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    1817 results match your criteria Nevoid Basal Cell Carcinoma Syndrome

    1 OF 37

    Blue light versus red light for photodynamic therapy of basal cell carcinoma in patients with Gorlin syndrome: A bilaterally controlled comparison study.
    Photodiagnosis Photodyn Ther 2018 Feb 19. Epub 2018 Feb 19.
    Department of Quantitative Health Sciences, Cleveland Clinic, Cleveland, OH 44195, United States.
    Background: Photodynamic therapy (PDT) is a non-scarring alternative for treating basal cell carcinoma (BCC) in patients with Basal Cell Nevus Syndrome (BCNS), also known as Gorlin syndrome. In Europe, red light (635 nm) is the predominant source for PDT, whereas in the United States blue light (400 nm) is more widely available. The objective of this study was to conduct a head-to-head comparison of blue light and red light PDT in the same BCNS patients. Read More

    Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones.
    Pathophysiology 2018 Jan 31. 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

    The best of the best: a review of select oculoplastic case series published in 2015.
    Digit J Ophthalmol 2017 21;23(4):1-3. Epub 2017 Nov 21.
    Department of Ophthalmology, SUNY Downstate Medical Center, Brooklyn, New York.
    This review summarizes three case series published in the field of oculoplastic surgery in the year 2015. The first article describes the use of hedgehog pathway inhibitors for medical therapy of advanced periocular basal cell carcinoma and basal cell nevus syndrome. The second describes the use of c-reactive protein as a marker for starting treatment with steroids in children with orbital cellulitis. Read More

    Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome.
    J Craniofac Surg 2018 Jan 29. Epub 2018 Jan 29.
    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

    Uncommon hereditary gynaecological tumour syndromes: pathological features in tumours that may predict risk for a germline mutation.
    Pathology 2018 Feb 17;50(2):238-256. Epub 2018 Jan 17.
    University of California San Francisco, Pathology Department, San Francisco, CA, United States. Electronic address:
    The most common hereditary gynaecological tumour syndromes are hereditary breast and ovarian cancer syndrome and Lynch syndrome. However, pathologists also may encounter gynaecological tumours in women with rare hereditary syndromes. Many of these tumours exhibit distinctive gross and microscopic features that are associated with a risk for an inherited gene mutation. Read More

    Gorlin Syndrome.
    Actas Dermosifiliogr 2018 Jan 17. Epub 2018 Jan 17.
    Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca, Salamanca, España; Departamento de Dermatología, Hospital Clínico Universitario, Salamanca, España.
    Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. Read More

    [Nevoid basal-cell carcinoma syndrome (Gorlin Syndrome): report of two cases and review of the literature].
    Rev Peru Med Exp Salud Publica 2017 Oct-Dec;34(4):744-750
    Facultad de Medicina Humana. Universidad Ricardo Palma. Lima, Perú.
    Gorlin syndrome (GS) is a genetic disorder with an autosomal dominant inheritance pattern, with complete penetrance and variable expressivity. GS is caused by germline mutations in the genes PTCH1 or SUFU, which are components of the Sonic hedgehog molecular pathway. GS is characterized by the presence of multiple nevoid basal cell carcinomas, odontogenic cysts, calcification of the brain sickle, and lesions in the palms and soles. Read More

    Pediatric nevoid basal cell carcinoma syndrome.
    Cutis 2017 Dec;100(6):423-426
    Nova Southeastern College of Osteopathic Medicine, Largo Medical Center, Florida, USA.
    Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, autosomal-dominant, cancer-predisposing, multisystem disorder. The clinical manifestations of NBCCS include multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar or plantar pits, and calcification of the falx cerebri. We present a case of an 11-year-old boy with Fitzpatrick skin type V who presented with multiple facial lesions and a history of maxillary keratocysts. Read More

    Intratarsal keratinous eyelid cysts in Gorlin syndrome: A review and reappraisal.
    Surv Ophthalmol 2017 Dec 27. Epub 2017 Dec 27.
    Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA; Ophthalmic Plastic and Reconstructive Surgery Service, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
    A 38-year-old woman presented with multiple bilateral recurrent eyelid cysts. Her medical history was notable for Gorlin (nevoid basal cell carcinoma) syndrome. Histopathologic and immunohistochemical examinations revealed that the lesions were intratarsal keratinous cysts. Read More

    Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).
    Anticancer Res 2018 01;38(1):471-476
    Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
    Background/aim: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various skeletal anomalies. Basaloid follicular hamartomas (BFHs) constitute rare neoplasms that can be detected in sporadic and familial settings as in the Basaloid Follicular Hamartoma Syndrome (BFHS). Although BFHS shares clinical, histopathological and genetic overlapping with the NBCCS, they are still considered two distinctive entities. Read More

    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

    Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk and prognosis.
    Neuro Oncol 2017 Nov 24. Epub 2017 Nov 24.
    Département de Cancérologie de l'Enfant et de l'Adolescent, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
    Background: Germline SUFU mutations predispose to SHH medulloblastoma. Germline SUFU mutations have been reported in nevoid basal cell carcinoma syndrome (NBCCS), but little is known about the cancer risk and clinical spectrum.

    Patients And Methods: We performed a retrospective review of all patients with medulloblastoma and a germline SUFU mutation in France. Read More

    Imaging findings in systemic childhood diseases presenting with dermatologic manifestations.
    Clin Imaging 2017 Oct 31;49:17-36. Epub 2017 Oct 31.
    Department of Radiology, Division of Pediatric Radiology, Montefiore Medical Center, Bronx, NY, United States. Electronic address:
    Purpose: Many childhood diseases often present with skin abnormalities with which radiologists are largely unfamiliar. Knowledge of associated dermatologic manifestations may aid the radiologist in confirming the diagnosis and recommending targeted imaging of affected organs.

    Methods: We review the imaging findings in childhood diseases associated with dermatologic manifestations. Read More

    Genomic Stability in Syndromic Basal Cell Carcinoma.
    J Invest Dermatol 2017 Oct 27. Epub 2017 Oct 27.
    Department of Dermatology, Stanford University School of Medicine, Stanford, California, USA. Electronic address:
    Basal cell cancers (BCCs) are characterized by upregulation of Hedgehog pathway through loss of PTCH1 or activation of SMO, and SMO inhibitors, such as vismodegib, are effective therapies for advanced BCCs. Although most BCCs are sporadic, rare individuals with basal cell nevus syndrome (BCNS) harbor germline defects in PTCH1 and develop up to hundreds of tumors that are histopathologically indistinguishable from sporadic BCCs. Interestingly, BCNS-BCCs are more responsive to SMO inhibitors than sporadic BCCs, with minimal development of resistance. Read More

    Does Surgical Fragmentation of Odontogenic Keratocystic Capsule Interfere With the Recurrence Rate?
    J Oral Maxillofac Surg 2017 Oct 13. Epub 2017 Oct 13.
    Professor, Department of Oral Pathology, School of Dentistry, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address:
    Purpose: We hypothesized that fragmentation of the cystic capsule during surgery would influence the recurrence rate of odontogenic keratocysts (OKCs) regardless of the treatment modality chosen.

    Materials And Methods: We reviewed, in a retrospective study, cases diagnosed as OKCs on histopathologic examination at the oral pathology department between 1991 and 2013. Fragmentation data were obtained from the records of the oral surgical department. Read More

    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

    Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population.
    Cancer Biomark 2017 Dec;21(1):161-168
    Background: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease with a complex genetic etiology. Although three causative genes (PTCH1, PTCH2, SUFU) have been identified through linkage analysis and Sanger sequencing, the genetic background of NBCCS hasn't been fully understood.

    Methods: We performed a whole-exome sequencing (WES) in a Han Chinese NBCCS family and two unaffected volunteers to search for its causative gene. Read More

    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

    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

    Spectrum of orocutaneous disease associations: Genodermatoses and inflammatory conditions.
    J Am Acad Dermatol 2017 Nov;77(5):809-830
    Division of Dermatology, Baylor University Medical Center, Dallas, Texas. Electronic address:
    The oral cavity and cutaneous organ systems share a close embryologic origin. Therefore, there are numerous dermatologic conditions presenting with concomitant oral findings of which the dermatologist must be aware. The second article in this continuing medical education series reviews inflammatory orocutaneous conditions and a number of genodermatoses. Read More

    Be vigilant for skin manifestations of inherited cancer syndromes.
    Practitioner 2017 01;261(1800):23-7
    More than 200 hereditary cancer susceptibility syndromes have been described, and it is thought that they account for 5-10% of all cancers. Many have dermatological manifestations (usually lesions, occasionally rashes) which frequently precede other systemic pathology. Dermatological signs are usually non-specific and often trivial in appearance, making their significance easy to overlook and a clinical diagnosis challenging. Read More

    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.

    A Case of Phacomatosis Pigmentokeratotica Associated With Multiple Basal Cell Carcinomas.
    Am J Dermatopathol 2018 Feb;40(2):131-135
    Department of Dermatology, College of Medicine, Kyung Hee University, Seoul, Korea.
    Phacomatosis pigmentokeratotica is a recently identified disease characterized by the coexistence of an epidermal nevus with sebaceous differentiation arranged along Blaschko lines and a speckled lentiginous nevus showing a checkerboard pattern, mostly in association with various extracutaneous defects. A 52-year-old man presented with asymptomatic ulcerative plaque on his left side of perioral area. A 2 × 2-cm-sized fleshy colored ulceration on his left perioral area was consistent with basal cell carcinoma with nevus sebaceous. Read More

    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

    Unusual Neurological Presentation of Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome).
    J Clin Neurol 2017 Oct 4;13(4):439-441. Epub 2017 Sep 4.
    Department of Surgical Sciences and Advanced Technologies, Section of Neurosciences, Azienda Ospedaliero Universitaria "Policlinico-Vittorio Emanuele", Catania, Italy.

    [Gorlin-Goltz Syndrome: Diagnosis and Treatment Options].
    Acta Med Port 2017 May 31;30(5):418-421. Epub 2017 May 31.
    Serviço de Dermatologia e Venereologia. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal. Departamento de Dermatologia. Faculdade de Medicina. Universidade de Coimbra. Coimbra. Portugal.
    The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts. Read More

    Very Long-term Sequelae After Nonradical Surgery Combined With Brachytherapy in an Infant With a Chemotherapy-resistant Rhabdomyosarcoma of the Tongue.
    J Pediatr Hematol Oncol 2017 Oct;39(7):566-569
    *Princess Máxima Center for Pediatric Oncology §Department of Radiology, University Medical Center Utrecht, Utrecht, the Netherlands †Department of Pediatrics, Erasmus MC-Sophia Children's Hospital ‡Department of Radiotherapy, Erasmus MC ∥Department of Pediatric Oncology, Erasmus MC-Sophia Children's Hospital ¶Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.
    In 2003, van Grotel and colleagues reported an infant suffering a chemotherapy-resistant eRMS of the tongue, that was treated with subtotal tumor resection and brachytherapy after major medical ethical discussions. As no long-term sequelae of such a procedure have been described, perspectives were uncertain at that time. Now, after 15 years, we describe hypoplasia of the mandibula, compromised dentation, osteopenia, neuropsychological deficits, and moderate speech impairment as the most prominent late effects. Read More

    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

    Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.
    Br J Dermatol 2018 Jan 22;178(1):198-206. Epub 2017 Dec 22.
    Molecular Medicine Unit, Department of Medicine, University of Salamanca, Salamanca, Spain.
    Background: Naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental alterations and multiple basal cell carcinomas. Mutations in PTCH1, which encodes a membrane receptor for Sonic Hedgehog, are associated with the development of the disease. Most of them produce a truncated protein, which is unable to suppress Smoothened protein and continuously activates the downstream pathway. Read More

    Removal of Multiple Keratocystic Odontogenic Tumors in a Nonsyndromic Patient.
    Ann Maxillofac Surg 2017 Jan-Jun;7(1):136-139
    Department of Dental Research, Cuiabá Dental School, University of Cuiabá, Cuiabá, MT, Brazil.
    Multiple keratocystic odontogenic tumors are one of the key features of Gorlin-Goltz syndrome. A 15-year-old nonsyndromic female child presented with multiple keratocystic odontogenic tumors. The presence of the tumors was observed in immunological examinations. Read More

    Muckle-Wells syndrome in the setting of basal cell nevus syndrome.
    Cutis 2017 Jun;99(6):421-424
    Advanced Dermatology Associates, Allentown, USA.
    Muckle-Wells syndrome (MWS) is a rare disorder inherited in an autosomal-dominant fashion that belongs to a group of hereditary periodic fever syndromes. It specifically belongs to the cryopyrin-associated periodic syndromes (CAPSs) in which there is a mutation in the NLRP(NLR family pyrin domain containing 3) gene that leads to overproduction of IL-1β, the source of the multisystem inflammatory symptoms. Muckle-Wells syndrome is characterized by a recurrent urticarial eruption that is associated with episodic fever, myalgia, arthralgia, malaise, progressive sensorineural hearing loss, and amyloid nephropathy (the most severe complication). Read More

    Conservative Treatment of Multiple Keratocystic Odontogenic Tumors in a Young Patient with Nevoid Basal Cell Carcinoma Syndrome by Decompression: A 7-year Follow-up Study.
    J Clin Pediatr Dent 2017;41(4):300-304
    Multiple keratocystic odontogenic tumors (KCOT) occurred in a young child is challenging problem in the field of pediatric dentistry, and might have been related to nevoid basal cell carcinoma syndrome (NBCCS). Because of high recurrence rate of KCOTs, complete surgical resection is generally accepted as definitive treatment. However, complete surgical resection could induce negative effect on the development of permanent teeth and growth of jaw. Read More

    Basal cell carcinoma pathogenesis and therapy involving hedgehog signaling and beyond.
    Mol Carcinog 2017 Dec 22;56(12):2543-2557. Epub 2017 Aug 22.
    Department of Dermatology and Skin Diseases Research Center, University of Alabama at Birmingham, Birmingham, Alabama.
    Basal cell carcinoma (BCC) of the skin is driven by aberrant hedgehog signaling. Thus blocking this signaling pathway by small molecules such as vismodegib inhibits tumor growth. Primary cilium in the epidermal cells plays an integral role in the processing of hedgehog signaling-related proteins. Read More

    Ameloblastic Fibro-Odontoma of the Maxilla in a Pierre-Robin Sequence Patient.
    Fetal Pediatr Pathol 2017 Oct 30;36(5):416-422. Epub 2017 May 30.
    e DDS, MD, MA -- Section Chief of Oral and Maxillofacial Surgery, Department of Oral and Maxillofacial Surgery , University of Pennsylvania Presbyterian Medical Center, Philadelphia Veterans Affairs Medical Center.
    Introduction: Pierre Robin sequence (PRS) is a rare disorder classically observed as a triad of features including micrognathia, glossoptosis, and upper airway obstruction. It is associated with a syndrome in about 60% of cases. While odontogenic tumors are common findings in patients with familial adenomatous polyposis and nevoid basal cell carcinoma syndromes, PRS has not been found to be consistently associated with any tumors of the jaw. Read More

    Genetic diseases associated with an increased risk of skin cancer development in childhood.
    Curr Opin Pediatr 2017 Aug;29(4):426-433
    aStanford University School of Medicine bDepartment of Dermatology cDepartment of Dermatology and Pediatrics dDivision of Pediatric Dermatology, Stanford University School of Medicine, USA.
    Purpose Of Review: Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals. Read More

    Multisystem Involvement in a Patient with aMutation: Clinical and Imaging Findings.
    J Pediatr Genet 2017 Jun 14;6(2):103-106. Epub 2016 Sep 14.
    Departamento de Genética, Instituto de Ciências Biológicas, Universidade Federal de Goias, Goiania, Goiás, Brazil.
    In this article, we report on a Brazilian female patient born to consanguineous parents and presenting with alobar holoprosencephaly, severe eye involvement, and unusual skin hyperpigmented lesions. She was found to have a mutation (c.2240T > C; p. Read More

    Analysis of GLUT-1, GLUT-3, and angiogenic index in syndromic and non-syndromic keratocystic odontogenic tumors.
    Braz Oral Res 2017 Apr 27;31:e34. Epub 2017 Apr 27.
    Universidade Estadual da Paraíba - UEPB, Dental School, Department of Dentistry, Campina Grande, PB, Brazil.
    The aim of this study was to evaluate the immunoexpression of glucose transporters 1 (GLUT-1) and 3 (GLUT-3) in keratocystic odontogenic tumors associated with Gorlin syndrome (SKOTs) and non-syndromic keratocystic odontogenic tumors (NSKOTs), and to establish correlations with the angiogenic index. Seventeen primary NSKOTs, seven recurrent NSKOTs, and 17 SKOTs were selected for the study. The percentage of immunopositive cells for GLUT-1 and GLUT-3 in the epithelial component of the tumors was assessed. Read More

    Clinical Finding and Management of 12 Orofacial Clefts Cases With Nevoid Basal Cell Carcinoma Syndrome.
    Cleft Palate Craniofac J 2017 May;54(3):338-342
    Objective  To study the phenotype and overview the clinical management on Cleft Lip and/or Palate (CL/P) with Nevoid Basal Cell Carcinoma Syndrome (NBCCS) patients in Peking University School and Hospital of Stomatology. Design  Case series study. Main Outcome Measures  To describe the clinical phenotype of 12 CL/P with NBCCS patients who fulfilled the diagnostic criteria as well as to explore clinical management. Read More

    Sporadic versus syndromic keratocysts-Can we predict treatment outcome? A review of 102 cysts.
    Oral Dis 2017 Nov 13;23(8):1058-1065. Epub 2017 Sep 13.
    Department of Oral and Maxillofacial Surgery, the Clinical Research Institute and the Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
    Objectives: Keratocystic odontogenic tumor (KCOT) demonstrates variable growth mechanisms and biologic behavior, partly due to origin and histology. We looked for the most contributing factors in predicting outcome of treatment.

    Subjects And Methods: We retrospectively reviewed 118 medical files of patients diagnosed with KCOT (by tissue biopsy before surgical treatment) with/without nevoid basal cell carcinoma syndrome (NBCCS) from 1995 to 2015. Read More

    What's new with common genetic skin disorders?
    Minerva Pediatr 2017 Aug 20;69(4):288-297. Epub 2017 Apr 20.
    Department of Dermatology, Rochester, MN, USA -
    Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated. Read More

    The Molecular Revolution in Cutaneous Biology: Emerging Landscape in Genomic Dermatology: New Mechanistic Ideas, Gene Editing, and Therapeutic Breakthroughs.
    J Invest Dermatol 2017 May;137(5):e123-e129
    INSERM UMR 1163, Paris, France; Imagine Institute, Paris, France; University Paris Descartes Sorbonne Cité, Paris, France; Department of Genetics, Necker Hospital for Sick Children, Paris, France. Electronic address:
    Stunning technological advances in genomics have led to spectacular breakthroughs in the understanding of the underlying defects, biological pathways and therapeutic targets of skin diseases leading to new therapeutic interventions. Next-generation sequencing has revolutionized the identification of disease-causing genes and has a profound impact in deciphering gene and protein signatures in rare and frequent skin diseases. Gene addition strategies have shown efficacy in junctional EB and in recessive dystrophic EB (RDEB). Read More

    Somatic mosaicism containing double mutations inrevealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome.
    J Med Genet 2017 Aug 31;54(8):579-584. Epub 2017 Mar 31.
    Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan.
    Background: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterised by developmental defects and tumorigenesis, such as medulloblastomas and basal cell carcinomas, caused by mutations of the() gene. In this article, we seek to demonstrate a mosaicism containing double mutations inin an individual with NBCCS.

    Methods And Results: A de novo germline mutation of(c. Read More

    Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.
    J Dermatol Sci 2017 Jun 11;86(3):206-211. Epub 2017 Mar 11.
    Department of Dermatology, Tokushima University Graduate School of Medical Science, Tokushima, Japan. Electronic address:
    Background: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder mainly caused by heterozygous mutations of PTCH1. In addition to characteristic clinical features, detection of a mutation in causative genes is reliable for the diagnosis of NBCCS; however, no mutations have been identified in some patients using conventional methods.

    Objective: To improve the method for the molecular diagnosis of NBCCS. Read More

    Brain morphology in children with nevoid basal cell carcinoma syndrome.
    Am J Med Genet A 2017 Apr;173(4):946-952
    Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan.
    Brain morphology is tightly regulated by diverse signaling pathways. Hedgehog signaling is a candidate pathway considered responsible for regulating brain morphology. Nevoid basal cell carcinoma syndrome (NBCCS), caused by a PTCH1 mutation in the hedgehog signaling pathway, occasionally exhibits macrocephaly and medulloblastoma. Read More

    Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.
    Intern Med J 2017 Jun;47(6):664-673
    Department of Genetic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
    Background: Gorlin syndrome (nevoid basal cell carcinoma syndrome) is a rare genetic predisposition to basal cell carcinomas (BCC), keratocysts of the jaw and calcification of the falx cerebri among other clinical features. With the advent of sonic hedgehog inhibitors for the treatment of BCC, it is timely to establish a cohort of individuals with Gorlin syndrome and collect standardised phenotypic information on these individuals. Moreover, the health-related quality of life (QoL) in individuals with Gorlin syndrome is not well studied. Read More

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