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    Two intermittent vismodegib dosing regimens in patients with multiple basal-cell carcinomas (MIKIE): a randomised, regimen-controlled, double-blind, phase 2 trial.
    Lancet Oncol 2017 Feb 7. Epub 2017 Feb 7.
    Klinik für Dermatologie, Venereologie und Allergologie, Universitätsklinikum Essen, Essen, Germany.
    Background: Vismodegib, a first-in-class Hedgehog-pathway inhibitor, is approved for use in adults with advanced basal-cell carcinoma. Patients with multiple basal-cell carcinomas, including those with basal-cell nevus (Gorlin) syndrome, need extended treatment. We assessed the safety and activity of two long-term intermittent vismodegib dosing regimens in patients with multiple basal-cell carcinomas. Read More

    Idiopathic gingival papillokeratosis with crypt formation, a report of 7 cases of a previously undescribed entity: possible unusual oral epithelial nevus?
    Oral Surg Oral Med Oral Pathol Oral Radiol 2017 Mar 1;123(3):358-364. Epub 2016 Nov 1.
    Division of Oral Pathology, Boston University Henry M. Goldman School of Dental Medicine, Boston, MA, USA.
    We report 7 cases of hitherto undescribed keratotic papillary plaques of uncertain etiology involving the gingiva. All 7 cases presented on the anterior maxillary attached gingiva of patients in the second decade. The lesions were asymptomatic and 86% (6 of 7 cases) presented in a bilateral symmetric distribution. Read More

    Melanoma in congenital melanocytic naevi.
    Br J Dermatol 2017 Jan 12. Epub 2017 Jan 12.
    Paediatric Oncology, Great Ormond Street Hospital for Children NHS Foundation Trust, London.
    Congenital melanocytic naevi (CMN) are a known risk factor for melanoma, with the greatest risk currently thought to be in childhood. There has been controversy over the years about the incidence, and therefore over clinical management of CMN, due partly to the difficulties of histological diagnosis and partly to publishing bias towards cases of malignancy. Large cohort studies have demonstrated that risk in childhood is related to the severity of the congenital phenotype, not only cutaneous but neuroradiological. Read More

    Nevus Spilus (Speckled Lentiginous Nevus) in the Oral Cavity: Report of a Case and Review of the Literature.
    Am J Dermatopathol 2017 Jan;39(1):e8-e12
    *Department of Oral and Maxillofacial Pathology, Naval Postgraduate Dental School, Bethesda, MD; and †Department of Pathology, Walter Reed National Medical Military Center, Bethesda, MD.
    The congenital melanocytic nevus is a pigmented melanocytic lesion that presents at birth or shortly thereafter. It is commonly described on the skin, usually on the trunk and extremities. Only five intraoral cases of congenital melanocytic nevi have been described in the English literature. Read More

    Blue Rubber Bleb Nevus Syndrome Diagnosed Prenatally as an Epignathus.
    J Craniofac Surg 2016 Nov;27(8):e737-e738
    *I Department of Obstetrics and Gynaecology, The Centre of Postgraduate Medical Education†Center for Craniofacial Disorders, Institute of Mother and Child, Warsaw, Poland.
    The authors present a clinical report of the giant fetal tumor protruding from the oral cavity diagnosed sonographically at 32 weeks of gestation as an epignathus. After delivery, tumor proved to be a presentation of the blue rubber bleb nevus syndrome. To the best of our knowledge, the literature offers no reports on similar cases. Read More

    A Phase II Randomized Placebo-Controlled Trial of Oral N-acetylcysteine for Protection of Melanocytic Nevi against UV-Induced Oxidative Stress In Vivo.
    Cancer Prev Res (Phila) 2017 Jan 5;10(1):36-44. Epub 2016 Dec 5.
    Huntsman Cancer Institute, University of Utah Health Sciences Center, Salt Lake City, Utah.
    Oxidative stress plays a role in UV-induced melanoma, which may arise from melanocytic nevi. We investigated whether oral administration of the antioxidant N-acetylcysteine (NAC) could protect nevi from oxidative stress in vivo in the setting of acute UV exposure. The minimal erythemal dose (MED) was determined for 100 patients at increased risk for melanoma. Read More

    FHOD1 formin is upregulated in melanomas and modifies proliferation and tumor growth.
    Exp Cell Res 2017 Jan 2;350(1):267-278. Epub 2016 Dec 2.
    Department of Pathology and Forensic Medicine, University of Turku and Turku University Hospital, Turku, Finland; MediCity Research Laboratory, University of Turku, Finland. Electronic address:
    The functional properties of actin-regulating formin proteins are diverse and in many cases cell-type specific. FHOD1, a formin expressed predominantly in cells of mesenchymal lineage, bundles actin filaments and participates in maintenance of cell shape, migration and cellular protrusions. FHOD1 participates in cancer-associated epithelial to mesenchymal transition (EMT) in oral squamous cell carcinoma and breast cancer. Read More

    Pigmented oral compound nevus of retromolar area - A rare case report.
    Singapore Dent J 2016 Dec;37:33-35
    Department of Oral Pathology, Faculty of Dentistry, Jamia Millia Islamia, New Delhi. Electronic address:
    Solitary pigmented melanocytic intraoral lesions of the oral cavity are rare. Oral nevus is a congenital or acquired benign neoplasm. Oral compound nevus constitutes 5. Read More

    Minocycline successfully treats exaggerated granulomatous hypersensitivity reaction to Mw immunotherapy.
    Dermatol Ther 2016 Nov 28. Epub 2016 Nov 28.
    Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
    Mycobacterium W (Mw) vaccine has been found to be effective in the treatment of leprosy and warts. Despite increasing use of Mw immunotherapy, data on its safety is limited. We report a series of eight patients who developed persisting injection site granulomatous reaction following Mw immunotherapy and were successfully treated with minocycline. Read More

    Treatment of nevoid basal cell carcinoma syndrome: a case report.
    J Korean Assoc Oral Maxillofac Surg 2016 Oct 25;42(5):284-287. Epub 2016 Oct 25.
    Department of Oral and Maxillofacial Surgery, School of Dentistry, Chosun University, Gwangju, Korea.
    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is characterized by various embryological deformities and carcinoma formation. It is caused by PTCHI gene mutations and is autosomal dominantly inherited. Some of the main symptoms of NBCCS are multiple basal cell carcinomas, multiple keratocystic odontogenic tumors (KCOTs) of the mandible, hyperkeratosis of the palmar and plantar, skeletal deformity, calcification of the falx cerebri, and facial defomity. Read More

    Inhibition of the hedgehog pathway in patients with basal-cell nevus syndrome: final results from the multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.
    Lancet Oncol 2016 Dec 10;17(12):1720-1731. Epub 2016 Nov 10.
    Children's Hospital of Oakland Research Institute, Oakland, CA, USA. Electronic address:
    Background: Aberrant hedgehog signalling underlies the development of basal-cell carcinomas. We previously reported the interim analysis of a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial in patients with the basal-cell nevus (Gorlin) syndrome indicating that the smoothened inhibitor vismodegib reduces basal-cell carcinoma tumour burden and prevents new basal-cell carcinoma growth in patients with basal-cell nevus syndrome. We report the final results of this 36 month trial. Read More

    White sponge nevus: Report of three cases in a single family.
    J Oral Maxillofac Pathol 2016 May-Aug;20(2):300-3
    Department of Oral Pathology and Microbiology, Dental College, Regional Institute of Medical Sciences, Imphal, Manipur, India.
    White sponge nevus (WSN) is an interesting hereditary oral mucosal disorder that commonly manifests as bilaterally symmetrical, thickened white, corrugated or velvety, diffuse plaques that predominantly affects the buccal mucosa. The lesions may develop at birth or later in childhood or adolescence. Because it is asymptomatic and benign, WSN requires no treatment. Read More

    Dermatological Findings in Turkish Paediatric Haematology-Oncology Patients.
    Eurasian J Med 2016 Jun;48(2):107-11
    Department of Dermatology, Erciyes University School of Medicine, Kayseri, Turkey.
    Objective: Diagnoses of skin, mucosae, hair and nail manifestations in malignant diseases are often challenging because of life-threatening drug reactions, opportunistic infections or skin involvement of primary processes. Description of morphology, configuration and distribution of lesions is important in order to differentiate the self-healing eruptions from serious side effects of chemotherapy. There are case reports from Turkey including dermatological manifestations of malignancies and case series in adult patients but there are no published large group studies assessing all manifestations in children. Read More

    Porokeratotic Adnexal Ostial Nevus-Report of a Case With Unusual Clinical and Histologic Features.
    Skinmed 2016 1;14(3):221-4. Epub 2016 Jun 1.
    Departments of Dermatology, Icahn School of Medicine at Mount Sinai, New York, NY;
    An 11-year-old Tanzanian girl presented with diffuse verrucous lesions of varying morphology, scarring alopecia, and keloid scars over the face with a predilection for the ears. Physical examination revealed dark keratoderma and patches of hypopigmentation near the midline of the dorsal trunk (Figure 1a). Her forearms were densely covered by verrucous lesions with the exception of a clear linear patch on the dorsal aspect of the left forearm (Figure 1b). Read More

    Localized Eruptive Blue Nevi after Herpes Zoster.
    Case Rep Dermatol 2016 May-Aug;8(2):118-23. Epub 2016 May 24.
    Department of Dermatology, CHU du Sart Tilman, University of Liège, Liège, Belgium.
    A 52-year-old White man presented with a dozen small, well-restricted, punctiform, asymptomatic, blue-gray macules on the left shoulder. A few months earlier, he had been treated with oral acyclovir for herpes zoster (HZ) affecting the left C7-C8 dermatomes. All the blue macules appeared over a short period of time and then remained stable. Read More

    Mutiple keratocystic odontogenic tumors (KCOT) in a patient with Gorlin syndrome: a case report with late presentation and absence of skin manifestations.
    BMC Res Notes 2016 Jul 22;9:357. Epub 2016 Jul 22.
    Dhaka Medical College, Dhaka, Bangladesh.
    Background: Gorlin syndrome is a rare autosomal dominant syndrome characterized by multiple basal cell carcinomas, keratocystic odontogenic tumors (KOT) and falx cerebral calcifications, which occur due to mutation in PTCH gene.

    Case Presentation: A 36 year old Asian patient presented with jaw swelling and pain. Radiographic examination revealed six cysts in maxilla and mandible which were excised and histologically were compatable with keratocystic odontogenic tumors. Read More

    Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus.
    Int J Clin Pediatr Dent 2016 Jan-Mar;9(1):82-5. Epub 2016 Apr 22.
    Assistant Professor, Department of Pedodontics and Preventive Dentistry Maulana Azad Institute of Dental Sciences, New Delhi, India.
    Sturge-Weber syndrome (SWS) is a rare, nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. It is believed to be caused by persistence of a vascular plexus around the cephalic portion of the neural tube and is present at birth in about 1 in every 50,000 babies. It is one of the phakomatoses which is often associated with port-wine stains (PWSs) of the face, glaucoma, seizures, mental retardation and ipsilateral leptomeningeal angioma. Read More

    Response of Blue Rubber Bleb Nevus Syndrome to Sirolimus Treatment.
    Pediatr Blood Cancer 2016 Nov 8;63(11):1911-4. Epub 2016 Jun 8.
    Vascular Anomalies Center, Boston Children's Hospital, Boston, Massachusetts.
    Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare multifocal venous malformation syndrome involving predominantly the skin and gastrointestinal tract. Traditional treatment modalities include corticosteroids, interferon-α, sclerotherapy, and aggressive surgical resection. Sirolimus has been used in several single case reports. Read More

    Conjunctival malignant melanoma in Denmark: epidemiology, treatment and prognosis with special emphasis on tumorigenesis and genetic profile.
    Acta Ophthalmol 2016 May;94 Thesis 1:1-27
    Department of Neuroscience and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
    Conjunctival malignant melanoma is a rare disease associated with considerable mortality. Most published data have been based on case reports or series of referred patients. In addition, very little is known about the genetic and epigenetic profile of conjunctival melanoma and the resemblance to uveal, cutaneous and mucosal melanoma. Read More

    [Anesthetic Management of a Pediatric Case of Blue Rubber Bleb Nevi Syndrome Combined with Small-intestinal Intussusception].
    Masui 2016 Apr;65(4):384-6
    We report the anesthetic management of a pediatric case of blue rubber bleb nevi syndrome combined with small-intestinal intussusception. A 2-year-old girl was transferred to our hospital for small-intestinal intussusception. Emergent ablation of the upper gastrointestinal tract nevus under general anesthesia was planned. Read More

    Linear Epidermal Nevus: A Case Report With Oral and Facial Manifestations.
    J Oral Maxillofac Surg 2016 Oct 13;74(10):2000-6. Epub 2016 Apr 13.
    Attending Surgeon, Department of Oral & Maxillofacial Surgery, Walter Reed National Military Medical Center, Bethesda, MD.
    A 20-year-old man presented to the oral and maxillofacial surgery department for evaluation and treatment of a dentofacial deformity. On examination, it was noted that he had marked hemifacial hyperpigmented papillomatous lesions covering the upper and middle thirds of the right side of his face extending to the right upper lid. Of note, he also had extensive intraoral involvement. Read More

    Knowledge about Ultraviolet Radiation Hazards and Tanning Behavior of Cosmetology and Medical Students.
    Acta Dermatovenerol Croat 2016 Apr;24(1):73-7
    Ewelina Bogumiła Zuba, MD, Medical University of Poznan, 49 Przybyszewskiego St, 60-355 Poznan, Poland;
    Dear Editor, Ultraviolet (UV) radiation is a well-known physical hazard responsible for photoaging, photoallergic, and phototoxic reactions as well as carcinogenesis, including life-threatening melanomas (1,2). Overexposure to both natural and artificial UV radiation is a public health concern. 30% of cancers diagnosed worldwide are skin cancers. Read More

    TET2 Negatively Regulates Nestin Expression in Human Melanoma.
    Am J Pathol 2016 Jun 18;186(6):1427-34. Epub 2016 Apr 18.
    Program in Dermatopathology, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:
    Although melanoma is an aggressive cancer, the understanding of the virulence-conferring pathways involved remains incomplete. We have demonstrated that loss of ten-eleven translocation methylcytosine dioxygenase (TET2)-mediated 5-hydroxymethylcytosine (5-hmC) is an epigenetic driver of melanoma growth and a biomarker of clinical virulence. We also have determined that the intermediate filament protein nestin correlates with tumorigenic and invasive melanoma growth. Read More

    Benign Fibrous Histiocytomas of the Oral Mucosa: Report on Three Cases and Review of the Literature.
    Dermatopathology (Basel) 2015 Apr-Jun;2(2):52-60. Epub 2015 Apr 29.
    Unit of Oral Medicine and Oral and Maxillofacial Pathology, Division of Oral and Maxillofacial Surgery, Department of Surgery, University of Geneva and University Hospitals of Geneva, Geneva, Switzerland.
    Benign fibrous histiocytomas (BFH) of the skin are common lesions, although they only rarely involve the oral mucosa. This article presents 3 additional cases of BFH of the oral mucosa, with a review of previously published cases. Although a malignant variant of BFH also exists, the present review focuses only on benign lesions. Read More

    Anemia Due to Inflammation in an Anti-Coagulated Patient with Blue Rubber Bleb Nevus Syndrome.
    Clin Lab 2016 ;62(1-2):241-3
    Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by vascular malformations mostly involving skin and gastrointestinal tract. This disease is often associated with sideropenic anemia and occult bleeding.

    Methods: We report the case of chronic severe anemia in an old patient under oral anticoagulation treatment for chronic atrial fibrillation. Read More

    Spitz Nevus: A Rare Lesion of the Oral Cavity.
    Pediatr Dermatol 2016 Mar-Apr;33(2):e154-5
    Department of Human Pathology, University of Messina, Messina, Italy.
    Pigmented mucosal lesions represent a group of rare entities with different etiopathogenetic origins, histopathologic features, dermoscopic appearances, and clinical course. Solitary pigmented lesions of melanocytic origin are uncommon in the oral mucosa, and intraoral occurrence of Spitz nevus is very rare. Here we present a case of Spitz nevus occurring on the hard palate of a 26-month-old boy. Read More

    Multiple keratocystic odontogenic tumors in nevoid basal cell carcinoma syndrome.
    Ann Maxillofac Surg 2015 Jul-Dec;5(2):277-80
    Department of Oral and Maxillofacial Pathology and Microbiology, Dr. D. Y. Patil Dental College and Hospital, Navi Mumbai, Maharashtra, India.
    Keratocystic odontogenic tumor (KCOT) is of particular interest because its recurrence rate is high and its behavior is aggressive. Nevoid basal cell carcinoma syndrome (NBCCS), which is also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and with a predisposition to neoplasms. These multiple KCOTs have warranted an aggressive treatment at the earliest because of the damage and possible complications. Read More

    Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).
    Head Neck Pathol 2016 Jun 14;10(2):119-24. Epub 2016 Mar 14.
    Department of Pathology, Brigham and Women's Hospital, 75 Francis St., Boston, MA, 02115, USA.
    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. Read More

    Hair Follicle Nevus With Features of Comedo Nevus: An Expanding Spectrum.
    Am J Dermatopathol 2016 Jun;38(6):e81-6
    *Department of Pathology, University of Texas MD Anderson Cancer Center, Houston, TX; †Oral/Maxillofacial Surgery, CAMA Services, Mali, West Africa; ‡Division of Oral and Maxillofacial Pathology and Radiology, College of Dentistry, The Ohio State University, Columbus, OH; and §Department of Pathology, The Ohio State University-Wexner Medical Center, Columbus, OH.
    Hair follicle nevus (HFN) is a rare hamartomatous lesion of the folliculosebaceous unit, with or without admixed fibroadipose or muscular tissue. It typically has a congenital presentation in the preauricular area of infants and is frequently confused with an accessory tragus. Acquired tumors with similar histopathologic features have been described infrequently during adolescence and adult life. Read More

    Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit.
    Am J Med Genet A 2016 Apr 18;170A(4):1029-34. Epub 2016 Jan 18.
    Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
    We describe a Gorlin syndrome (GS) case with two different second hit mutations of PTCH1, one in a keratocystic odontogenic tumor (KCOT) and the other in an ovarian leiomyoma. GS is a rare genetic condition manifesting as multiple basal cell nevi associated with other features such as medulloblastomas, skeletal abnormalities, and ovarian fibromas. A 21-year-old Japanese woman with a history of two KCOTs was diagnosed with GS according to clinical criteria. Read More

    Inflammatory linear verrucous epidermal nevus and regional odontodysplasia: A rare sorority.
    Indian J Dent 2015 Oct-Dec;6(4):203-6
    Department of Oral Medicine and Radiology, Subharti Dental College, Meerut, Uttar Pradesh, India.
    Epidermal nevi are hamartomatous lesion and its association with other developmental defects particularly of the central nervous system, eye and skeletal system are well recognized. We report a rare case of inflammatory linear verrucous epidermal nevus syndrome along with regional odontodysplasia; and to the best of our knowledge this is the second case reported in the literature. Read More

    Desmoplastic Melanocytic Nevus of Oral Mucosa.
    Head Neck Pathol 2016 Sep 8;10(3):384-8. Epub 2016 Jan 8.
    Oral Surgery Associates, 464 S Hickory Street, Suite A, Fond du Lac, WI, 54935-5531, USA.
    The desmoplastic melanocytic nevus is an uncommon variant that easily may be confused with a fibrohistiocytic neoplasm or a desmoplastic melanoma. It is believed that the following report describes the first known example of a desmoplastic melanocytic nevus arising in the oral mucosa. The histopathologic and immunohistochemical features that allow separation from other microscopically similar pathoses are stressed. Read More

    Prevalence and clinical features of pigmented oral lesions.
    Int J Dermatol 2016 Sep 28;55(9):1005-13. Epub 2015 Dec 28.
    University College London, London, UK.
    Background: To examine the relative prevalence, types, and clinical features of pigmented lesions of the oral mucosa in 1275 patients attending a university hospital for dental care.

    Methods: Patients attending dental clinics at The University of Jordan Hospital over a 1-year period were examined for the presence of oral pigmentations. Histopathological examination was performed on focally pigmented lesions with a suspicious or uncertain clinical diagnosis. Read More

    [Horn shaped perforator flap pedicled with the angular artery: anatomy basis and clinical application].
    Zhonghua Zheng Xing Wai Ke Za Zhi 2015 Jul;31(4):241-5
    Objective: To explore the anatomic basis and clinical application of the horn shaped perforator flap pedicled with the angular artery for the reconstruction of midface defect.

    Methods: (1) 10 fresh cadavers were perfused with a modified guiding oxide gelatin mixture for three-dimensional visualization reconstruction using a 16-slice spiral computed tomography scanner and specialized software (Materiaise' s interactive medical image control system, MIMICS). The origin and distribution of the angular artery perforator were observed. Read More

    White lesions in the oral cavity: clinical presentation, diagnosis, and treatment.
    Semin Cutan Med Surg 2015 Dec;34(4):161-70
    Departments of Orofacial Sciences, Radiation Oncology, and Pathology, and the Helen Diller Comprehensive Cancer Center, University of California, San Francisco, California, USA.
    White lesions in the oral cavity are common and have multiple etiologies, some of which are also associated with dermatological disease. While most intraoral white lesions are benign, some are premalignant and/or malignant at the time of clinical presentation, making it extremely important to accurately identify and appropriately manage these lesions. Due to their similar clinical appearances, it may be difficult sometimes to differentiate benign white lesions from their premalignant/malignant counterparts. Read More

    Immunohistochemical expression of cyclooxygenase-2 (COX-2) in oral nevi and melanoma.
    J Oral Pathol Med 2016 Jul 26;45(6):440-3. Epub 2015 Nov 26.
    Oral Pathology, Department of Oral Diagnosis and Pathology, School of Dentistry, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
    Background: Cyclooxygenase-2 (COX-2) catalyses the conversion of arachidonic acid to prostaglandin, and its overexpression has been demonstrated in different malignant tumors, including cutaneous melanoma. However, no data about the expression of this protein in oral melanocytic lesions are available to date. The aim of this study was to evaluate the immunohistochemical expression of COX-2 in oral nevi and melanomas, comparing the results with correspondent cutaneous lesions. Read More

    Nevoid Basal Cell Carcinoma Syndrome and the Keratocystic Odontogenic Tumor.
    J Oral Maxillofac Surg 2015 Dec;73(12 Suppl):S77-86
    Professor, Department of Oral and Maxillofacial Surgery, University of Tennessee Medical Center, Knoxville, TN.
    Purpose: To analyze the clinical and radiographic manifestations of nevoid basal cell carcinoma syndrome (NBCCS) with a particular emphasis on the presence, treatment, and outcomes of keratocystic odontogenic tumors (KOTs) in these patients.

    Patients And Methods: The authors implemented a prospective case series and enrolled a sample of patients with KOTs and NBCCS. The primary study variables were the demographics, treatment, and outcomes of managing KOTs in this sample. Read More

    The Partnership of Medical Genetics and Oral and Maxillofacial Surgery When Evaluating Craniofacial Anomalies.
    J Oral Maxillofac Surg 2015 Dec;73(12 Suppl):S13-6
    Clinical Professor, Department of Pediatrics, Harvard Medical School, Boston; Genetics Unit, Massachusetts General Hospital for Children, Boston, MA. Electronic address:
    A medical geneticist who has an interest in craniofacial anomalies forms a natural partnership with an oral and maxillofacial surgeon, which facilitates patient care. Using complementary diagnostic and therapeutic skills, the search for a recognizable pattern can lead to a syndrome diagnosis. After the initial examination, there is usually genetic testing to confirm the clinical diagnosis. Read More

    Gorlin-Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature.
    Contemp Clin Dent 2015 Sep;6(Suppl 1):S192-201
    Department of Oral and Maxillofacial Surgery, Punjab Government Dental College and Hospital, Amritsar, Punjab, India.
    Objective: In Indian scenario, Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome [NBCCS]) has been rarely reported. The clinical, radiological, and histopathological findings and major and minor criteria in five cases of NBCCS in North Indian population have been presented along with a discussion of the role of gene mutation analysis in early diagnosis of syndrome.

    Materials And Methods: The diagnostic findings of Gorlin-Goltz syndrome in 5 patients were compared with other reports in Indian population and with reports of this syndrome in other parts of the world. Read More

    A Rare Entity of Giant Epidermal Exophytic Naevus of Hemifacial Region.
    J Clin Diagn Res 2015 Oct 1;9(10):ZD05-7. Epub 2015 Oct 1.
    Assistant Professor, Department of Oral & Maxillofacial Surgery & Diagnostics Sciences, College of Dentistry, Prince Sattam Bin Abdul Aziz University , Al-Kharj, Kingdom of Saudi Arabia .
    The term nevi constitute a hamartomatous growth of either skin or mucosa that is generally found at birth or shortly after birth. An epidermal nevus consisting chiefly of sebaceous glands is called as nevus sebaceous. Typically this entity is seen as a solitary bald patch over the scalp at birth. Read More

    Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome.
    PLoS One 2015 6;10(11):e0140480. Epub 2015 Nov 6.
    Oral and Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
    Gorlin syndrome (GS) is an autosomal dominant disorder that predisposes affected individuals to developmental defects and tumorigenesis, and caused mainly by heterozygous germline PTCH1 mutations. Despite exhaustive analysis, PTCH1 mutations are often unidentifiable in some patients; the failure to detect mutations is presumably because of mutations occurred in other causative genes or outside of analyzed regions of PTCH1, or copy number alterations (CNAs). In this study, we subjected a cohort of GS-affected individuals from six unrelated families to next-generation sequencing (NGS) analysis for the combined screening of causative alterations in Hedgehog signaling pathway-related genes. Read More

    Safety and efficacy of sunitinib for advanced non-clear cell renal cell carcinoma.
    Asia Pac J Clin Oncol 2015 Dec 15;11(4):328-33. Epub 2015 Oct 15.
    Department of Urology, Cancer Institute and Cancer Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
    Aim: This study evaluated the safety and efficacy of sunitinib in the treatment of advanced non-clear cell renal cell carcinoma.

    Methods: Thirty-seven Chinese patients with advanced non-clear cell renal cell carcinoma were enrolled from October 2008 to October 2013. Sunitinib monotherapy was administered in repeated 6-week cycles of daily oral administration of 50 mg for 4 weeks, followed by 2 weeks off. Read More

    Gorlin-Goltz Syndrome: An Uncommon Cause of Facial Pain and Asymmetry.
    J Craniofac Surg 2015 Oct;26(7):e612-4
    Michael E. DeBakey Department of Surgery, Division of Plastic Surgery, Baylor College of Medicine, Houston, TX.
    Gorlin-Goltz syndrome is an underdiagnosed autosomal dominant disorder with variable expressivity that is characterized by an increased predisposition to tumorigenesis of multiple types. The major clinical features include multiple basal cell carcinomas (BCCs) appearing in early childhood, palmar and plantar pits, odontogenic keratocysts of the oral cavity, skeletal defects, craniofacial dysmorphism, and ectopic intracranial calcification. The authors present the clinical course of a 12-year-old girl presenting with facial asymmetry and pain because of previously undiagnosed Gorlin-Goltz syndrome. Read More

    Congenital Melanocytic Nevus of the Nose Removed Using Dermabrasion, Hydroquinone, and Serial Excision.
    J Craniofac Surg 2015 Oct;26(7):2216-7
    Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA.
    We report a child with a congenital pigmented nevus of the nose involving the left ala, sidewall, soft triangle, and tip. Removal of the lesion was performed using dermabrasion, topical hydroquinone, and serial excision to optimize the aesthetic outcome. The patient was left with a linear scar and did not require reconstruction with a skin graft or flap. Read More

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