1,071 results match your criteria Oral Nevi


An enigma of Gorlin-Goltz syndrome: Two cases reported in mother and daughter.

J Oral Maxillofac Pathol 2019 Feb;23(Suppl 1):115-121

Department of Oral and Maxillofacial Surgery, Haldia Institute of Dental Sciences and Research, West Bengal University of Health Sciences, Haldia, West Bengal, India.

Gorlin-Goltz syndrome (GGS) also known as the nevoid basal cell carcinoma syndrome or the nevus-Bifid rib syndrome is an inherited autosomal dominant syndrome. It is caused by genetic alteration produced by a mutation in the "patched" tumor suppressor gene. This rare syndrome is characterized by basal cell carcinoma of skin, multiple odontogenic keratocyst and bifid ribs along with other features such as hypertelorism, sex organ abnormalities, palmar and/or plantar pits and calcification of falx cerebri. Read More

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http://dx.doi.org/10.4103/jomfp.JOMFP_160_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421933PMC
February 2019
1 Read

A novel mutation in basal cell nevus syndrome with rare craniofacial features.

Hum Genome Var 2019 2;6:16. Epub 2019 Apr 2.

1Department of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of Dentistry, Suita, Japan.

Basal cell nevus syndrome (BCNS) is a rare, multisystem, autosomal dominant disorder that is characterized by various phenotypes, including multiple basal cell carcinomas of the skin, odontogenic keratocysts of the jaws, and occasionally cleft lip and/or palate. In this report, we describe a 6-year-old Japanese girl with a novel heterozygous nonsense mutation in who exhibited rare craniofacial phenotypes, such as oligodontia and a short-tooth root. Read More

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http://dx.doi.org/10.1038/s41439-019-0047-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445144PMC

Gorlin-Goltz Syndrome: A Case Report and Literature Review.

Cureus 2019 Jan 8;11(1):e3849. Epub 2019 Jan 8.

Oral and Maxillofacial Surgery, King Saud University, Riyadh, SAU.

Gorlin-Goltz syndrome (GGS) is an infrequent multisystemic disease with an autosomal dominant inherited disorder characterized by the presence of multiple keratocystic odontogenic tumors (KCOT) in the jaws, multiple basal cell nevi carcinomas, and skeletal abnormalities. Early diagnosis of Gorlin-Goltz syndrome is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported in Saudi Arabia. Read More

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http://dx.doi.org/10.7759/cureus.3849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411325PMC
January 2019
2 Reads

Oral compound nevus: an unusual presentation.

Indian J Dermatol Venereol Leprol 2019 Mar 8. Epub 2019 Mar 8.

Department of Oral Medicine and Radiology, SVS Institute of Dental Sciences, Mahaboobnagar, Telangana, India.

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http://dx.doi.org/10.4103/ijdvl.IJDVL_676_18DOI Listing

Invasive melanoma in a 5-year-old Canadian patient: A case report.

SAGE Open Med Case Rep 2019 18;7:2050313X19829630. Epub 2019 Feb 18.

Division of Dermatology, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

Atypical Spitzoid lesions pose a distinct challenge in classification as they may comprise a mixture of both classic benign nevus and cutaneous melanoma characteristics. Immunostaining and molecular analysis, such as comparative genomic hybridization, can assist in narrowing the differential diagnosis. We present a case of a 5-year-old male with an atypical Spitzoid lesion on his back. Read More

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http://dx.doi.org/10.1177/2050313X19829630DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381421PMC
February 2019
2 Reads

Black and Brown Oro-facial Mucocutaneous Neoplasms.

Authors:
Easwar Natarajan

Head Neck Pathol 2019 Mar 29;13(1):56-70. Epub 2019 Jan 29.

Section of Oral and Maxillofacial Pathology, University of Connecticut Health Center, 263 Farmington Ave, MC-0925, Farmington, CT, 06030, USA.

Black and brown-colored mucocutaneous lesions present a differential diagnostic challenge, with malignant melanoma being the primary clinical concern. The vast majority of pigmented lesions in the head and neck region are the result of benign, reactive factors such as post-inflammatory melanosis. However, it is not uncommon to discover a range of muco-cutaneous black and brown neoplasms in the oro-facial area. Read More

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http://dx.doi.org/10.1007/s12105-019-01008-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406009PMC
March 2019
4 Reads

Frictional Keratosis, Contact Keratosis and Smokeless Tobacco Keratosis: Features of Reactive White Lesions of the Oral Mucosa.

Authors:
Susan Müller

Head Neck Pathol 2019 Mar 22;13(1):16-24. Epub 2019 Jan 22.

Atlanta Oral Pathology, Emory Decatur Hospital, Emory University School of Medicine, 2701 N. Decatur Road, Decatur, GA, 30033, USA.

White lesions of the oral cavity are quite common and can have a variety of etiologies, both benign and malignant. Although the vast majority of publications focus on leukoplakia and other potentially malignant lesions, most oral lesions that appear white are benign. This review will focus exclusively on reactive white oral lesions. Read More

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http://dx.doi.org/10.1007/s12105-018-0986-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405791PMC
March 2019
2 Reads

Corneal dysplastic melanosis associated with recurrent corneal erosions: A case report.

Medicine (Baltimore) 2018 Dec;97(51):e13367

Department of Ophthalmology, Seoul National University College of Medicine.

Rationale: Pigmented lesions of conjunctiva and cornea can be observed in various conditions, from the benign nevus to malignant melanoma. Pigmented acquired melanosis (PAM) is one of them, which is a neoplastic proliferation with malignant transformation potential of melanocytes. However, to our knowledge, there has been no report as to a disturbance of corneal barrier function caused by PAM. Read More

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http://dx.doi.org/10.1097/MD.0000000000013367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6319972PMC
December 2018
15 Reads

An Update of Gorlin-Goltz Syndrome.

Prim Dent J 2018 Sep;7(3):38-41

Gorlin-Goltz syndrome encompasses a variety of clinical signs and symptoms including important oral manifestations which general dental practitioners should be aware of. In light of the risk of malignancy it is important to be aware of this syndrome and recognise the need for early referral for multidisciplinary management. This paper aims to discuss Gorlin-Goltz syndrome, the pathophysiology of the condition and address the wide range of clinical manifestations. Read More

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September 2018
4 Reads

A Comparative Evaluation of Surgical, Electrosurgery and Diode Laser in the Management of Maxillofacial Nevus.

J Maxillofac Oral Surg 2018 Dec 6;17(4):547-556. Epub 2018 Feb 6.

2Department of Oral and Maxillofacial Surgery, A.C.P.M. Dental College and Hospital, Dhule, India.

Purpose: To compare the post-operative wound healing of patients treated for excision of the nevus/mole from maxillofacial region with surgical, electrosurgery and diode laser.

Materials And Methods: Forty-five clinically confirmed cases of benign nevus were included in the study and randomly divided into three groups according to the technique used for excision, i.e. Read More

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http://link.springer.com/10.1007/s12663-018-1081-8
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http://dx.doi.org/10.1007/s12663-018-1081-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181846PMC
December 2018
1 Read

Non syndromic synchronous multiple odontogenic keratocysts in a western Indian population: A series of four cases.

J Clin Exp Dent 2018 Aug 1;10(8):e831-e836. Epub 2018 Aug 1.

MDS, Assistant Professor, Department of Oral Pathology, RUHS College of Dental Sciences, Jaipur, Rajasthan, India.

Odontogenic keratocysts (OKCs) are developmental odontogenic cysts affecting the maxillofacial region and their association with a syndrome especially Naevoid basal cell carcinoma syndrome (NBCCS) is a common occurrence in comparison to non syndromic multiple OKCs. In a first, we present a series of four non syndromic cases with multiple OKCs in western Indian population. The presence of multiple OKC in our present case series may be because of the multifocal nature of the lesion rather than its association with any syndrome. Read More

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http://dx.doi.org/10.4317/jced.54616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174012PMC
August 2018
3 Reads

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

Br J Dermatol 2019 Jan 30;180(1):172-180. Epub 2018 Sep 30.

Department of Clinical Genetics, Arnaud de Villeneuve Hospital, University of Montpellier, Montpellier, France.

Background: Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological classification.

Objectives: To describe the dermatological manifestations of CFCS; to compare them with the literature findings; to assess those discriminating CFCS from other RASopathies, including Noonan syndrome (NS) and Costello syndrome (CS); and to test for dermatological phenotype-genotype correlations.

Methods: We performed a 4-year, large, prospective, multicentric, collaborative dermatological and genetic study. Read More

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http://doi.wiley.com/10.1111/bjd.17077
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http://dx.doi.org/10.1111/bjd.17077DOI Listing
January 2019
1 Read

Surgery for Blue Rubber Bleb Nevus Syndrome-a Case Report.

Indian J Surg 2018 Jun 19;80(3):272-274. Epub 2017 Dec 19.

Department of General Surgery ,TMCH, Thanjavur, India.

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterised by multiple venous malformations and haemangioma in the skin and visceral organs. The lesion often involves the cutaneous and gastrointestinal tract. Most common visceral organ affected is the GIT. Read More

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http://dx.doi.org/10.1007/s12262-017-1715-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014949PMC
June 2018
35 Reads

Pigmented lesions of the oral mucosa: A cross-sectional study of 458 histopathological specimens.

Oral Dis 2018 Nov 10;24(8):1484-1491. Epub 2018 Jul 10.

Department of Oral Pathology and Surgery, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

Objectives: To evaluate clinical, demographic, and histopathological characteristics of pigmented lesions of the oral mucosa.

Materials And Methods: A cross-sectional study was conducted over a 64-year period. Information was collected from medical charts, and all archived histopathological specimens with diagnoses of any pigmented lesion were retrieved. Read More

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http://dx.doi.org/10.1111/odi.12924DOI Listing
November 2018
4 Reads

A call to study orphan diseases.

Authors:
Faizan Alawi

Oral Surg Oral Med Oral Pathol Oral Radiol 2018 08 22;126(2):95-97. Epub 2018 May 22.

Associate Professor of Pathology, University of Pennsylvania, School of Dental Medicine, 240 South 40th Street, Room 328B, Philadelphia, PA 19104, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S22124403183093
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http://dx.doi.org/10.1016/j.oooo.2018.05.003DOI Listing
August 2018
2 Reads

Keratin 4 regulates the development of human white sponge nevus.

J Oral Pathol Med 2018 Jul 27;47(6):598-605. Epub 2018 May 27.

School of Dentistry, Hospital of Stomatology, Tianjin Medical University, Tianjin, China.

Background: The aim of this study was to investigate the roles of keratin 4 (KRT4) gene in the development of human white sponge nevus (WSN).

Methods: Transgenic mice were created using the microinjection method with pcDNA3.1 vectors expressing KRT4 wild-type (WT) gene and E520K mutation. Read More

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http://dx.doi.org/10.1111/jop.12728DOI Listing
July 2018
4 Reads

Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome: A literature review on this rare progeroid pathology.

Medicine (Baltimore) 2018 May;97(18):e0656

Department of Oral Surgery and Implantology, Catholic University of Sacred Heart of Rome, Gemelli Hospital.

Background: Mulvihill-Smith syndrome is a rare sporadic condition that was first recognized in 1975. A total of 11 cases have been described in the literature. The aim of this study was to describe the orofacial signs and dental anomalies, their frequency, and the relationship between Mulvihill-Smith syndrome and other progeroid syndromes via a review of the literature. Read More

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http://Insights.ovid.com/crossref?an=00005792-201805040-0005
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http://dx.doi.org/10.1097/MD.0000000000010656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392951PMC
May 2018
5 Reads

Retrospective Study on Laser Treatment of Oral Vascular Lesions Using the "Leopard Technique": The Multiple Spot Irradiation Technique with a Single-Pulsed Wave.

Photomed Laser Surg 2018 Jun 2;36(6):320-325. Epub 2018 May 2.

1 Department of Plastic and Reconstructive Surgery, Wakayama Medical University , Wakayama, Japan .

Objective: This study aimed to retrospectively evaluate the efficacy and safety of laser treatment of oral vascular lesions using the multiple spot irradiation technique with a single-pulsed wave.

Background Data: In laser therapy for vascular lesions, heat accumulation induced by excessive irradiation can cause adverse events postoperatively, including ulcer formation, resultant scarring, and severe pain. To prevent heat accumulation and side effects, we have applied a multiple pulsed spot irradiation technique, the so-called "leopard technique" (LT) to oral vascular lesions. Read More

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http://dx.doi.org/10.1089/pho.2017.4410DOI Listing
June 2018
11 Reads

Evaluation of Biodistribution of Sulforaphane after Administration of Oral Broccoli Sprout Extract in Melanoma Patients with Multiple Atypical Nevi.

Cancer Prev Res (Phila) 2018 Jul 24;11(7):429-438. Epub 2018 Apr 24.

UPMC Hillman Cancer Center, University of Pittsburgh, Pittsburgh, Pennsylvania.

Broccoli sprout extract containing sulforaphane (BSE-SFN) has been shown to inhibit ultraviolet radiation-induced damage and tumor progression in skin. This study evaluated the toxicity and potential effects of oral BSE-SFN at three dosages. Seventeen patients who each had at least 2 atypical nevi and a prior history of melanoma were randomly allocated to 50, 100, or 200 μmol oral BSE-SFN daily for 28 days. Read More

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http://cancerpreventionresearch.aacrjournals.org/lookup/doi/
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http://dx.doi.org/10.1158/1940-6207.CAPR-17-0268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030491PMC
July 2018
16 Reads

Solitary pigmented lesions in oral mucosa in Latin American children: A case series.

Pediatr Dermatol 2018 May 24;35(3):374-377. Epub 2018 Mar 24.

Department of Pathology and Oral Medicine, School of Dentistry, Oral Medicine Clinic, Universidad de Chile, Santiago, Chile.

Background: A variety of local and systemic processes caused exogenous and endogenous pigmentation of the oral mucosa. Solitary melanotic pigmentation is rare, hence the scarce number of studies in children and adolescents.

Methods: Clinical and histopathologic features of 10 Latin American children with solitary pigmented lesions of the oral mucosa were reviewed. Read More

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http://dx.doi.org/10.1111/pde.13465DOI Listing
May 2018
9 Reads

Functional and aesthetic reconstruction of a large upper lip defect using combined three local flaps: A case report.

Medicine (Baltimore) 2018 Mar;97(12):e0191

Department of Plastic and Aesthetic Surgery, Peking Union Medical College Hospital, Beijing, China.

Rationale: A significant clinical issue for treating patients with large upper lip defects is how to reconstruct the lip functionally and aesthetically. Traditional methods usually lead to asymmetry of the nasal base, philtrum and the lips.

Patient Concerns: A 22-year-old lady presented with a large congenital nevus on her upper lip which involved the cutaneous, vermilion, and the philtrum. Read More

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http://Insights.ovid.com/crossref?an=00005792-201803230-0003
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http://dx.doi.org/10.1097/MD.0000000000010191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895308PMC
March 2018
6 Reads

Acute primary angle-closure in Sturge-Weber syndrome.

Authors:
Wei-Wen Su

Am J Ophthalmol Case Rep 2018 Jun 8;10:101-104. Epub 2018 Feb 8.

Department of Ophthalmology, Chang Gung Memorial Hospital Linkou Branch, Taoyuan Taiwan, ROC.

Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by facial cutaneous venous dilatation (port-wine stain), leptomeningeal angioma, and ocular abnormalities. Here we report a case of SWS who experienced acute primary angle-closure in the same side of the nevus flammeus.

Observations: A 64-years-old female patient with SWS port wine stain on the left side of her face was referred to our ER for acute primary angle-closure (PAC). Read More

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http://dx.doi.org/10.1016/j.ajoc.2018.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849786PMC
June 2018
2 Reads

Acral Spitz Nevi: A Clinicopathologic Study of 50 Cases With Immunohistochemical Analysis of P16 and P21 Expression.

Am J Surg Pathol 2018 Jun;42(6):821-827

Department of Pathology, Western General Hospital and The University of Edinburgh, Edinburgh, UK.

Spitz nevi on acral sites are rare and poorly documented. The combination of Spitzoid cytomorphology and atypical architectural features of the junctional component may lead to an erroneous diagnosis of melanoma. To study the clinicopthologic and immunohistochemical features, 50 Spitz nevi localized on the distal extremities were retrieved from departmental files. Read More

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http://dx.doi.org/10.1097/PAS.0000000000001051DOI Listing
June 2018
2 Reads

Delayed Diagnosis of Gorlin-Goltz Syndrome: The Importance of the Multidisciplinary Approach.

J Craniofac Surg 2018 Sep;29(6):e530-e531

State University of Maringá, Maringá, Brazil.

Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant inherited disorder with high penetrance and variable expressivity. The classic triad originally described by Gorlin and Goltz in 1960 is composed of multiple nevoid basal cell carcinomas (NBCCs), odontogenic keratocysts (OKCs) in the jaws and bifid ribs. in 1977, this triad was modified by Rayner et al, and to GGS diagnosis, the OKCs had to appear in combination with calcification of the cerebellar falx or palmar and plantar pits. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004438DOI Listing
September 2018
9 Reads

Are oral mucosal nevi potential precursors for oral mucosal melanoma?

Oral Oncol 2018 Apr 28;79:83. Epub 2018 Feb 28.

Department of Oral Pathology and Microbiology, Sathyabama University Dental College and Hospital, Chennai, India. Electronic address:

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http://dx.doi.org/10.1016/j.oraloncology.2018.02.018DOI Listing
April 2018
7 Reads
3.610 Impact Factor

Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus.

Med Oral Patol Oral Cir Bucal 2018 Mar 1;23(2):e144-e150. Epub 2018 Mar 1.

Istanbul University, Faculty of Dentistry, Department of Oral Surgery, 34093 Capa, Istanbul, Turkey,

Background: Oral white sponge nevus (WSN) is a rare autosomal dominant benign condition, characterized by asymptomatic spongy white plaques. Mutations in Keratin 4 (KRT4) and 13 (KRT13) have been shown to cause WSN. Familial cases are uncommon due to irregular penetrance. Read More

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http://dx.doi.org/10.4317/medoral.21437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911358PMC

Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones.

Pathophysiology 2018 Jun 31;25(2):77-82. Epub 2018 Jan 31.

Department of Oral and Maxillofacial/Head and Neck Surgery, Louisiana State University Health Sciences Center, Shreveport, LA, United States; Chancellor and Dean, Louisiana State University Health Sciences Center, Shreveport, LA, United States.

In this article, we present three clinical case reports on Basal Cell Nevus Syndrome (Gorlin Syndrome). Gorlin syndrome is an inherited medical condition with challenges that manifest in multiple body systems and complicate early diagnosis. We examine the epidemiology of the disease and benefits of genetic testing, molecular pathophysiology, and advancement in the molecular-based therapy of Basal Cell Nevus syndrome. Read More

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http://dx.doi.org/10.1016/j.pathophys.2017.12.004DOI Listing
June 2018
7 Reads

Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome.

J Craniofac Surg 2018 May;29(3):e252-e255

Department of Oral and Maxillofacial Surgery, College of Medicine, University of Ulsan, Seoul Asan Medical Center, Seoul, Korea.

The purpose of this study was to report clinical characteristics, surgical results, and new PTCH1 gene mutations in nevoid basal cell carcinoma syndrome (NBCCS). Five patients were referred to the Department of Oral and Maxillofacial Surgery from local dental clinics between 2006 and 2016 to treat multiple keratocystic odontogenic tumors (KOTs). The cystic lesions were enucleated and peripheral ostectomy was performed to obtain safety margin. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004274DOI Listing
May 2018
4 Reads

Paediatric oral pathology in Thailand: a 15-year retrospective review from a medical teaching hospital.

Int Dent J 2018 Aug 28;68(4):227-234. Epub 2018 Jan 28.

Department of Pathology, Faculty of Medicine, Chulalongkorn University, Pathumwan, Bangkok, Thailand.

Objectives: To determine whether the spectrum of oral pathology in children seen at a medical institution differs from studies derived from dental facilities.

Methods: Oral biopsy records from paediatric patients (<16 years of age) were retrieved from the pathology archives at Chulalongkorn University Hospital over a period of 15 years. Lesions were categorised as inflammatory/reactive, tumour/tumour-like or cystic. Read More

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http://dx.doi.org/10.1111/idj.12380DOI Listing
August 2018
5 Reads

Incidence of diseases primarily affecting the skin by age group: population-based epidemiologic study in Olmsted County, Minnesota, and comparison with age-specific incidence rates worldwide.

Int J Dermatol 2018 Sep 29;57(9):1021-1034. Epub 2018 Jan 29.

Division of Clinical Dermatology, Mayo Clinic, Rochester, MN, USA.

Understanding the effects of age on the epidemiology of diseases primarily affecting the skin is important to the practice of dermatology, both for proper allocation of resources and for optimal patient-centered care. To fully appreciate the effect that age may have on the population-based calculations of incidence of diseases primarily affecting the skin in Olmsted County, Minnesota, and worldwide, we performed a review of all relevant Rochester Epidemiology Project-published data and compared them to similar reports in the worldwide English literature. Using the Rochester Epidemiology Project, population-based epidemiologic studies have been performed to estimate the incidence of specific skin diseases over the past 50 years. Read More

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http://dx.doi.org/10.1111/ijd.13904DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6064677PMC
September 2018
13 Reads

Dermatologic Lesions Submitted to an Oral and Maxillofacial Pathology Biopsy Service: An Analysis of 2487 Cases.

Head Neck Pathol 2018 Dec 16;12(4):493-499. Epub 2018 Jan 16.

Oral and Maxillofacial Pathology, University of Florida College of Dentistry, 1395 Center Drive, Room D8-6, Gainesville, FL, 32610, USA.

Skin lesions are often submitted to oral and maxillofacial pathology practices. The purpose of this study is to evaluate the frequency, distribution, variability, and composition of dermatologic lesions within a large oral and maxillofacial pathology biopsy service. An IRB-approved retrospective search of skin lesions diagnosed at University of Florida oral and maxillofacial pathology biopsy service between 1994 and 2015 was performed. Read More

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http://dx.doi.org/10.1007/s12105-018-0885-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232221PMC
December 2018
9 Reads

Nevus-like lesions on the lip and the foot.

Eur J Intern Med 2018 07 12;53:e6-e7. Epub 2018 Jan 12.

Ege University, Faculty of Medicine, Dermatology Department, Izmir, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.ejim.2017.12.017DOI Listing
July 2018
3 Reads

Absence of BRAFV600E mutation in odontogenic keratocysts.

J Oral Pathol Med 2018 Feb 11;47(2):186-191. Epub 2018 Jan 11.

Department of Pathology, Biological Sciences Institute, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil.

Background: Mutations in the patched 1 (PTCH1) gene are the main genetic alteration reported in sporadic and nevoid basal cell carcinoma-associated odontogenic keratocyst (OKC). Oncogenic mutations, including BRAFV600E, previously considered exclusive of malignant neoplasms have been reported in odontogenic tumors. Recently, a high frequency of BRAFV600E mutation has been reported in OKC. Read More

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http://doi.wiley.com/10.1111/jop.12671
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http://dx.doi.org/10.1111/jop.12671DOI Listing
February 2018
21 Reads

Reclassification and treatment of odontogenic keratocysts: A cohort study.

Braz Oral Res 2017 Dec 18;31:e98. Epub 2017 Dec 18.

Universidade de São Paulo - USP, School of Dentistry, Department of Oral & Maxillofacial Surgery, Traumatology and Prosthesis, São Paulo, SP, Brazil.

The odontogenic keratocyst (OKC) is a recurrent cyst that has been recently reclassified from an odontogenic tumor to an odontogenic cyst. The aim of the present study was to investigate its treatment and address issues related to its association with nevoid basal cell carcinoma syndrome (NBCCS). Lesions from the cohort of patients included in the present study consisted of 40 OKCs, of which 27 lesions were treated by enucleation (GE) and 13 underwent decompression (GD). Read More

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http://dx.doi.org/10.1590/1807-3107bor-2017.vol31.0098DOI Listing
December 2017
23 Reads

In vivo intraoral reflectance confocal microscopy of an amalgam tattoo.

Dermatol Pract Concept 2017 Oct 31;7(4):13-16. Epub 2017 Oct 31.

Dermatology Service, Memorial Sloan Kettering Cancer Center, Hauppauge, NY, USA.

The majority of oral pigmentations are benign lesions such as nevi, melanotic macules, melanoacanthomas or amalgam tattoos. Conversely, mucosal melanomas are rare but often lethal; therefore, excluding oral melanomas in this setting is crucial. Reflectance confocal microscopy is a non-invasive, in vivo imaging system with cellular resolution that has been used to distinguish benign from malignant pigmented lesions in the skin, and more recently in the mucosa. Read More

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http://dx.doi.org/10.5826/dpc.0704a04DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718120PMC
October 2017
9 Reads

Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to hedgehog-mediated osteogenic induction.

PLoS One 2017 31;12(10):e0186879. Epub 2017 Oct 31.

Department of Biochemistry, Tokyo Dental College, Tokyo, Japan.

Gorlin syndrome is an autosomal dominant inherited syndrome that predisposes a patient to the formation of basal cell carcinomas, odontogenic keratocysts, and skeletal anomalies. Causative mutations in several genes associated with the sonic hedgehog (SHH) signaling pathway, including PTCH1, have been identified in Gorlin syndrome patients. However, no definitive genotype-phenotype correlations are evident in these patients, and their clinical presentation varies greatly, often leading to delayed diagnosis and treatment. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0186879PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663396PMC
November 2017
28 Reads

Vismodegib in patients with advanced basal cell carcinoma: Primary analysis of STEVIE, an international, open-label trial.

Eur J Cancer 2017 11 5;86:334-348. Epub 2017 Nov 5.

Department of Oncology-Pathology, Karolinska University Hospital, Hospital Solma, 171 76, Stockholm, Sweden. Electronic address:

Background: The SafeTy Events in VIsmodEgib study (STEVIE, ClinicalTrials.gov, NCT01367665), assessed safety and efficacy of vismodegib-a first-in-class Hedgehog pathway inhibitor demonstrating clinical benefit in advanced basal cell carcinoma (BCC)-in a patient population representative of clinical practice. Primary analysis data are presented. Read More

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http://dx.doi.org/10.1016/j.ejca.2017.08.022DOI Listing
November 2017
14 Reads

Mutations in the genes for keratin-4 and keratin-13 in Swedish patients with white sponge nevus.

J Oral Pathol Med 2018 Feb 1;47(2):152-157. Epub 2017 Nov 1.

Department of Oral Medicine and Pathology, Institute of Odontology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

Background: White sponge nevus is a rare autosomal dominant disorder that affects the non-keratinised stratified squamous epithelium. Mutations in the genes that encode mucosa-specific keratin-4 and keratin-13 are strongly linked to the manifestation of white sponge nevus. This study involved mutational analysis of the genes encoding keratin-4 and keratin-13 in two Swedish families with white sponge nevus. Read More

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http://dx.doi.org/10.1111/jop.12652DOI Listing
February 2018
1 Read

Molecular analysis of keratocystic odontogenic tumor cell lines derived from sporadic and basal cell nevus syndrome patients.

Int J Oncol 2017 Dec 9;51(6):1731-1738. Epub 2017 Oct 9.

Department of Genetics, Hyogo College of Medicine, Nishinomiya, Hyogo 663-8501, Japan.

Keratocystic odontogenic tumor (KCOT) is a benign tumor often associated with basal cell nevus syndrome (BCNS). Mutations in Patched 1 (PTCH1), the Hedgehog (Hh) receptor, are responsible for BCNS. BCNS is distinguished by morphological anomalies and predisposition to benign and malignant tumors, including medulloblastoma, basal cell carcinoma, KCOT and ovarian fibromas. Read More

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https://www.spandidos-publications.com/10.3892/ijo.2017.4146
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http://dx.doi.org/10.3892/ijo.2017.4146DOI Listing
December 2017
6 Reads

White Sponge Nevus: Report of a Case and Review of the Literature.

Acta Med Iran 2017 Aug;55(8):533-535

Department of Dermatology, Psoriasis Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.

White sponge nevus is a rare benign autosomal dominant disorder with variable penetrance. It is characterized by asymptomatic white plaques affecting mainly the oral mucosa. Careful clinical and histopathological examination is indicated to exclude other more serious conditions presenting as oral white lesions. Read More

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August 2017
2 Reads

Basal cell nevus syndrome (Gorlin-Goltz syndrome): genetic predisposition, clinical picture and treatment.

Postepy Dermatol Alergol 2017 Aug 2;34(4):381-387. Epub 2017 Aug 2.

Department of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Medical College in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.

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http://dx.doi.org/10.5114/ada.2017.69323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560190PMC
August 2017
5 Reads

Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.

PLoS One 2017 15;12(9):e0184702. Epub 2017 Sep 15.

Department of Biochemistry, Tokyo Dental College, Tokyo, Japan.

Gorlin syndrome is a genetic disorder of autosomal dominant inheritance that predisposes the affected individual to a variety of disorders that are attributed largely to heterozygous germline patched1 (PTCH1) mutations. PTCH1 is a hedgehog (Hh) receptor as well as a repressor, mutation of which leads to constitutive activation of Hh pathway. Hh pathway encompasses a wide variety of cellular signaling cascades, which involve several molecules; however, no associated genotype-phenotype correlations have been reported. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0184702PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600381PMC
October 2017
8 Reads

A novel keratin 13 variant in a four-generation family with white sponge nevus.

Clin Case Rep 2017 09 29;5(9):1503-1509. Epub 2017 Jul 29.

Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands.

We report a novel KRT13 germ line variant that causes white sponge nevus (WSN) with mucosal dysplasia. Genital, vaginal, and cervical WSN were observed in four female patients, of whom two had premalignant cervical lesions at young age. Two of the 12 patients with oral WSN developed oral squamous cell carcinoma. Read More

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http://dx.doi.org/10.1002/ccr3.1073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582238PMC
September 2017
5 Reads

Oral melanoma and other pigmentations: when to biopsy?

J Eur Acad Dermatol Venereol 2018 Feb 14;32(2):209-214. Epub 2017 Sep 14.

Dermatology, Department of Experimental Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.

Oral pigmentations (OPs) are often neglected, although a meticulous examination of the oral cavity is important not only in the diagnosis of oral melanoma, but also for the detection of important clinical findings that may indicate the presence of a systemic disease. OPs may be classified into two major groups on the basis of their clinical appearance: focal and diffuse pigmentations, even though this distinction may not appear so limpid in some cases. The former include amalgam tattoo, melanocytic nevi, melanoacanthoma and melanosis, while the latter include physiological/racial pigmentations, smoker's melanosis, drug-induced hyperpigmentations, postinflammatory hyperpigmentations and OPs associated with systemic diseases. Read More

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http://dx.doi.org/10.1111/jdv.14574DOI Listing
February 2018
15 Reads

Wilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study.

J Am Acad Dermatol 2017 Nov 16;77(5):874-878. Epub 2017 Aug 16.

Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:

Background: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor.

Objective: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM).

Methods: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor. Read More

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http://dx.doi.org/10.1016/j.jaad.2017.06.014DOI Listing
November 2017
30 Reads

Dental, dermatological and radiographic findings in a case of Gorlin-Goltz Syndrome: report and review.

Pan Afr Med J 2017 7;27:96. Epub 2017 Jun 7.

Department of Prosthodontics School of Dental Sciences, KIMSDU, Karad, Maharashtra, India.

Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant disorder. The disease shows multiple organ involvement with variable clinical presentation. Thus a multidisciplinary approach is required for its prompt clinical diagnosis and management of this condition. Read More

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http://dx.doi.org/10.11604/pamj.2017.27.96.12025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5554634PMC
September 2017
9 Reads

Multiple Oral Deep Penetrating Nevi Extending to the Masseter and Buccal Fat Pad.

J Oral Maxillofac Surg 2017 Dec 1;75(12):2579-2592. Epub 2017 Jun 1.

Associate Professor, Department of Oral Pathology, Oral Cancer Research Institute, Yonsei University College of Dentistry, Seoul, Korea. Electronic address:

The deep penetrating nevus (DPN) is a rare benign melanocytic tumor often clinically and histopathologically mistaken for malignant melanoma (MM) and other nevus types. This report describes an extremely rare case of multiple lesions of a large DPN in the oral cavity with extensive infiltration to the minor salivary gland, buccal fat pad, buccinators, and masseter muscles, yet with preservation of the normal anatomic architecture. After receiving a diagnosis of MM in another hospital, the patient was at risk for receiving a wide excision that included the masticatory muscles, facial nerve, and overlying skin. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S02782391173060
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http://dx.doi.org/10.1016/j.joms.2017.05.026DOI Listing
December 2017
31 Reads

Sturge Weber Syndrome: A Case Study.

J Clin Diagn Res 2017 May 1;11(5):ZD12-ZD14. Epub 2017 May 1.

Postgraduate Student, Department of Oral Medicine and Radiology, Lenora Institute of Dental Sciences, Rajanagaram, Rajahmundry, Andhra Pradesh, India.

The aim of this case review was to touch upon the various clinical presentations and diagnostic features of Sturge-Weber syndrome (SWS) as seen in the dental/medical practice. Sturge-Weber syndrome is a rare congenital disorder that belongs to a group of disorders collectively known as the phakomatoses. The characteristic pathological elements of the disease include leptomeninges angioma extending out to cerebral cortex with angiomatous lesions on the same side and unilateral facial nevus that affects trigeminal nerve division. Read More

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http://dx.doi.org/10.7860/JCDR/2017/25593.9891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5483825PMC
May 2017
13 Reads

Sonographic screening for Wilms tumor in children with CLOVES syndrome.

Pediatr Blood Cancer 2017 Dec 19;64(12). Epub 2017 Jun 19.

Vascular Anomalies Center, Boston Children's Hospital, Boston, Massachusetts.

Background: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. Read More

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http://dx.doi.org/10.1002/pbc.26684DOI Listing
December 2017
30 Reads