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

Immunolocalization of PTCH Protein in Odontogenic Cysts and Tumors

2002 ◽  
Vol 81 (11) ◽  
pp. 757-760 ◽  
Author(s):  
D.C. Barreto ◽  
A.E. Bale ◽  
L. De Marco ◽  
R.S. Gomez
Keyword(s):  
Basal Cell ◽  
Tumor Suppression ◽  
Protein Product ◽  
Odontogenic Tumors ◽  
Odontogenic Cysts ◽  
Odontogenic Keratocysts ◽  
Basal Cell Carcinomas ◽  
Different Types ◽  
Embryologic Development

The human patched gene ( PTCH) functions in both embryologic development and tumor suppression. PTCH mutations have been found in odontogenic keratocysts. However, the expression and localization of the protein product of the gene have not been determined in odontogenic tumors and cysts. We investigated 68 odontogenic lesions by immunohistochemistry, and compared their PTCH expression with that in basal cell carcinomas. All odontogenic lesions, including two keratocysts with truncating mutations, were positive for PTCH. Different types of lesions had different amounts of staining. Lack of staining was noted in the majority of basal cell carcinomas. Taken together, these data suggest that odontogenic keratocysts arise with heterozygous mutations of the PTCH gene.

Hundreds of basal cell carcinomas in a Gorlin-Goltz syndrome patient cured with imiquimod 5% cream

2006 ◽  
Vol 0 (0) ◽  
pp. 060606032107056-??? ◽  
Author(s):  
JR Ferreres ◽  
A Macaya ◽  
A Jucgla ◽  
C Muniesa ◽  
C Prats ◽  
...  
Keyword(s):  
Basal Cell ◽  
Syndrome Patient ◽  
Goltz Syndrome ◽  
Basal Cell Carcinomas

Multiple Basal Cell Carcinomas in a 38-Year-Old Woman with Goltz Syndrome

Dermatology ◽  
2012 ◽  
Vol 224 (2) ◽  
pp. 97-100
Author(s):  
Annalisa Patrizi ◽  
Michela Tabanelli ◽  
Karl-Heinz Grzeschik ◽  
Cosimo Misciali ◽  
Iria Neri ◽  
...  
Keyword(s):  
Basal Cell ◽  
Goltz Syndrome ◽  
Basal Cell Carcinomas ◽  
Multiple Basal Cell Carcinomas

scholarly journals A Rare Case of Gorlin-Goltz Syndrome in Children

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Fernanda Brasil Daura Jorge Boos Lima ◽  
Ana Paula Cota Viana ◽  
Luciano Henrique Ferreira Lima ◽  
Bruna Campos Ribeiro ◽  
Carlos Eduardo Assis Dutra ◽  
...  
Keyword(s):  
Basal Cell ◽  
Maxillofacial Surgery ◽  
Clinical Manifestations ◽  
Oral And Maxillofacial Surgery ◽  
Basal Cell Nevus Syndrome ◽  
Dental Eruption ◽  
Goltz Syndrome ◽  
Basal Cell Carcinomas ◽  
Ocular System ◽  
Dominant Condition

The Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome is an autosomal dominant condition disorder with high variability expression. It presents a series of relevant clinical manifestations that suggest its diagnosis in cutaneous, bone, dental, soft tissue, nervous, and ocular system disorders. This condition requires a great interaction of several specialists to improve the patient’s life. In this case, we presented a 9-year-old male patient referred to the Department of Oral and Maxillofacial Surgery reporting failure in the normal chronology of dental eruption. After evaluation, it was observed that the patient had 13 typical characteristics of the syndrome, including keratocysts, bifid ribs, palmoplantar pits, and 10 other minor characteristics. In conclusion, the expression of so many features of Gorlin-Goltz syndrome is rare in infants, and early diagnosis is important to decrease morbidity and mortality associated with basal cell carcinomas.

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 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

Dermatoscopic characteristics of acrochordon-like basal cell carcinomas in Gorlin-Goltz syndrome

2009 ◽  
Vol 60 (5) ◽  
pp. 857-861 ◽  
Author(s):  
Marta Feito-Rodríguez ◽  
Elena Sendagorta-Cudós ◽  
Marta Moratinos-Martínez ◽  
María José González-Beato ◽  
Raúl de Lucas-Laguna ◽  
...  
Keyword(s):  
Basal Cell ◽  
Goltz Syndrome ◽  
Basal Cell Carcinomas

scholarly journals Gorlin–Goltz Syndrome: Report of Two Cases

2017 ◽  
Vol 1 (1) ◽  
pp. 49-54
Author(s):  
Sandeep Garg ◽  
Rama Bharti ◽  
Govind Jindal ◽  
Supreet Kaur ◽  
Mehak Goyal ◽  
...  
Keyword(s):  
Maxillofacial Surgery ◽  
Preventive Treatment ◽  
Facial Dysmorphism ◽  
Oral And Maxillofacial Surgery ◽  
Falx Cerebri ◽  
Complete Penetrance ◽  
Odontogenic Keratocysts ◽  
Goltz Syndrome ◽  
Basal Cell Carcinomas ◽  
Syndrome Report

ABSTRACT Gorlin–Goltz syndrome is an uncommon autosomal dominant inherited disorder with complete penetrance and extreme variable expressivity. It is characterized by multiple odontogenic keratocysts and basal cell carcinomas; skeletal, dental, ophthalmic, and neurological abnormalities; intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Due to importance of oral maxillofacial manifestations of this syndrome, it is important to know its characteristics in order to make diagnosis and to provide an early preventive treatment. The purpose of this article is to present a report of two cases who reported to the Department of Oral and Maxillofacial Surgery, with features of Gorlin–Goltz syndrome in association with multiple odontogenic keratocysts in the maxillofacial region. How to cite this article Bharti R, Jindal G, Garg S, Kaur S, Goyal M, Gupta P. Gorlin–Goltz Syndrome: Report of Two Cases. Int J Clin Dent Res 2017;1(1):49-54.

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