that is more sensitive to BCCs growth as compared with Ptch1+/+/ODCt/C57BL/6 littermates. Ptch1+/−/ODCt/C57BL/6 mice show an altered metabolic landscape in the phenotypically normal skin, including restricted glucose availability, restricted ribose/deoxyribose flow and NADPH production, an accumulation of α-ketoglutarate, aconitate, and citrate that is associated with reversal of the tricarboxylic acid cycle, coupled with increased ketogenic/lipogenic activity via acetyl-CoA, 3-hydroybutyrate, and cholesterol metabolites. Also apparent was an increased content/acetylation of amino-acids, glutamine and glutamate, in particular. Accordingly, metabolic alterations due to a single copy loss of Ptch1 in Ptch1+/−/ODCt/C57BL/6 heterozygous mice may provide insights about the cancer prone phenotype of BCCs in GS patients, including biomarkers/targets for early intervention.

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 Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Shoko Onodera ◽  
Nana Morita ◽  
Yuriko Nakamura ◽  
Shinichi Takahashi ◽  
Kazuhiko Hashimoto ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Somatic Mutations ◽  
Enrichment Analysis ◽  
Sequencing Analysis ◽  
Gorlin Syndrome ◽  
Driver Genes ◽  
Aged Patients ◽  
Basal Cell Carcinomas

Abstract Background Basal cell carcinoma (BCC) is the most commonly occurring neoplasm in patients with Gorlin syndrome. It is widely accepted that multiple basal cell carcinomas simultaneously develop in middle-aged patients with this syndrome. However, the presence of driver genes other than the PTCH1 in Gorlin syndrome has not been explored. This study aimed to identify common gene mutations other than PTCH1 in simultaneously occurring basal cell carcinomas in patients with Gorlin syndrome via exome sequencing analysis. Methods Next-generation sequencing analysis was performed using four basal cell carcinoma samples, one dental keratinocyte sample, and two epidermoid cyst samples, which were surgically resected from one patient with Gorlin syndrome on the same day. Results Overall, 282 somatic mutations were identified in the neoplasms. No additional somatic mutations in PTCH1, PTCH2, TP53, and SMO were identified. However, enrichment analysis showed that multiple genes, such as IFT172 and KIFAP3, could regulate ciliary functions important for Hedgehog signaling. Conclusion The development of BCCs in patients with Gorlin syndrome may be triggered by mutations that cause substantial dysfunction of cilia.

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

A rare presentation of multiple scrotal basal cell carcinomas secondary to Gorlin’s syndrome

2019 ◽  
pp. 205141581987292
Author(s):  
Pat Rohan ◽  
Christine Shilling ◽  
Nigam Shah ◽  
Padraig Daly ◽  
Ivor Cullen
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Locally Advanced ◽  
The Body ◽  
High Rate ◽  
De Novo Mutation ◽  
Gorlin Syndrome ◽  
Increased Risk ◽  
Basal Cell Carcinomas

Basal cell carcinoma is the most commonly occurring cancer worldwide but it is rarely seen in non-sun-exposed areas of the body such as the scrotum.1 Basal cell carcinomas account for 5–10% of all scrotal tumours.2,3 Scrotal basal cell carcinoma is considered more aggressive with higher rates of metastasis versus non-scrotal basal cell carcinoma.1 Gorlin syndrome or nevoid basal cell carcinoma syndrome is an autosomal dominant condition characterised by the development of multiple basal cell carcinomas at a young age.4,5 Prevalence of nevoid basal cell carcinoma syndrome is reported to range from 1 in 57,000 to 1 in 164,000.5 We present the case of a 58-year-old gentleman with a 3-month history of bleeding scrotal and penile lesions. These lesions were excised with 2 cm margins and without complication. Histology showed surface ulceration with basaloid infiltrating tumour extending into the dermis. Given the potential for a very high rate of tumour occurrence within individuals, surgical management of basal cell carcinomas can result in significant, lifestyle-limiting disfigurement.5 As understanding of the pathogenesis of nevoid basal cell carcinoma syndrome has advanced, a number of targeted therapies have been developed.5 Vismodegib targets the Hedgehog signalling pathway and is used in the treatment of locally advanced and metastatic basal cell carcinomas. This represents a rare case of basal cell carcinoma of the scrotum associated with nevoid basal cell carcinoma syndrome caused by a de novo mutation. It is not clear from the literature whether incidence of scrotal tumours is increased in Gorlin syndrome but given the increased risk of basal cell carcinoma elsewhere, it may be prudent for those with known Gorlin syndrome to regularly examine the scrotal skin along with recommended frequent dermatologic surveillance. Level of evidence: 5.

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 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.

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