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    1799 results match your criteria Nevoid Basal Cell Carcinoma Syndrome

    1 OF 36

    Chromosome 9 mutations reported absent in some patients with Basal Cell Carcinoma Nevus Syndrome.
    J Eur Acad Dermatol Venereol 2017 Nov 14. Epub 2017 Nov 14.
    University of Central Florida College of Medicine, Orlando, Florida.
    Basal Cell Carcinoma Nevus Syndrome (BCCNS), also known as Gorlin syndrome, is a rare autosomal dominant condition with a substantial disease burden, thought to occur secondary to chromosome 9 mutation evoking a Hedgehog (Hh) signaling aberration that leads to early development of numerous basal cell carcinomas (BCCs). Individuals with BCCNS also present with keratocystic odontogenic tumors, medulloblastomas, and palmar or plantar pits1. This condition demonstrates variable expressivity, leading to differing phenotypes, even within the same family2. 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, CA, USA. Electronic address:
    Basal cell cancers (BCCs) are characterized by up-regulation of Hedgehog pathway through loss of Patched1 or activation of Smoothened, and smoothened-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 Patched1 and develop up to hundreds of tumors that are histopathologically indistinguishable from sporadic BCCs. Interestingly, BCNS-BCCs are more responsive to Smoothened-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

    Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population.
    Cancer Biomark 2017 Oct 20. Epub 2017 Oct 20.
    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

    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 2017 Sep 13. Epub 2017 Sep 13.
    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 Nevoid Basal Cell Carcinoma Syndrome.
    Br J Dermatol 2017 Jul 22. Epub 2017 Jul 22.
    Molecular Medicine Unit-Department of Medicine, University of Salamanca, Salamanca, Spain.
    Background: Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by developmental alterations and multiple basal cell carcinomas. Mutations in PTCH1, 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 supress Smoothened protein and continuously activates the downstream pathway OBJECTIVES: We aimed to characterize 22 unrelated Spanish subjects with NBCCS, the largest cohort of Gorlin syndrome reported to date in Spain METHODS AND RESULTS: We reported for the first time two young patients with uterus didelphys and ganglioneuroma, within the context of NBCCS. 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 NLRP3 (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 a PTCH1 Mutation: 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 in PTCH1 revealed 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 patched-1 (PTCH1) gene. In this article, we seek to demonstrate a mosaicism containing double mutations in PTCH1 in an individual with NBCCS.

    Methods And Results: A de novo germline mutation of PTCH1 (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

    Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome - Natural Course: Case Report and Literature Review.
    Case Rep Dermatol 2017 Jan-Apr;9(1):1-5. Epub 2017 Jan 10.
    Department of Dermatology, University Hospital Basel, Basel, Switzerland; Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
    Papular epidermal nevus with "skyline" basal cell layer (PENS) is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases. Therefore, it is also referred to as PENS syndrome. Clinically visible hyperkeratotic papules and plaques already appear at birth or shortly thereafter, while neurological symptoms such as epilepsy and mental retardation manifest themselves during childhood. Read More

    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 Mar 8;18(3):404-412. Epub 2017 Feb 8.
    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

    Photodynamic therapy for dermatologic conditions in the pediatric population: a literature review.
    Photodermatol Photoimmunol Photomed 2017 May 17;33(3):125-134. Epub 2017 Mar 17.
    Department of Dermatology, Cleveland Clinic, Cleveland, OH, USA.
    Photodynamic therapy (PDT), using topical aminolevulinic acid (ALA), has been used for years to treat a variety of dermatologic conditions, including actinic keratosis, superficial basal cell carcinoma, and in situ squamous cell carcinoma. While there is a wide range of neoplastic and non-neoplastic skin diseases for which ALA-PDT is used in adults, there is a knowledge gap when it comes to its use in children. This review highlights what is currently known regarding the use and efficacy of this therapy in the pediatric population. Read More

    Nevoid Basal Cell Carcinoma Syndrome and Hairy Skin Patches.
    Pediatr Dermatol 2017 Mar 25;34(2):e97-e98. Epub 2017 Jan 25.
    Department of Dermatology, University of California, Davis, Sacramento, California.
    We report a case of an increasing number of discrete patches of darkly pigmented terminal hair in a patient with nevoid basal cell carcinoma syndrome. This case adds to a small case series of three patients which have previously reported this observation. We report this case to highlight hairy patches as an important clinical feature associated with nevoid basal cell carcinoma syndrome. Read More

    Dermoscopy of Papular Epidermal Nevus with Skyline Basal Cell Layer.
    Pediatr Dermatol 2017 Mar 23;34(2):e99-e101. Epub 2017 Jan 23.
    Division of Dermatology "U.O. Multizonale", Outpatient Consultation for Rare Diseases, "S. Chiara" Hospital, Trento, Italy.
    Papular epidermal nevus with skyline basal cell layer (PENS) is a newly described keratinocytic nevus whose dermoscopic characteristics have not been clarified. We used a dermatoscope to investigate the multiple PENSs of a patient with PENS syndrome. All the lesions shared a common dermoscopic homogeneous white pattern surrounded by peripheral, slightly dotted hyperpigmentation. Read More

    An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.
    Head Neck Pathol 2017 Jan 21. Epub 2017 Jan 21.
    Department of Histopathology, King's College Hospital, London, SE5 9R, UK.
    Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome). In some syndromes, the disease is multisystem with skin index lesions presenting in the head and neck (Cowden syndrome and tuberous sclerosis complex). Read More

    Recurrence probability for keratocystic odontogenic tumors: An analysis of 6427 cases.
    J Craniomaxillofac Surg 2017 Feb 19;45(2):244-251. Epub 2016 Nov 19.
    Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil. Electronic address:
    Purpose: To investigate and compare the probability of recurrence of keratocystic odontogenic tumors (KCOTs) for different variables and treatment protocols.

    Materials And Methods: An electronic search was undertaken in April 2016 that included clinical series of KCOTs reporting recurrences. Untransformed proportions and meta-analyses were performed to estimate the probability/risk of recurrence, according to several variables. Read More

    Use of anteromedial thigh perforator flap and immunological implications of Gorlin-Goltz syndrome: a case study.
    J Wound Care 2016 Dec;25(12):763-767
    Department of Plastic and Reconstructive Surgery, Politechnical University of Marche, Italy.
    Gorlin-Goltz syndrome is mainly characterised by the development of numerous multicentric and relapsing cutaneous basal cell carcinomas (BCCs). A major problem for patients with Gorlin-Goltz syndrome is the large amount of BCCs that can invade the deep underlying structures, especially the face. Here, we describe the case of a 23-year-old male affected by Gorlin-Goltz syndrome. Read More

    Targeting the Hedgehog Pathway for Locally Advanced and Metastatic Basal Cell Carcinoma.
    Curr Pharm Des 2017 ;23(4):655-659
    Orbital Oncology and Ophthalmic Plastic Surgery, Department of Plastic Surgery, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Unit 1488, Houston, Texas 77030. United States.
    Basal cell caricnoma (BCC), the most common periocular magliancy, is treated with complete surgical excision. However, in patients not amenable to surgery or when surgical resection means loss of vital organs or disfiguring procedures due to locally advanced or metastatic disease, targeting the hedgehog pathway offers a novel treatment approach for such patients. Mutation in PTCH1 and SMO has been identified in patients with basal cell nevoid syndrome as well as in patients with sporadic BCC. Read More

    Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome: Development of a Basal Cell Nevus Syndrome Patient Registry.
    JAMA Dermatol 2016 Nov 30. Epub 2016 Nov 30.
    Department of Dermatology, Stanford University School of Medicine, Stanford, California.
    Importance: Patients with basal cell nevus syndrome (BCNS) have a greater risk of developing numerous basal cell carcinomas (BCCs). Risk factors influencing the wide variation in tumor burden are poorly understood.

    Objective: To describe the burden of BCCs in patients with BCNS in the United States and identify potential risk factors for BCCs. Read More

    GLI1, a master regulator of the hallmark of pancreatic cancer.
    Pathol Int 2016 Dec 8;66(12):653-660. Epub 2016 Nov 8.
    Department of Pathology, Aichi Medical University School of Medicine, Nagakute, Aichi, Japan.
    Hedgehog signaling is highly conserved across species and governs proper embryonic development. Germline gene mutations that reduce this signaling activity cause a variety of developmental abnormalities such as holoprosencephaly, while those that enhance Hedgehog signaling activity induce a tumor-predisposition condition Nevoid basal cell carcinoma syndrome. Furthermore, dysregulated activation of Hedgehog signaling has been recognized in various sporadic malignancies, including pancreatic adenocarcinoma. Read More

    Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.
    Neuro Endocrinol Lett 2016 Sep;37(4):269-276
    Department of Stomatology, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
    Objectives: Identification of early presenting signs of the Basal Cell Nevus (BCNS; synonyme Gorlin-Goltz) syndrome, which is associated with a principal triad of multiple basal cell nevi, jaw odontogenic keratocysts, and skeletal anomalies, in stomatological and neurological practices. Proposal of multidisciplinary diagnostic algorithm comprising other medical specialists, including pathology, imaging, laboratory and molecular analyses based on the study outcomes.

    Design: Case report of a male patient reporting paresthesia of their lower jaw, with right facial asymmetry (maxilla and mandible) and radiological detection of large osteolytic lesions in both jaws, including a retrospective analysis of a representative Czech cohort with BCNS from within the last decade. 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

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