Gorlin’s syndrome

Sara Barraud, Brigitte Delemer, Céline Poirsier-Violle, Jérôme Bouligand, Jean-Claude Mérol, Florent Grange, Brigitte Higel-Chaufour, Bénédicte Decoudier, Mohamad Zalzali, Andrew A Dwyer, James S Acierno, Nelly Pitteloud, Robert P Millar, Jacques Young
BACKGROUND: Two loci (CHD7 and SOX10) underlying Kallmann syndrome (KS) were discovered through clinical and genetic analysis of CHARGE and Waardenburg syndromes, conditions that include congenital anosmia caused by olfactory bulb defects (CA/OBs) and congenital hypogonadotropic hypogonadism (CHH). We hypothesized that other candidate genes for KS could be discovered by analyzing rare syndromes presenting with these signs. STUDY DESIGN, SIZE, DURATION: We first investigated a family with Gorlin-Goltz syndrome (GGS) in which affected members exhibited clinical signs suggesting KS...
February 20, 2020: Neuroendocrinology
Sana Zeeshan, Syeda Namayah Fatima Hussain, Zeeshan Mughal, Shayan Sirat Maheen Anwar, Syed Nadir Naeem
INTRODUCTION: Bifurcated ribs are a neuroskeletal anomaly which are incidentally discovered on chest X-ray. It is a developmental disorder where sternal end of a rib is split into two, commonly found in males, on the right side and unilaterally not associated with a vertebral defect. PRESENTATION OF CASE: In this report we discuss a case of a 17-year-old girl with a left bifid rib alongside a segmental defect of the vertebra. DISCUSSION: Bifurcated ribs usually occur in isolation or with other rib abnormalities associated with vertebral defects...
February 7, 2020: International Journal of Surgery Case Reports
Emanuele Miraglia, Pietro Curatolo, Chiara Iacovino, Rosanna Careri, Stefano Calvieri, Sandra Giustini
No abstract text is available yet for this article.
February 13, 2020: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
Katlin Poladian, Thomas C Difato, Kathryn L Anderson, Sarah L Taylor
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant disorder that is characterized by multiple basal cell carcinomas developing at a young age, keratocystic odontogenic tumors of the jaw, palmar or plantar pits, calcification of the falx cerebri, and skeletal abnormalities. Nevoid basal cell carcinoma syndrome is caused by mutations in the PTCH1 or SUFU genes. Our patient with Fitzpatrick skin type VI was diagnosed with Gorlin syndrome based on the presentation of multiple major diagnostic characteristics...
November 15, 2019: Dermatology Online Journal
Stephanie Histed Chung, Nina Woldenberg, Antoinette R Roth, Rinat Masamed, Wendy Conlon, Joshua G Cohen, Melissa M Joines, Maitraya K Patel
In addition to the well-characterized BRCA1 and BRCA2 hereditary breast and ovarian cancer syndromes, many other syndromes that are associated with genetic mutations predispose individuals to an increased risk of breast and gynecologic malignancies. Many mutated genes encode for tumor-suppressor products and are inherited in an autosomal dominant manner. Mutations markedly increase an individual's lifetime risk of cancers in different organ systems, depending on the associated syndrome. These syndromes include Lynch syndrome, the most common hereditary cause of endometrial cancer, and Peutz-Jeghers syndrome, which increases the risks of breast cancer, ovarian cancer, and cervical adenoma malignum...
February 7, 2020: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Ran Zhang, Qiaolin Yang, Jiafei Qu, Yingying Hong, Peng Liu, Tiejun Li
OBJECTIVE: Odontogenic keratocysts (OKCs) are jaw lesions with a tendency to recur. PTCH1 gene mutations are common events in most OKCs; however, other genetic alterations underlying OKC pathogenesis have not yet been elucidated. BRAF p.V600E mutations have recently been detected in some odontogenic tumors, such as ameloblastoma and ameloblastic fibroma, although their involvement in OKC is still unclear. In this study we aimed to clarify the presence and/or frequency of BRAF p.V600E mutations in OKCs...
April 12, 2019: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Anna Maria Cesinaro, Giammarco Burtini, Antonino Maiorana, Giulio Rossi, Mario Migaldi
Gorlin-Goltz syndrome (GGS), is an autosomal dominant inherited disorder related to germline mutation of PTCH1 gene, characterised by the presence of multiple developmental anomalies and tumours, mainly basal cell carcinomas (BCC) and odontogenic keratocysts (OKC). We analysed and compared the expression of calretinin in 16 sporadic OKCs, from 15 patients, and 12 syndromic OKCs from 11 patients; in 19 BCC's and 2 cutaneous keratocysts (CKC) belonging to 4 GGS patients, 15 sporadic BCCs and 3 steatocystomas (SC)...
January 20, 2020: Annals of Diagnostic Pathology
Barbara Bellei, Silvia Caputo, Anna Carbone, Vitaliano Silipo, Federica Papaccio, Mauro Picardo, Laura Eibenschutz
Nevoid basal cell carcinoma syndrome (NBCCS), also named Gorlin syndrome, is a rare multisystem genetic disorder characterized by marked predisposition to basal cell carcinomas (BCCs), childhood medulloblastomas, maxillary keratocysts, celebral calcifications, in addition to various skeletal and soft tissue developmental abnormalities. Mutations in the tumor suppressor gene PATCHED1 ( PTCH1 ) have been found to be associated in the majority of NBCCS cases. PATCH1 somatic mutations and loss of heterozygosity are also very frequent in sporadic BCCs...
January 22, 2020: International Journal of Molecular Sciences
Fatema Malbari, Holly Lindsay
Central nervous system tumors are the most common solid tumors in pediatrics and represent the largest cause of childhood cancer-related mortality. Improvements have occurred in the management of these patients leading to better survival, but significant morbidity persists. With the era of next generation sequencing, considerable advances have occurred in the understanding of these tumors both biologically and clinically. This information has impacted diagnosis and management. Subgroups have been identified, improving risk stratification...
August 15, 2019: Pediatric Neurology
Kelsey Casano, Hannah Meddaugh, Regina M Zambrano, Michael Marble, Jairo I Torres, Yves Lacassie
Gorlin syndrome, also known as Nevoid Basal-Cell Carcinoma Syndrome (NBCCS), is an autosomal dominant tumor predisposition syndrome that presents early in life with characteristic congenital malformations and tumors. This syndrome most commonly results from germline mutations of the PTCH1 tumor suppressor gene, which shows high penetrance and great intra and interfamilial phenotypic variability, as well as the SUFU tumor suppressor gene. Recently, the PTCH2 gene has also been implicated as a cause of Gorlin syndrome...
January 13, 2020: European Journal of Medical Genetics
Alexander C Rokohl, Konrad R Koch, Joel M Mor, Niklas Loreck, Max Schlaak, Cornelia Mauch, Nikolaos E Bechrakis, Armin Mohi, Vinodh Kakkassery, Ludwig M Heindl
The aim of this article is to provide an overview on the current state of personalized medicine in the systemic treatment of selected periocular tumors, such as basal cell carcinoma, Merkel cell carcinoma and conjunctival melanoma. This article therefore provides an extensive current literature review from PubMed including the current guidelines and standard operating procedures (SOP). As 90% of basal cell carcinomas have a pathologic activation of the sonic hedgehog pathway, vismodegib is a new treatment option for inoperable or metastatic basal cell carcinoma and for patients with Gorlin-Goltz syndrome...
January 14, 2020: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
Zsuzsanna Gurdán, Gábor Gelencsér, Zsuzsanna Lengyel, József Szalma
Gorlin-Goltz syndrome is an autosomal dominant hereditary disease. Its leading symptoms include keratocysts of the jaws, multiple basal cell carcinomas, skeletal abnormalities, intracranial calcifications and dyskeratosis of the soles and palms. One of the most common and often firstly discovered symptoms is the single or multiplex keratocysts of the jaws. The authors present a case of a child, diagnosed in their orthodontic department. Despite the rare occurrence of the disease, an early detection is important, especially in young patients...
January 2020: Orvosi Hetilap
L-P Silva, L-S Rolim, L-A Silva, L-P Pinto, L-B Souza
BACKGROUND: Odontogenic keratocyst (OKC) is an odontogenic developmental cyst that presents distinct clinical behavior. This lesion has been described as dental cysts with keratinization since the 1930s, however the term OKC was established in 1956. This study aims to determine the frequency and features of OKC in children aged 0 to 14 years in an oral pathology service in Brazil. MATERIAL AND METHODS: A retrospective study was performed to review cases of OKC in children diagnosed between 1986 and 2017...
January 1, 2020: Medicina Oral, Patología Oral y Cirugía Bucal
Stephen L McDaniel, Allison J Hollatz, Anna M Branstad, Marissa M Gaskill, Catherine A Fox, Melissa M Harrison
Meier-Gorlin syndrome is a rare recessive disorder characterized by a number of distinct tissue-specific developmental defects. Genes encoding members of the origin recognition complex (ORC) and additional proteins essential for DNA replication (CDC6, CDT1, GMNN, CDC45, MCM5, and DONSON) are mutated in individuals diagnosed with MGS. The essential role of ORC is to license origins during the G1 phase of the cell cycle, but ORC has also been implicated in several non-replicative functions. Because of its essential role in DNA replication, ORC is required for every cell division during development...
December 9, 2019: Genetics
Christina Rohdenburg, Julia Liersch, Kerstin Kutsche, Joerg Schaller
Goltz-Gorlin syndrome (GGS) (focal dermal hypoplasia) is a very rare developmental disorder affecting ectodermal and mesodermal structures. The syndrome is inherited in an X-linked manner, with the majority of affected individuals being female. We report the case of a 51-year-old man presenting with congenital skin lesions, syndactyly, facial and thoracic asymmetry, inguinal and laryngeal papillomas, cryptorchidism, polythelia, and dental anomalies. Molecular genetic analysis confirmed the clinically suspected diagnosis of GGS by detecting a known pathogenic mutation in the PORCN gene, c...
November 26, 2019: American Journal of Dermatopathology
Karen M Knapp, Rosie Sullivan, Jennie Murray, Gregory Gimenez, Pamela Arn, Precilla D'Souza, Alper Gezdirici, William G Wilson, Andrew P Jackson, Carlos Ferreira, Louise S Bicknell
MATERIAL: Linked-read whole genome sequencing (WGS) presents a new opportunity for cost-efficient singleton sequencing in place of traditional trio-based designs while generating informative-phased variants, effective for recessive disorders when parental DNA is unavailable. METHODS: We have applied linked-read WGS to identify novel causes of Meier-Gorlin syndrome (MGORS), a condition recognised by short stature, microtia and patella hypo/aplasia. There are eight genes associated with MGORS to date, all encoding essential components involved in establishing and initiating DNA replication...
November 29, 2019: Journal of Medical Genetics
Caroline Galdes, Dillon Mintoff, Eileen Clark
A 76-year-old woman with intellectual deficit presented with a small, pearly, telangiectatic raised lesion on the left cheek, together with an ulcerated lesion on the right side of the nose (Figure 1), which were clinically diagnosed as basal cell carcinomas (BCCs.) These were treated with cryotherapy. The patient had had a right hemimandibulectomy (Figure 1), and she showed frontal and temporal bossing and a wide nasal bridge.
2019: Skinmed
Jaehui Ryu, Jung Min Ko, Choong-Ho Shin
BACKGROUND: Gorlin-Chaudhry-Moss syndrome (GCMS) and Fontaine-Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carrier family 25 member 24 (SLC25A24) gene was suggested to be the common genetic basis of both syndromes, it has been proposed recently that they be integrated into a single disorder under the name of Fontaine progeroid syndrome (FPS). CASE PRESENTATION: A 9-year-old Korean girl presented with typical clinical features of FPS...
November 27, 2019: BMC Medical Genetics
Hajime Ikehara, Katsunori Fujii, Toshiyuki Miyashita, Yu Ikemoto, Marina Nagamine, Naoki Shimojo, Akihiro Umezawa
The hedgehog signaling pathway is a vital factor for embryonic development and stem cell maintenance. Dysregulation of its function results in tumor initiation and progression. The aim of this research was to establish a disease model of hedgehog-related tumorigenesis with Gorlin syndrome-derived induced pluripotent stem cells (GS-iPSCs). Induced neural progenitor cells from GS-iPSCs (GS-NPCs) show constitutive high GLI1 expression and higher sensitivity to smoothened (SMO) inhibition compared with wild-type induced neural progenitor cells (WT-NPCs)...
November 22, 2019: Laboratory Investigation; a Journal of Technical Methods and Pathology
Ivan J Stojanov, Inga-Marie Schaefer, Reshma S Menon, Jay Wasman, Hamza N Gokozan, Elizabeth P Garcia, Dale A Baur, Sook-Bin Woo, Lynette M Sholl
Keratocystic odontogenic tumors (KCOTs) are locally aggressive odontogenic neoplasms with recurrence rates of up to 60%. Approximately 5% of KCOTs are associated with nevoid basal cell carcinoma (Gorlin) syndrome and 90% of these show genomic inactivation of the PTCH1 gene encoding Patched 1. Sporadic KCOTs reportedly have PTCH1 mutations in 30% of cases, but previous genomic analyses have been limited by low tumor DNA yield. The aim of this study was to identify recurrent genomic aberrations in sporadic KCOTs using a next-generation sequencing panel with complete exonic coverage of sonic hedgehog (SHH) pathway members PTCH1, SMO, SUFU, GLI1, and GLI2...
November 12, 2019: American Journal of Surgical Pathology
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