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.

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.

scholarly journals Optical Coherence Tomography of Peri-Ocular Skin Cancers: An Optical Biopsy

2020 ◽  
pp. 1-9
Author(s):  
Sabrina Bergeron ◽  
Bryan Arthurs ◽  
Debra-Meghan Sanft ◽  
Christina Mastromonaco ◽  
Miguel N. Burnier Jr.
Keyword(s):  
Squamous Cell Carcinoma ◽  
Optical Coherence Tomography ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Basal Cell ◽  
Skin Lesions ◽  
Sebaceous Carcinoma ◽  
Optical Coherence ◽  
Oct Imaging

<b><i>Introduction:</i></b> Optical coherence tomography (OCT) imaging has been used as a diagnostic tool for retinal disease for several years, and OCT apparatuses are becoming increasingly powerful. However, OCT has yet to reach its full potential in ophthalmology clinics. Alike retinal layers, it has been shown that OCT is able to generate cross-sectional images of the skin and allows visualization of skin lesions in a histopathology-like manner. <b><i>Objective:</i></b> We aim to validate OCT as an imaging modality for peri-ocular skin cancer. Through a series of cases, we highlight findings for 3 common eyelid malignancies: basal cell carcinoma, squamous cell carcinoma and sebaceous carcinoma. We propose an OCT image-based signature for basal cell carcinoma. <b><i>Methods:</i></b> This is a prospective study. Fifty-eight lesions suspicious of malignancy from 57 patients were subjected to OCT imaging prior to the surgical excision of the lesion. OCT images were analysed and scored according to previously identified OCT features. Eight representative examples are presented, highlighting the OCT patterns for each malignancy side by side to its corresponding histopathological sections. <b><i>Results:</i></b> Out of the 58 lesions analysed, 53 were malignant. A loss of the dermal-epidermal junction is observed in all malignant lesions. A strong link is observed between the presence of subepithelial hyporeflective nests on OCT and the diagnosis of basal cell carcinoma (present in 83% of cases). Conversely, lesions of epithelial origin such as squamous cell carcinoma are most often represented on OCT by acanthosis. Two supplementary cases, one basal cell carcinoma and one sebaceous carcinoma, are provided to illustrate how OCT imaging is a valuable tool in cases where clinical observations may be unusual. <b><i>Conclusions:</i></b> We provide evidence supporting the use of OCT for the evaluation of peri-ocular cancers. OCT enables visualization of the skin layers in vivo, before biopsy. Our results show that certain OCT features can contribute to include or exclude a diagnosis of basal cell carcinoma. By integrating this non-invasive imaging methodology into the routine assessment of peri-ocular skin lesions, especially in health care centres where access to specialists is limited, OCT imaging can increase clinical precision, reduce delays in patient referral and enhance patient care.

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

Co-Inheritance of Autosomal Dominant Polycystic Kidney Disease and Naevoid Basal Cell Carcinoma Syndrome: Effects on Renal Progression

Nephron ◽  
2018 ◽  
Vol 140 (4) ◽  
pp. 282-288 ◽  
Author(s):  
Maria Florencia Martínez ◽  
Luis Daniel Mazzuoccolo ◽  
Elisabet Mónica Oddo ◽  
Paula Virginia Iscoff ◽  
Carolina Muchnik ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Polycystic Kidney Disease ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Renal Progression ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals Single versus Multiple Level Sectioning for the Subtyping of Basal-Cell Carcinoma: A Retrospective Study

Dermatology ◽  
2019 ◽  
Vol 236 (3) ◽  
pp. 237-240 ◽  
Author(s):  
Lieke C.J. van Delft ◽  
Patty J. Nelemans ◽  
Myrurgia Abdul Hamid ◽  
Nicole W.J. Kelleners-Smeets
Keyword(s):  
Retrospective Study ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Primary Outcome ◽  
Punch Biopsy ◽  
Appropriate Treatment ◽  
Treatment Objective ◽  
Optimal Approach ◽  
Single Versus

Background: The histological subtype of basal-cell carcinoma (BCC) is often based on a punch biopsy; only a small part is evaluated, possibly leading to misclassification. Consensus on the optimal approach to process punch biopsies is lacking, though accurate subtyping is important for appropriate treatment. Objective: The aim is to investigate whether evaluating 4 levels of a punch biopsy instead of 1 or 2 levels leads to more accurate subtyping of BCC. Methods: In a retrospective study we evaluated 87 punch biopsies of histologically confirmed BCCs. The primary outcome was the proportion of “more aggressive” BCCs (nonsuperficial vs. superficial, infiltrative vs. nodular subtype) that was missed by evaluation on 1 or 2 levels, using 4-level diagnosis as reference standard. Results: Eighty-five cases were available for analysis. Subtyping based on 1 level resulted in discrepancies with 4-level diagnosis in 16.5% of all cases. Underdiagnosis occurred in 14 of 58 nonsuperficial BCCs (24.1%, 95% CI: 13.9–37.2). Seven of 38 nodular BCCs (18.4%, 95% CI: 7.74–34.3) were diagnosed as superficial in 1 level, and 7 of 20 infiltrative BCCs (35%, 95% CI: 15.4–59.2) were diagnosed as superficial (n = 2) or nodular (n = 5) in 1 level. Conclusion: In order to maximize correct subtyping and plan appropriate treatment, we advise to evaluate at least 2, but preferably more, levels of a punch biopsy to determine the BCC subtype.

scholarly journals Mice with a Targeted Mutation of Patched2 Are Viable but Develop Alopecia and Epidermal Hyperplasia

2006 ◽  
Vol 26 (17) ◽  
pp. 6609-6622 ◽  
Author(s):  
Erica Nieuwenhuis ◽  
Jun Motoyama ◽  
Paul C. Barnfield ◽  
Yoshiaki Yoshikawa ◽  
Xiaoyun Zhang ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Genetic Disorder ◽  
Skin Lesions ◽  
Hair Follicles ◽  
Limb Bud ◽  
Epidermal Hyperplasia ◽  
Phenotypic Analysis ◽  
Developmental Abnormalities

ABSTRACT Hedgehog (Hh) signaling plays pivotal roles in tissue patterning and development in Drosophila melanogaster and vertebrates. The Patched1 (Ptc1) gene, encoding the Hh receptor, is mutated in nevoid basal cell carcinoma syndrome, a human genetic disorder associated with developmental abnormalities and increased incidences of basal cell carcinoma (BCC) and medulloblastoma (MB). Ptc1 mutations also occur in sporadic forms of BCC and MB. Mutational studies with mice have verified that Ptc1 is a tumor suppressor. We previously identified a second mammalian Patched gene, Ptc2, and demonstrated its distinct expression pattern during embryogenesis, suggesting a unique role in development. Most notably, Ptc2 is expressed in an overlapping pattern with Shh in the epidermal compartment of developing hair follicles and is highly expressed in the developing limb bud, cerebellum, and testis. Here, we describe the generation and phenotypic analysis of Ptc2 tm1/tm1 mice. Our molecular analysis suggests that Ptc2 tm1 likely represents a hypomorphic allele. Despite the dynamic expression of Ptc2 during embryogenesis, Ptc2 tm1/tm1 mice are viable, fertile, and apparently normal. Interestingly, adult Ptc2 tm1/tm1 male animals develop skin lesions consisting of alopecia, ulceration, and epidermal hyperplasia. While functional compensation by Ptc1 might account for the lack of a strong mutant phenotype in Ptc2-deficient mice, our results suggest that normal Ptc2 function is required for adult skin homeostasis.

Sign in / Sign up

Export Citation Format

Share Document