3
views
0
recommends
+1 Recommend
1 collections
    0
    shares
      Are you tired of sifting through news that doesn't interest you?
      Personalize your Karger newsletter today and get only the news that matters to you!

      Sign up

      • Record: found
      • Abstract: found
      • Article: found

      Exceptional Bone Metastasis of Basal Cell Carcinoma in Gorlin-Goltz Syndrome

      case-report

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Background: Basal cell carcinoma (BCC), the most prevalent form of cancer worldwide, is a malignant skin neoplasm. It is locally invasive, with an exceptional incidence of reported metastasis. It can also be part of the Gorlin-Goltz syndrome, an autosomal dominant genetic disorder with high penetrance and variable expressivity, which is principally characterized by cutaneous BCC, odontogenic keratocysts, palmar and/or plantar pits, and falx cerebri calcification. Observation: We report the exceptional clinical observation of a 54-year-old man presenting bone metastasis from BCC in Gorlin-Goltz syndrome. Conclusion: Less than 300 cases of metastatic BCC have been reported in the literature. The present case is the second associated with Gorlin-Goltz syndrome.

          Related collections

          Most cited references8

          • Record: found
          • Abstract: found
          • Article: found
          Is Open Access

          Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

          Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic therapy and topical chemotherapy. Radiotherapy should be avoided. Vitamin A analogs may play a preventive role against development of new BCCs. Life expectancy in NBCCS is not significantly altered but morbidity from complications can be substantial. Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered. Patients with NBCCS should strictly avoid an excessive sun exposure.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Nevoid basal cell carcinoma syndrome: a review of the literature.

            The nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin-Goltz Syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. The present report reviews current knowledge of this disorder that has profound relevance to specialists in Oral and Maxillo-Facial Surgery, Oral Medicine and Radiology.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Metastatic basal cell carcinoma: report of two cases and literature review.

              Metastatic basal cell carcinoma (MBCC) is defined as primary cutaneous basal cell carcinoma (BCC) that spreads to distant sites as histologically similar metastatic deposits of BCC. There are less than 300 reported cases of MBCC in the literature. This article examines two cases of MBCC and provides a literature review of risk factors inherent in epidemiology, patient demographics, and the clinicohistopathological characteristics of primary and metastatic BCC lesions. MBCC is a rare complication of BCC with high morbidity and mortality rates. Patients with MBCC often begin with long-standing primary BCC lesions that are either large or recurrent after treatment. Cases of MBCC have a higher incidence of the more aggressive histologic patterns (morpheic, infiltrating, metatypical, and basosquamous). Perineural space invasion may be an indicator of aggressive disease. Metastases often involve regional lymph nodes, lungs, bone, and skin. These case reports and review provide important diagnostic and management considerations for primary BCC and MBCC. Early intervention with aggressive treatment measures may improve the prognosis and survival of MBCC patients.
                Bookmark

                Author and article information

                Journal
                DRM
                Dermatology
                10.1159/issn.1018-8665
                Dermatology
                S. Karger AG
                1018-8665
                1421-9832
                2010
                January 2010
                04 December 2009
                : 220
                : 1
                : 57-59
                Affiliations
                aGérontopôle, Department of Geriatric Medicine, and bDepartment of Dermatology, CHU Toulouse, and cInserm U558, University of Toulouse III, Toulouse, France
                Article
                264669 Dermatology 2010;220:57–59
                10.1159/000264669
                19996568
                c5f17f55-4d8e-454b-b736-c989769b15cb
                © 2009 S. Karger AG, Basel

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                History
                : 11 May 2009
                : 28 September 2009
                Page count
                Figures: 2, References: 16, Pages: 3
                Categories
                Case Report

                Oncology & Radiotherapy,Pathology,Surgery,Dermatology,Pharmacology & Pharmaceutical medicine
                Nevoid basal cell carcinoma syndrome,Radiotherapy,Metastasis,Basal cell carcinoma,Gorlin-Goltz syndrome

                Comments

                Comment on this article