Curr Opin Pediatr 2017 May 18. Epub 2017 May 18.

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

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

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

Oral Dis 2017 Apr 27. Epub 2017 Apr 27.

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

Minerva Pediatr 2017 Apr 20. 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

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

J Med Genet 2017 Mar 31. 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

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

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

Intern Med J 2017 Mar 22. Epub 2017 Mar 22.

Department of Genetic Medicine, Royal Melbourne Hospital, Parkville, VIC, 3050, Australia.

Background: Gorlin syndrome (Nevoid Basal Cell Carcinoma Syndrome) is a rare genetic predisposition to basal cell carcinomas (BCCs), keratocysts of the jaw and calcification of the falx cerebri amongst other clinical features. With the advent of sonic hedgehog inhibitors for the treatment of BCCs, 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

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

Nucl Med Rev Cent East Eur 2017 ;20(1):64-65

Nuclear Medicine Department Human Anatomy Department Medical University of Lublin.

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

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

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

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

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

Clin Exp Dermatol 2017 Mar 2;42(2):203-205. Epub 2017 Jan 2.

Department of Dermatology, Medical University of Graz, Graz, Austria.

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

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

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

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

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

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

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

Int J Clin Pediatr Dent 2016 Jul-Sep;9(3):264-268. Epub 2016 Sep 27.

Associate Professor, Department of Oral Pathology, NIMS Dental College, Jaipur Rajasthan, India.

Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant trait caused due to mutations in the patched tumor suppressor gene (PTCH) gene found on the long arm of chromosome 9. The syndrome is characterized by the presence of odontogenic keratocysts (OKCs), basal cell carcinomas, and skeletal malformations. Early diagnosis of the syndrome can be done by pedodontist as OKC is one of the early manifestations of the syndrome. Read More

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

Lancet Oncol 2016 Dec 10;17(12):1631-1632. Epub 2016 Nov 10.

Departments of Dermatology and Head and Neck Surgery, MD Anderson Cancer Center, Houston, TX 77030, USA.

Cancers (Basel) 2016 Oct 22;8(10). Epub 2016 Oct 22.

Dermatology Centre, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester M6 8HD, UK.

Non-melanoma skin cancer (NMSC) is the most common malignancy among the Caucasian population. Photodynamic therapy (PDT) is gaining popularity for the treatment of basal cell carcinoma (BCC), Bowen's disease (BD) and actinic keratosis (AK). A topical or systemic exogenous photosensitiser, results in selective uptake by malignant cells. Read More

J Eur Acad Dermatol Venereol 2016 Oct 2;30(10):e53-e55. Epub 2015 Sep 2.

Private Practice, Maldegem, Belgium.

Cureus 2016 Sep 7;8(9):e770. Epub 2016 Sep 7.

Department of Dermatology, University of California, San Diego.

Basal cell carcinoma (BCC) typically occurs in sun-exposed sites. Only 16 individuals with umbilical BCC have been described in the literature, and the characteristics of patients with umbilical BCC are summarized. PubMed was used to search the following terms: abdomen, basal cell carcinoma, basal cell nevus syndrome, and umbilicus. Read More

J Clin Diagn Res 2016 Aug 1;10(8):ZD28-30. Epub 2016 Aug 1.

Assistant Director, Department of Pathology, Musashino Red Cross Hospital , Tokyo, Japan .

Keratocystic Odontogenic Tumour (KCOT) is unicystic or multicystic intraosseous benign tumour of odontogenic origin that recurs due to locally destructive behaviour. KCOTs are usually the first manifestation of Nevoid Basal Cell Carcinoma Syndrome (NBCCS), an autosomal dominant disorder also known as Gorlin's syndrome and they are most frequently observed familial symptom regardless of patients' nationality. In addition, the recurrence rate and multiplicity of KCOTs is relatively high as compared to that of other sporadic carcinomas. Read More

J Clin Diagn Res 2016 Aug 1;10(8):ZD16-8. Epub 2016 Aug 1.

Lecturer, Department of Oral and Maxillofacial Surgery, Sri Aurobindo College of Dentistry , Indore, Madhya Pradesh, India .

Odontogenic Keratocyst (OKC) also termed as Keratocystic Odontogenic Tumour (KCOT) (WHO 2005) is a pathology with unique behavior because of which it is under much scrutiny and continued study. The pathology usually presents itself commonly in mandible and less commonly in maxilla. The occurrence of KCOT in maxillary sinus is reported as rare and multiple occurrences are mostly associated along with the presence of Nevoid Basal Cell Carcinoma (NBCC) syndrome. Read More

Cureus 2016 Aug 8;8(8):e727. Epub 2016 Aug 8.

Oral Medicine and Radiology, Nair Hospital Dental College.

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder, characterized by skeletal anomalies and multiple keratocystic odontogenic tumors of the jaws. The skeletal anomalies of this syndrome are mandibular prognathism, bossing of frontal and parietal bones, high-arched palate, and bifid rib. We report three cases with NBCCS, emphasizing the clinical and radiographic findings, the importance of the early diagnosis of NBCCS, and a preventive multidisciplinary approach in the management of NBCCS. Read More

Orphanet J Rare Dis 2016 Sep 1;11(1):120. Epub 2016 Sep 1.

Mayo Clinic, 13400 East Shea Boulevard, Scottsdale, AZ, 85259, USA.

Background: Aberrant activation of the Hedgehog (Hh) pathway is a key driver in the pathogenesis of basal cell carcinomas (BCCs), including patients with BCC nevus syndrome (BCCNS). It is unclear whether BCCs arising in patients with BCCNS respond differently to vismodegib than in patients without BCCNS. We examined the best overall response rate (BORR) and adverse events (AEs) of vismodegib in patients with advanced BCC (aBCC) with and without BCCNS. Read More

An Bras Dermatol 2016 Jul-Aug;91(4):541-3

Hospital Santa Casa de Misericórdia de Vitória (HSCMV) - Vitória (ES), Brazil.

The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. Read More

Ann Maxillofac Surg 2016 Jan-Jun;6(1):120-4

Department of Oral and Maxillofacial Surgery, Mar Baselios Dental College, Kothamangalam, Ernakulam, Kerala, India.

Gorlin-Goltz syndrome due to its high variability in expression are often not diagnosed as the syndrome and often managed same as that of odontogenic keratocyst. But a more careful approach for the syndrome is needed as there is high chance of malignant changes owing to improper management of the syndrome. In this manuscript a case report of Gorlin-Goltz syndrome with the diagnostic features of the same in Indian population along with the difference in treatment protocol from treating an odontogenic keratocyst is described with review of literature. Read More

Fam Cancer 2017 Jan;16(1):131-138

Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan.

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis such as medulloblastomas and basal cell carcinomas, caused by mutations of the patched-1 (PTCH1) gene. To date, we have detected 73 mutations in PTCH1 and ten of them (14 %) were suspected splicing mutations. Eight out of the ten mutations were localized near the splice donor site. Read More

Hered Cancer Clin Pract 2016 23;14(1):17. Epub 2016 Aug 23.

N.N. Petrov Institute of Oncology, Pesochny-2, St. Petersburg, 197758 Russia ; St. Petersburg Pediatric Medical University, St. Petersburg, 194100 Russia ; I.I. Mechnikov North-Western Medical University, St. Petersburg, 191015 Russia ; St. Petersburg State University, St. Petersburg, 199034 Russia.

There is a number of drugs demonstrating specific activity towards hereditary cancers. For example, tumors in BRCA1/2 mutation carriers usually arise via somatic inactivation of the remaining BRCA allele, which makes them particularly sensitive to platinum-based drugs, PARP inhibitors (PARPi), mitomycin C, liposomal doxorubicin, etc. There are several molecular assays for BRCA-ness, which permit to reveal BRCA-like phenocopies among sporadic tumors and thus extend clinical indications for the use of BRCA-specific therapies. Read More

Retin Cases Brief Rep 2017 Winter;11 Suppl 1:S151-S154

*Department of Ophthalmology, Henry Ford Hospital, Detroit, Michigan; and †Retina Consultants of Michigan, Southfield, Michigan.

Purpose: To report a case of epiretinal membrane and myelinated nerve fiber layer, which preceded the diagnosis of basal cell nevus syndrome, in a young girl.

Methods: Observational case report.

Results: A 12-year-old girl was referred for an asymptomatic epiretinal membrane. Read More

World J Surg Oncol 2016 Aug 12;14(1):215. Epub 2016 Aug 12.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, 6 Tiantan xili, Chonwen District, Beijing, 100050, China.

Background: Very young children with Gorlin syndrome are at risk for developing medulloblastoma. Patients with Gorlin syndrome may have multiple system abnormalities, including basal cell carcinomas, jaw cysts, desmoplastic medulloblastoma, palmar/plantar pits, rib abnormalities, and intracranial falx calcification. The early diagnosis of Gorlin syndrome in desmoplastic medulloblastoma patients is very important because these patients should receive chemotherapy as a first-line treatment and should avoid radiotherapy as much as possible. Read More

Dermatology 2016 11;232 Suppl 1:29-31. Epub 2016 Aug 11.

Department of Dermatology, University Hospital Inselspital, University of Bern, Bern, Switzerland.

Background: Gorlin syndrome, also known as the basal cell nevus syndrome (OMIM #109400), is a rare autosomal-dominant genetic disease. The disease, which shows mutation of the patched receptor gene (PTCH1) of the sonic hedgehog pathway, is characterized by developing multiple basal cell carcinomas (BCCs) in adolescent patients. Other clinical features include mandibular keratocysts, palmar and plantar pits, skeletal abnormalities and malformations central nervous system and genital tract. Read More

Indian J Pathol Microbiol 2016 Jul-Sep;59(3):335-8

Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.

Gorlin-Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. Read More

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

Childs Nerv Syst 2016 Dec 21;32(12):2439-2446. Epub 2016 Jul 21.

The Divisions of Hematology/Oncology/BMT, Neurosurgery and Neuropathology, the Departments of Pediatrics, Surgery and Pathology, Nationwide Children's Hospital and The Ohio State University, Columbus, OH, USA.

Introduction: Individuals with Down syndrome (DS) have an increased risk of acute leukemia compared to a markedly decreased incidence of solid tumors. Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case. As demonstrated in a mouse model, DS is associated with cerebellar hypoplasia and a decreased number of cerebellar granule neuron progenitor cells (CGNPs) in the external granule cell layer (EGL). Read More

Radiographics 2016 Jul-Aug;36(4):1195-214

From the Mallinckrodt Institute of Radiology (K.M.S., E.F.S., G.K.) and Department of Pathology (A.S., J.A.C.), Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131-MIR, St Louis, MO 63110.

Pediatric fibroblastic and myofibroblastic tumors are a relatively common group of soft-tissue proliferations that are associated with a wide spectrum of clinical behavior. These tumors have been divided into the following categories on the basis of their biologic behavior: benign (eg, myositis ossificans, myofibroma, fibromatosis colli), intermediate-locally aggressive (eg, lipofibromatosis, desmoid fibroma), intermediate-rarely metastasizing (eg, inflammatory myofibroblastic tumors, infantile fibrosarcoma, low-grade myofibroblastic sarcoma), and malignant (eg, fibromyxoid sarcoma, adult fibrosarcoma). Imaging has a key role in the evaluation of lesion origin, extent, and involvement with adjacent structures, and in the treatment management and postresection surveillance of these tumors. Read More

J Craniofac Surg 2016 Jul;27(5):1361-6

*Departments of Oral Medicine and Oral Pathology†Oral Maxillofacial Surgery, Faculty of Dentistry, Universiti Kebangsaan Malaysia, Selangor‡Department of Oral Maxillofacial Surgery, Universiti Kebangsaan Malaysia Medical Centre§Stomatology Unit, Cancer Research Centre, Institute for Medical Research||Pediatrics Department, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia.

Unlabelled: The aim of this study was to describe the clinical features and expression of bcl-2, cyclin D1, p53, and proliferating cell nuclear antigen (PCNA) antibodies in syndromic (nevoid basal cell carcinoma syndrome [NBCCS]) and nonsyndromic patients diagnosed with keratocystic odontogenic tumor (KCOT).

Methods: This descriptive study comprised 5 patients of KCOT associated with NBCCS and 8 patients of nonsyndromic type treated in the Department of Oral Maxillofacial Surgery, Universiti Kebangsaan Malaysia Medical Centre between years 1998 and 2011. The clinical features (site, size, treatment, and recurrence), demographic characteristics, and immunohistochemistry results using antibodies of bcl-2, cyclin D1, p53, and PCNA were examined. Read More

Cancer Prev Res (Phila) 2016 Oct 7;9(10):794-802. Epub 2016 Jul 7.

Department of Dermatology, Columbia University Medical Center, New York, New York.

Patients with basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, develop numerous basal cell carcinomas (BCC) due to germline mutations in the tumor suppressor PTCH1 and aberrant activation of Hedgehog (Hh) signaling. Therapies targeted at components of the Hh pathway, including the smoothened (SMO) inhibitor vismodegib, can ablate these tumors clinically, but tumors recur upon drug discontinuation. Using SKH1-Ptch1(+/-) as a model that closely mimics the spontaneous and accelerated growth pattern of BCCs in patients with BCNS, we show that AKT1, a serine/threonine protein kinase, is intrinsically activated in keratinocytes derived from the skin of newborn Ptch1(+/-) mice in the absence of carcinogenic stimuli. Read More

J Pediatr 2016 Jul;174:239

Department of Pediatrics, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.

Pediatr Dermatol 2016 Jul 31;33(4):e256-7. Epub 2016 May 31.

Division of Dermatology, School of Medicine, Washington University, St. Louis, Missouri.

We report a case of myelodysplastic syndrome (MDS) occurring in an African American boy with Gorlin syndrome with a novel PTCH1 mutation. Before developing MDS, the patient had been treated with chemotherapy and radiation for a medulloblastoma. He received a bone marrow transplant for the MDS and eventually died of treatment complications. Read More