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J Oral Maxillofac Pathol 2020 Sep-Dec;24(3):591. Epub 2021 Jan 9.

Department of Oral Surgery, Government Dental College, Raipur, Chhattisgarh, India.

Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. The syndrome is caused by mutations in PTCH, a tumor suppressor gene that has been mapped to chromosome 9q22.3-q31. Read More

Am J Med Genet A 2021 May 7. Epub 2021 May 7.

Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Queensland, Australia.

Basal cell nevus syndrome (also known as Gorlin Syndrome; MIM109400) is an autosomal dominant disorder characterized by recurrent pathological features such as basal cell carcinomas and odontogenic keratocysts as well as skeletal abnormalities. Most affected individuals have point mutations or small insertions or deletions within the PTCH1 gene on human chromosome 9, but there are some cases with more extensive deletion of the region, usually including the neighboring FANCC and/or ERCC6L2 genes. We report a 16-year-old patient with a deletion of approximately 400,000 bases which removes only PTCH1 and some non-coding RNA genes but leaves FANCC and ERCC6L2 intact. Read More

Arch Craniofac Surg 2021 Apr 20;22(2):122-125. Epub 2021 Apr 20.

Department of Plastic and Reconstructive Surgery, Wonkwang University Hospital, Iksan, Korea.

Basal cell nevus syndrome (BCNS), also known as basal cell carcinoma nevus syndrome, Gorlin syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma, is a rare autosomal dominant disorder with a prevalence of approximately 1/60,000. A lower prevalence rate of 1/13,939,393 has also been reported in Korea. We report the case of a 40-year-old male patient with multiple black pigmented macules on the face that first appeared when he was a teenager. Read More

Radiol Clin North Am 2021 May;59(3):471-500

Department of Radiology and Medical Imaging, University of Virginia Health System, 1215 Lee Street, Charlottesville, VA 22903, USA. Electronic address:

Tumor predisposition syndromes represent a heterogeneous group of multiorgan disorders, with many having substantial central nervous system involvement. This article highlights the common and uncommon manifestations of these syndromic disorders, the underlying genetic pathways, and the imaging findings. Radiologists must be aware of the diagnostic criteria, optimal imaging techniques (both for diagnosis and surveillance), as well as the innumerable imaging manifestations of these syndromes. Read More

Curr Probl Cancer 2021 Apr 1:100736. Epub 2021 Apr 1.

Department of Medical Oncology, St James Hospital, Dublin 8, Ireland; Trinity College Dublin, Ireland.

Basal cell carcinomas occur in up to 39% of Caucasian men and 28% of women. Rarely it can present a management dilemma in patients with neglected locally advanced disease of large dimension or involvement of critical structures. The Hedgehog pathway is constitutively active in almost all basal cell carcinomas and patients with Naevoid Basal Cell Carcinoma Syndrome have germline mutations in the Patched tumor suppressor gene, a Hedgehog pathway component, on chromosome 9q. Read More

Am J Case Rep 2021 Apr 22;22:e928670. Epub 2021 Apr 22.

School of Dentistry, Federal University of Pará (UFPA), Belém, PA, Brazil.

BACKGROUND Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin-Goltz syndrome (GGS), is an inherited autosomal dominant disorder caused by mutations in the patched (PTCH) tumor-suppressor gene, which has high penetrance and variable phenotypic expressivity. In 1960, Gorlin and Goltz defined the condition by 3 main characteristics: multiple basal cell carcinomas, odontogenic keratocyst (OKC), and skeletal anomalies. Nowadays, many neurologic, ophthalmic, endocrine, and genital manifestations are known to be associated with this syndrome. Read More

Neuro Oncol 2021 Mar 17. Epub 2021 Mar 17.

Department of Dermatology, Maastricht University Medical Center, Maastricht, the Netherlands.

Hua Xi Kou Qiang Yi Xue Za Zhi 2021 Apr;39(2):230-232

Dept. of Oral and Maxillofacial Surgery, Hospital of Stomatology, Kunming Medical University, Kunming 650000, China.

Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, is a rare autosomal dominant genetic disease. It is thought to be caused by a mutation in the PTCH1 gene, and its incidence is 1/57 000 to 1/256 000. The case of a 7-year-old patient with BCNS and Duchenne muscular dystrophy was reported in this paper. Read More

Eye Brain 2021 29;13:71-78. Epub 2021 Mar 29.

Department of Sense Organs, Faculty of Medicine and Odontology, Sapienza University of Rome, Rome, 00161, Italy.

Introduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.

Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies. Read More

Orbit 2021 Apr 4. Epub 2021 Apr 4.

Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Clin Oral Investig 2021 Mar 17. Epub 2021 Mar 17.

Department of Oral Medicine and Pathology, Faculty of Dentistry, National and Kapodistrian University of Athens, Athens, Greece.

Objectives: To provide a systematic review of the literature on studies comparing the immunoprofile of nevoid basal cell carcinoma syndrome (BCNS)-associated and sporadic odontogenic keratocysts (OKCs), in order to identify markers that could accurately distinguish the two OKC subtypes.

Materials And Methods: We searched MEDLINE/Pubmed, Web of Science, EMBASE via OVID, and grey literature for publications until December 28th, 2019, that compared the immunohistochemical expression of the two OKC subtypes. The studies were qualitatively assessed using the Critical Appraisal Tool for Case Series (Joana Briggs Institute). Read More

Am J Dermatopathol 2021 Feb 16. Epub 2021 Feb 16.

Department of Dermatology, Georgetown University School of Medicine, Washington, DC; Department of Dermatology, MedStar Washington Hospital Center, Georgetown University Hospital, Washington, DC; Aurora Diagnostics/MidAtlantic Pathology Services, Sterling, VA; and Children's National Medical Center, Washington, DC.

Abstract: Although not a diagnostic criterion for basal cell nevus syndrome (BCNS, OMIM#109400), cutaneous cysts, particularly epidermoid cysts, are common in this condition. Cutaneous keratocysts, on the other hand, are extremely rare in general and have been identified in only 5 patients with BCNS. Here, we describe a BCNS patient with a cutaneous keratocyst that demonstrated D2-40 (podoplanin) immunoreactivity, which has been detected in odontogenic keratocysts but not cutaneous keratocysts. Read More

J Am Acad Dermatol 2021 Feb 11. Epub 2021 Feb 11.

Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.

Phacomatosis pigmentokeratotica (PPK) is defined by the association of papular nevus spilus arranged in a flag-like pattern and sebaceous nevus following Blaschko's lines. A systematic search of the worldwide literature retrieved 95 well-established PPK cases. An additional 30 cases were excluded for a number of reasons. Read More

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2021 Feb 4. Epub 2021 Feb 4.

Department of Pathology, Faculty of Medicine and Dentistry, Palacky University Olomouc, Czech Republic.

Aims: The detection of odontogenic keratocysts (OKC) in the oral cavity is one of the main criteria for the clinical manifestation of Gorlin-Goltz syndrome (Nevoid Basal Cell Carcinoma Syndrome - NBCCS). From a clinical point of view, we distinguish between "syndromic" and "sporadic" OKC. Syndromic cysts, often multifocal, may be an accidental finding on X-ray examination. Read More

Br J Cancer 2021 Mar 19;124(7):1199-1206. Epub 2021 Jan 19.

Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands.

Background: Vismodegib has been used for the treatment of locally advanced basal cell carcinoma (laBCC) and metastatic BCC (mBCC) since 2011. Most efficacy and safety data are provided by clinical trials. This study evaluates the effectiveness of vismodegib for the treatment of laBCC, mBCC and basal cell nevus syndrome (BCNS) patients, and the tumour characteristics associated with a higher probability of achieving a complete response in the Netherlands. Read More

J Oral Maxillofac Pathol 2020 May-Aug;24(2):315-321. Epub 2020 Sep 9.

Department of Oral Pathology and Microbiology, RUHS College of Dental Sciences (Government Dental College and Hospital), Jaipur, Rajasthan, India.

Nevoid basal-cell carcinoma syndrome (NBCCS) or Gorlin-Goltz syndrome is an autosomal dominant-inherited condition that exhibits high penetrance and variable expressivity; however, this disorder can arise spontaneously. In 1960, Gorlin and Goltz described the syndrome as a condition, comprising the principle triad of multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. The diagnostic findings of NBCCS in four patients were studied and compared with other reports in the Indian population. Read More

J Oral Maxillofac Pathol 2020 May-Aug;24(2):273-278. Epub 2020 Sep 9.

Public Health Dentistry, School of Dental Sciences, Krishna Institute of Medical Sciences Deemed University, Malkapur, Maharashtra, India.

Background: Odontogenic keratocyst (OKC) is a benign intraosseous lesions (within the jaw bone) of odontogenic origin that account for about 10% of jaw cysts. They are characterized by an aggressive behavior with a relatively high recurrence rate. Early diagnosis and follow-up of the patient with OKC is important because the possibility of such patient there is develop to other features of Nevoid basal cell carcinoma syndrome in future. Read More

Sci Rep 2021 Jan 13;11(1):1163. Epub 2021 Jan 13.

Department of Dermatology, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, South Korea.

Nevoid basal cell carcinoma syndrome (NBCCS) is mainly characterised by multiple basal cell carcinomas (BCCs) caused by PTCH1, PTCH2, and SUFU. However, clinical and genetic data on Asian NBCCS patients are limited. We aimed to analyse the clinical phenotypes and genetic spectrum of Korean patients with NBCCS. Read More

Hum Genome Var 2020 Nov 18;7(1):38. Epub 2020 Nov 18.

Oral and Maxillofacial Surgery, Hiroshima University Hospital, Hiroshima, Japan.

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant manner and is characterized by a combination of developmental abnormalities and a predisposition to tumor formation. Hedgehog receptor Patched 1 (PTCH1) has been identified as the mutated gene in NBCCS. We identified the PTCH1_c. Read More

Orv Hetil 2020 12 6;161(49):2072-2077. Epub 2020 Dec 6.

1 Általános Orvostudományi Kar, Arc-, Állcsont- és Szájsebészeti Klinika, Szegedi Tudományegyetem, Szeged, Kálvária sgt. 57., 6725.

Összefoglaló. A Gorlin-Goltz-szindróma - más néven naevoid basalsejtes carcinoma szindróma - egy ritka, viszont számos orvosi társszakmát érintő, rendkívül változatos megjelenésű és genetikailag is heterogén betegség. Bár a tudományos kutatások egyik kedvenc területe, az aránylag alacsony betegszám, valamint a genotípus és a fenotípus közötti, igen komplex összefüggések miatt a kórképről meglévő ismereteink még nem teljesek. Read More

Dermatol Ther 2020 11 12;33(6):e14499. Epub 2020 Nov 12.

Department of Dermatology, Venereology and Allergology, Wroclaw Medical University, Wroclaw, Poland.

Introduction: Conventional methods of basal cell carcinomas (BCC) treatment bring many severe side effects, especially, if they are repeated many times. The aim of this study is to present the clinical effectiveness of photodynamic method in the treatment and prevention of BCC relapses on the face and to propose a management algorithm.

Methods: In a patient with Gorlin-Goltz syndrome (NBCCS) lesions on the face were assessed clinically and with photodynamic diagnostics (PDD), initially and in follow-up every 3 months, for a total of 12 months. Read More

Epilepsy Behav Rep 2020 7;14:100384. Epub 2020 Aug 7.

Department of Neurosciences, University of Montreal Hospital Research Centre, 900 St-Denis Street, Montreal, Quebec H2X 0A9, Canada.

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with several neurological, cutaneous and skeletal manifestations. Epilepsy has been previously reported as a finding in Gorlin-Goltz syndrome but remains ill-described in the context of this disease. We report two new patients with Gorlin-Goltz syndrome featuring epilepsy and review the existing literature on the topic. Read More

J Dermatolog Treat 2020 Nov 1:1-2. Epub 2020 Nov 1.

GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.

Int J Mol Sci 2020 Oct 13;21(20). Epub 2020 Oct 13.

Department of Biochemistry, Tokyo Dental College, 2-9-18 Kandamisaki-cho Chiyoda-ku, Tokyo 101-0061, Japan.

Gorlin syndrome is a skeletal disorder caused by a gain of function mutation in Hedgehog (Hh) signaling. The Hh family comprises of many signaling mediators, which, through complex mechanisms, play several important roles in various stages of development. The Hh information pathway is essential for bone tissue development. Read More

J Cutan Pathol 2021 Mar 17;48(3):390-395. Epub 2020 Nov 17.

Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Basal cell nevus syndrome (BCNS) is an autosomal dominant condition caused most often by a loss-of-function mutation in the Patched-1 (PTCH1) gene. It is characterized by the development of varied benign and malignant tumors, including numerous cutaneous basal cell carcinomas (BCCs). The PTCH1 gene is integral in hair follicle development and loss of function mutation may lead to BCCs with an infundibulocystic histopathology in BCNS patients. Read More

Clin Dermatol 2020 Jul - Aug;38(4):467-476. Epub 2020 Mar 25.

Division of Dermatologic Surgery, Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Basal cell nevus syndrome, also known as Gorlin syndrome, is a hereditary cancer syndrome associated with multiple basal cell carcinomas, congenital defects, and nondermatologic tumors. This disease is autosomal dominant with variable expressivity and is caused by abnormalities in the sonic hedgehog signaling pathway. Management requires a multidisciplinary approach and should include the biopsychosocial needs of patients and their families. Read More

Clin Dermatol 2020 Jul - Aug;38(4):432-454. Epub 2020 Mar 30.

Department of Dermatology, University of Missouri School of Medicine, Columbia, Missouri, USA. Electronic address:

The hereditary nature of some forms of cancer was recognized long ago. Over time, recognition of associated findings led to the delineation of numerous hereditary cancer syndromes. Many of these syndromes also have cutaneous manifestations, the recognition of which can lead to their early identification. Read More

Childs Nerv Syst 2021 Feb 15;37(2):411-417. Epub 2020 Sep 15.

Department of neurosurgery, Beijing TianTan Hospital, Capital Medical University, Beijing, 100050, People's Republic of China.

Purpose: To investigate the incidence rate of hereditary disease in patients with medulloblastoma.

Methods: The genetic reports of 129 patients with medulloblastoma from January 2016 to December 2019 were retrospectively analyzed. A panel sequence of 39 genes (Genetron Health) were used for all patients to evaluate the tumor subgroup. Read More

Adv Exp Med Biol 2020 ;1268:171-191

Clinic and Policlinic of Dermatology and Venerology, University Medical Center Rostock, Rostock, Germany.

The prevalent keratinocyte-derived neoplasms of the skin are basal cell carcinoma and squamous cell carcinoma. Both so-called non-melanoma skin cancers comprise the most common cancers in humans by far. Common risk factors for both tumor entities include sun exposure, DNA repair deficiencies leading to chromosomal instability, or immunosuppression. Read More