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.

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.

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-Goltz Syndrome: Multiple Basal Cell Carcinoma, Bifid Rib, Palmar and Plantar Pits in a 50-Year-Old Woman

2020 ◽  
Vol 35 (1) ◽  
pp. 71-73
Author(s):  
Emilaine Balatibat ◽  
Benedick Borbe ◽  
Samantha Castañeda
Keyword(s):  
Basal Cell Carcinoma ◽  
Physical Examination ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Incidental Finding ◽  
Genetic Mutation ◽  
The Philippines ◽  
Goltz Syndrome ◽  
The Face ◽  
Bifid Rib

A 50-year-old single Filipino woman was referred to our clinic by the Dermatology Department due to multiple large nevi on the face. Her history started 29 years prior to consult when a 0.5 cm by 0.5 cm nevus appeared on her right lower eyelid. Excision of the mass and histopathology revealed basal cell carcinoma of the skin and she ceased followup visits. Meanwhile, progressively enlarging nevi appeared over multiple sites of her face. Some of the lesions developed ulceration and occasionally bled. Finally, she consulted again at our institution due to disfiguring multiple large nevi, and was seen by Dermatology and Ophthalmology services and underwent excision biopsy revealing basal cell carcinoma. She was then referred to us for definitive surgical management. The patient was a non-smoker, non-alcoholic beverage drinker and work did not undergo any prolonged sun exposure. She recalled that her mother had a similar condition and expired due to complications of the disease. Physical examination revealed many large nevi over multiple sites of the face, the largest over the left nasolabial area. (Figure 1A) There were hyperpigmented nevi over the central forehead and left infraorbital area, and the patient’s left eye was closed due to scarring from the previous excision in the left medial canthal area. (Figure 1B) An ulcerating lesion that occasionally bled, involved multiple subsites of the nose. (Figure 1C) Due to the recurrent multiple basal cell carcinoma on the face, we suspected a possible syndromic disease. Complete systemic physical examination revealed multiple nevi over the chest and back as well as plantar and palmar pits. (Figure 2A, B) Chest radiography revealed an incidental finding of a bifid third rib on the left. (Figure 3) With these findings, we diagnosed her condition as Gorlin-Goltz syndrome with multiple basal cell carcinoma on the face Our goal of treatment was complete excision of tumors with preservation of function and cosmesis. Following the National Comprehensive Cancer Network (NCCN) Guidelines1 surgical excision with frozen section for adequate margins was performed. (Figure 4) Reconstruction with multiple skin grafts was performed to cover the defects. However, graft failures were noted over multiple sites two weeks post-operatively. (Figure 5) Our patient continued to follow-up for a year but declined any offers of reconstructive surgery. She maintained a good disposition and was satisfied with her appearance despite a less than ideal aesthetic postoperative outcome. (Figure 6) DISCUSSION Nevoid Basal Cell Carcinoma or Gorlin-Goltz Syndrome is a rare autosomal dominant syndrome with near complete penetrance and extreme variable expressivity.2,3 This was first described in depth by Doctors Robert Gorlin and Robert Goltz in 1960. Genetic mutation in PTCH1 and SUFU that are related with the Hedgehog signalling pathway were identified in the pathogenesis of this disease.2 GorlinGoltz syndrome commonly presents with dermatologic, odontogenic and neurologic findings and affected patients have developmental anomalies and predisposition to cancer, specifically basal cell carcinoma (BCC). The incidence of Gorlin-Goltz syndrome ranges from 1 in 50,000 to 1 in 560,0004 with only one published case reported in the Philippines.5 To establish the diagnosis of Gorlin-Goltz syndrome, either one major and two minor criteria or two major criteria must be fulfilled.6,7 Our patient presented with multiple BCC, bifid third left rib and palmar and plantar pits, fulfilling three major criteria. Only 67% of patients diagnosed with Gorlin-Goltz syndrome present with basal cell carcinoma with an equal male to female ratio.8 The mean age of BCC presentation in Gorlin-Goltz syndrome is roughly 25 years old and the probability of developing increases with age.9 There are racial differences in the occurrence of BCC; higher in Caucasians than in African-Americans and Asians.6,8 However, BCC in patients diagnosed with Gorlin-Goltz syndrome have the same histology and presentation as sporadic cases. Palmar and plantar pits are among the common dermatologic findings in Gorlin-Goltz syndrome. These lesions are found in 45% to 87% of Gorlin-Goltz syndrome and the percentage rises with age.6 The presence of palmar and plantar pits in a child should prompt a complete physical evaluation due to its association with other diseases. A bifid or forked rib is a developmental abnormality in which the sternal end is cleaved in two. This may be asymptomatic and is oftentimes an incidental finding, and can be observed as an isolated defect or may be associated with other multisystem malformations. In the general population, it was reported to occur at 3 to 6.3 per 1,000.10 Among the rib anomalies, bifid rib occurs in 28% of cases.11 In GorlinGoltz syndrome, it occurs in 36.4% of cases.12 Gorlin-Goltz Syndrome has a wide spectrum of presentations varying from livable symptoms until adulthood to detrimental complications even during childhood. Since this is a genetic mutation, there is no cure for disease and treatment is symptomatic. In our case, there is higher chance of recurrence or new lesions that may require multiple surgical procedures in the future. Other lesions associated with this syndrome may still appear and immediate consultation is advised to prevent complications. Genetic counselling is highly advised since it has high inheritance. In summary, our experience taught us that a high index of suspicion for syndromic disease and a complete physical examination are especially important in such cases. The diagnosis and management are challenging, and should consider the biopsychosocial context of the patient. As long as full disclosure of the condition is made and all options are clearly communicated, the patient’s wishes should be respected.

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

scholarly journals A Rare Case of a Symptomatic Tumor Found in the Groin Area: An Atypical Location Unexposed to the Known Causes

2015 ◽  
Vol 8 (3) ◽  
pp. 536-539
Author(s):  
Ellen Toyonaga ◽  
Hiroo Hata ◽  
Chihiro Nakayama ◽  
Erina Homma ◽  
Toshiyuki Miyashita ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Early Onset ◽  
Rare Case ◽  
Gorlin Syndrome ◽  
Developmental Abnormalities ◽  
Wide Range ◽  
First Onset ◽  
Hereditary Condition

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The syndrome consists of early-onset and/or multiple BCC. Herein we report a rare NBCCS case in which the first BCC onset occurred in the groin area. To the best of our knowledge, there have been no reports of first-onset BCC in the groin area in an NBCCS patient of any race.

Podoplanin Expression in Odontogenic Keratocysts Associated or not Associated With Nevoid Basal Cell Carcinoma Syndrome

2019 ◽  
Vol 28 (7) ◽  
pp. 513-517
Author(s):  
Giulia G. Malaguez ◽  
Etiene A. Munhoz ◽  
Elena R.C. Rivero ◽  
Pantelis V. Rados ◽  
Marcia G. Oliveira
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Odontogenic Keratocysts ◽  
Podoplanin Expression

Confocal and dermoscopic features of basal cell carcinoma in Gorlin-Goltz syndrome: A case report

2016 ◽  
Vol 58 (2) ◽  
pp. e48-e50 ◽  
Author(s):  
Alice Casari ◽  
Giuseppe Argenziano ◽  
Elvira Moscarella ◽  
Aimilios Lallas ◽  
Caterina Longo
Keyword(s):  
Case Report ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Goltz Syndrome
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