Pseudo-Pseudo-Hypoparathyroidism and Basal-Cell Nevus Syndrome

1972 ◽  
Vol 21 (1-2) ◽  
pp. 94-98
Author(s):  
Luc Goeminne
Keyword(s):  
Spina Bifida ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Short Stature ◽  
Basal Cell ◽  
Spina Bifida Occulta ◽  
Congenital Muscular Torticollis ◽  
Basal Cell Nevus Syndrome ◽  
Bifid Rib ◽  
Muscular Torticollis

SummaryA case is described of pseudo-pseudo-hypoparathyroidism, with the following symptoms: round face, large forehead, relative backwardness, short stature, relative obesity, congenital muscular torticollis, cervical fused vertebrae, spina bifida occulta cervicalis, bifid rib, bilateral brachymetacarpy IV. Some of these also occur in the basal-cell nevus syndrome. The patient does not however show a basal-cell carcinoma, nor mandibula cysts.

Destructive Basal Cell Carcinoma in a Patient with Basal Cell Nevus Syndrome and an Interstitial Deletion of Chromosome 9q22

2009 ◽  
Vol 35 (12) ◽  
pp. 2051-2053 ◽  
Author(s):  
Klara Mosterd ◽  
Anja Sommer ◽  
Arienne van Marion ◽  
Martin Lacko ◽  
Jos Herbergs ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Interstitial Deletion ◽  
Basal Cell Nevus Syndrome ◽  
Chromosome 9Q22

scholarly journals Multiple Keratocysts of the Mandible in Association with Multiple Basal Epithelioma, Jaw Cysts and Bifid Rib Syndrome: A Rare Case Report

2014 ◽  
Vol 5 (1) ◽  
pp. 39-41
Author(s):  
Shahanavaj Imam Husen Khaji ◽  
Gayathri H Kulkarni ◽  
Harish S Kulkarni ◽  
Suryakant B Metkari ◽  
Reshma Kulkarni
Keyword(s):  
Case Report ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Rare Case ◽  
Odontogenic Tumor ◽  
Keratocystic Odontogenic Tumor ◽  
Jaw Cysts ◽  
Rare Case Report ◽  
Bifid Rib

ABSTRACT Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor (KCOT) has been the topic of numerous investigators and is known for its potentially aggressive behavior and significant rate of recurrences. Keratocystic odontogenic tumor often occurs as a solitary lesion, and in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid basal cell carcinoma, jaw cyst bifid rib basal cell nevus syndrome). Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular and cutaneous anomalies in the given clinical scenario which has profound relevance in the clinical dental practice. How to cite this article Kulkarni GH, Khaji SI, Kulkarni HS, Metkari SB, Kulkarni R. Multiple Keratocysts of the Mandible in Association with Multiple Basal Epithelioma, Jaw Cysts and Bifid Rib Syndrome: A Rare Case Report. Int J Head Neck Surg 2014;5(1):39-41.

Infundibulocystic Basal Cell Carcinoma of the Eyelid in Basal Cell Nevus Syndrome

2010 ◽  
Vol 26 (3) ◽  
pp. 147-152 ◽  
Author(s):  
Michel J. Belliveau ◽  
Dustin J. Coupal ◽  
Seymour Brownstein ◽  
David R. Jordan ◽  
Robert Prokopetz
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Basal Cell Nevus Syndrome

scholarly journals Basal cell carcinoma with flexural predilection in basal cell nevus syndrome

2021 ◽  
Vol 12 (3) ◽  
pp. 469
Author(s):  
Keshavamurthy Vinay ◽  
Raihan Ashraf ◽  
Akanksha Kaushik ◽  
Kirti Gupta
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Basal Cell Nevus Syndrome

scholarly journals Clues to primary vismodegib resistance lie in histology and genetics

2020 ◽  
Vol 73 (10) ◽  
pp. 678-680 ◽  
Author(s):  
Qisi Sun ◽  
Lihi Atzmony ◽  
Theodore Zaki ◽  
Albert Peng ◽  
Jeffrey Sugarman ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Genetic Analysis ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Malignant Neoplasm ◽  
Downstream Location ◽  
Basal Cell Nevus Syndrome ◽  
Suppressor Of Fused ◽  
Whole Exome ◽  
Histological Results

Basal cell carcinoma (BCC) is the most common human malignant neoplasm. However, there are multiple BCC subtypes that share clinical features while demanding different management. We present a case of a woman with hundreds of BCCs throughout her body that were resistant to vismodegib and without other features of basal cell nevus syndrome. Histological results of biopsies taken from various sites revealed three lesions characteristic of infundibulocystic BCCs (IBCCs) and two BCCs. Paired whole-exome sequencing performed using DNA isolated from blood and one of her IBCCs uncovered a germline heterozygous SUFU (Suppressor of Fused) mutation. The downstream location of SUFU in the hedgehog pathway explains why its mutation results in IBCCs that will not respond to any therapeutics that target upstream components of SUFU. These results capture the significance of histological and genetic analysis in directing treatment.

scholarly journals Basal Cell Nevus Syndrome Showing Several Histologic Types of Basal Cell Carcinoma

2011 ◽  
Vol 23 (Suppl 1) ◽  
pp. S36 ◽  
Author(s):  
Jae Wan Go ◽  
Shin Han Kim ◽  
Sang Yeop Yi ◽  
Han Kyoung Cho
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Basal Cell Nevus Syndrome ◽  
Histologic Types

Comment on Basal Cell Carcinoma Rebound After Cessation of Vismodegib in an Individual With Basal Cell Nevus Syndrome

2013 ◽  
Vol 39 (9) ◽  
pp. 1413-1414 ◽  
Author(s):  
Mina S. Ally ◽  
Ashley Wysong ◽  
Jean Y. Tang ◽  
Sumaira Aasi
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Basal Cell Nevus Syndrome

Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome

2017 ◽  
Vol 153 (2) ◽  
pp. 189 ◽  
Author(s):  
Daniel C. Solis ◽  
Gina P. Kwon ◽  
Katherine J. Ransohoff ◽  
Shufeng Li ◽  
Harvind S. Chahal ◽  
...  
Keyword(s):  
Risk Factors ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Basal Cell Nevus Syndrome

scholarly journals Gorlin–Goltz Syndrome with Multidisciplinary Approach of Treatment

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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