Sentinel Lymph Node Biopsy for Squamous Cell Carcinoma of the Extremities: Case Report and Review of the Literature

Total Page:16

File Type:pdf, Size:1020Kb

Sentinel Lymph Node Biopsy for Squamous Cell Carcinoma of the Extremities: Case Report and Review of the Literature ANTICANCER RESEARCH 31: 1443-1446 (2011) Sentinel Lymph Node Biopsy for Squamous Cell Carcinoma of the Extremities: Case Report and Review of the Literature YANG YANG LIU, WARREN M. ROZEN and RICHARD RAHDON Department of Plastic and Reconstructive Surgery, Geelong Hospital, Victoria, Australia Abstract. Background: Lymph node metastases from of SCC of the ear, for example, reaching 18.7% (3). Early squamous cell carcinoma (SCC) can reach 20% in some high detection of metastasis in high-risk SCC groups is vital to risk subgroups, and while early detection of metastasis may formulating effective management plans and potentially potentially improve overall and/or disease-specific survival, improving overall and/or disease-specific survival. techniques for early detection have not been established. One One such technique for the early detection of lymph node such technique is the use of sentinel lymph node biopsy metastasis is the use of sentinel lymph node biopsy (SLNB), (SLNB), however its role for SCC of the extremities has not which can identify the presence of nodal metastasis in the first been explored. Materials and Methods: A case that highlights tier of the draining lymphatic basin in a relatively non-invasive the utility of SLNB in this setting is described, and a systematic manner. This technique has been shown to be of value in breast review of the literature was undertaken in order to establish the carcinoma and melanoma. However, the role of SLNB in SCC current evidence for its use. Results: There have been no management has not been as widely explored. The head and prospective clinical trials performed to investigate the role of neck has been the focus of much of the literature to date on the SLNB in this setting. Thirty-two cases utilizing SLNB for use of SLNB for SCC, with no consensus as to its particular peripheral SCCs have been reported, with a 28.1% rate of role yet established, largely due to the difficulties of SLNB in positive SLN, and low false-positive and false-negative rates. this region, such as multiple draining lymphatic pathways, high No complications were reported. Conclusion: SLNB for SCC false-positive and -negative rate, difficult dissections and of the limbs has been scarcely reported, but those cases potentially greater operative morbidity. The upper and lower reported do collectively demonstrate a high positive predictive limbs offer a potentially different scenario, with the widespread value for lymph node metastasis and a low false-positive rate, utility of SLNB for melanoma in the extremities being well with poor prognostic variables identified. The efficacy of SLNB established. Despite this, the role of SLNB for SCC of the in this setting requires further investigation. extremities has not been explored. A case that highlights the utility of the technique for SCC of the extremities is described, Cutaneous squamous cell carcinoma (SCC) is the second most and a systematic review of the literature performed in order to common skin cancer, with an incidence of approximately 1% establish the current evidence for its use. in many populations (1). The overall risk of metastatic disease is low, with five-year metastatic rates reported at approximately Materials and Methods 5% (2). Certain subsets of SCC, however, have significantly higher rates of locoregional recurrence and distant metastasis, A literature review was performed, comprising an evaluation of all and factors contributing to higher metastatic potential have reported cases of SLNB for SCC of the extremities and assessment of the current evidence for the technique. This was achieved through an been identified by Rowe et al. (3). These subsets can have electronic and manual search using the search strings “sentinel lymph metastatic rates far exceeding the norm, with the metastatic rate node”, “sentinel lymph node biopsy”, “lymph node mapping”, “lymph node biopsy”, combined with “SCC”, “squamous cell carcinoma”, “limb” and/or “extremity”. The inclusion criteria comprised any publication directly studying or commenting on any cases of SLNB Correspondence to: Dr. Warren Rozen, MBBS BMedSc for SCC of the extremities. Only English language articles were PGDipSurgAnat, Ph.D., Department of Plastic and Reconstructive specifically sought. There were no exclusions, with the electronic Surgery, Geelong Hospital, Bellerine St, Victoria, Australia, 3220. search including Pubmed, Pubmed Central, Cochrane Database of Tel: +613 52267111, e-mail: [email protected] Systematic Reviews, Cochrane Central Register of Controlled Trials, Cochrane Methodology Register, Ovid-MEDLINE® In-Process, and Key Words: Skin cancer, non-melanoma, lymph node, metastasis, the secondary references found via bibliographic linkage were also literature review, sentinel lymph node biopsy. retrieved. 0250-7005/2011 $2.00+.40 1443 ANTICANCER RESEARCH 31: 1443-1446 (2011) Case Report A 74-year-old female presented with a large, neglected tumor of the left leg. The lesion involved much of her posterior and lateral leg, between the ankle joint and several centimeters below the knee joint (see Figure 1). It was deeply ulcerative, with clear involvement of the deep muscular compartments. There were no palpable inguinal lymph nodes and no suggestion of distant disease on examination. Mapping punch biopsies of the tumor demonstrated a well-differentiated invasive SCC. Staging of the lesion was performed through locoregional magnetic resonance imaging (MRI) and computed tomographic (CT) staging of her chest, abdomen, pelvis and inguinal nodes. The locoregional MRI showed extensive musculoskeletal involvement, including all of the posterior compartment and peroneal musculature, from the achilles tendon to several centimeters below the popliteal fossa. CT staging showed no metastatic disease in the chest, abdomen or pelvic cavities and no suggestion of inguinal lymphadenopathy. Given the extensive local invasion and poor prognostic factors (size and depth of the tumor), it was felt that limb salvage was not possible, and that inguinal nodal disease was likely and warranted exploration. After multidisciplinary discussion and extensive discussion with the patient and family members, below-knee amputation and left inguinal SLNB were performed. Utilizing patent blue dye for sentinel lymph node mapping, a single blue sentinel node was identified, and the operation concluded uneventfully. Histopathological examination of specimens demonstrated a 160 mm SCC with extensive muscular invasion and cortical invasion of the fibula, but without lymphovascular or perineural Figure 1. Locally advanced squamous cell carcinoma (SCC) of the left infiltration. The tumor was widely completely excised. The leg, demonstrating a 160 mm tumor invading all of the posterior single sentinel node did not reveal any SCC. The patient compartment and peroneal musculature and into the fibula. recovered well with no operative complications. At six-month follow-up, the patient showed no signs of local recurrence or distant metastasis. (minimum four months’ follow-up), and of these, two showed Literature Review subsequent nodal recurrence and three showed systemic metastatic disease. Despite the incomplete data set, the false- The first report of SLNB for SCC of the extremities comprised positive rate of SLNB rate appears to be low, with positive a report by Stadelmann et al. in 1997 of SLNB for SCC of the cases demonstrating poor prognosis in most cases, and no clear upper extremity (4). Although many subsequent studies evidence of any false-positives suggested in the literature. Two attempted to assess the value of SLNB in high-risk SCC cases false-negative cases were demonstrated in the series (6.3%). of the extremities, these were all case reports or small case Although insufficient cases have been reported to reveal any series. There have been no prospective clinical trials performed valid statistics, the data suggests that a substantial proportion of to investigate the role of SLNB in this setting. patients with clinically negative nodal basins will indeed have After excluding all cases that did not describe findings of nodal disease warranting management, and similarly that in SLNB of the extremities, thirteen English-language many high-risk, poor-prognosis SCCs, nodal clearance can be publications were identified and included in the results, avoided with a negative SLNB. All the reports favored SLNB comprising cases between 1997 and 2007 (see Table I) (1, 4- as a safe procedure, and while potential risks offered included 15). Within these 13 reports, there were 32 peripheral SCC allergic reaction to patent blue dye, infection, hematoma, cases reported. From these cases, SLNB was positive in nine lymphedema and damage to nerves and other structures, no cases (28.1%), with five providing adequate follow-up data complications were reported in the included literature. 1444 Lin et al: SLNB for SCC of the Extremities Table I. Features of each of the identified cases of sentinel lymph node biopsy (SLNB) of the limbs reported in the literature. Study Tumor characteristics SLNB features Outcomes Location Risk Differentiation Depth Level of Number Number Local Follow- factors invasion of of recurrence; up SLNs positive nodal (months) identified SLNs metastasis; distant metastasis Renzi et al. (1) LL N/A Poor >4 mm Bone N/A 1 Nodal 4 Stadelmann et al. (4) UL Size=4 cm, N/A N/A Bone N/A 1 Local 14 bone involvement Ardabili et al. (5) LL N/A Well- N/A Dermis N/A 0 (false- Local 5 negative) Eastman et al. (6) UL Marjolin ulcer N/A 1 N/A UL N/A 1 N/A UL N/A 0 N/A LL N/A 1 N/A UL N/A 1 N/A LL N/A 0 N/A Hatta et al. (7) LL N/A N/A N/A N/A N/A 0 N/A N/A LL N/A N/A N/A N/A N/A 0 N/A N/A LL N/A N/A N/A N/A N/A 0 N/A N/A LL N/A N/A N/A N/A N/A 0 N/A N/A Michl et al.
Recommended publications
  • Bilateral Lower Extremity Hyperkeratotic Plaques: a Case Report of Ichthyosis Vulgaris
    Faculty & Staff Scholarship 2015 Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris Hayley Leight Zachary Zinn Omid Jalali Follow this and additional works at: https://researchrepository.wvu.edu/faculty_publications Clinical, Cosmetic and Investigational Dermatology Dovepress open access to scientific and medical research Open Access Full Text Article CASE REPORT Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris Hayley Leight Abstract: Here, we report a case of a middle-aged woman presenting with severe, long-standing, Zachary Zinn hyperkeratotic plaques of the lower extremities unrelieved by over-the-counter medications. Omid Jalali Initial history and clinical findings were suggestive of an inherited ichthyosis. Ichthyoses are genetic disorders characterized by dry scaly skin and altered skin-barrier function. A diagnosis Department of Dermatology, West Virginia University, of ichthyosis vulgaris was confirmed by histopathology. Etiology, prevalence, and treatment Morgantown, WV, USA options are discussed. Keywords: filaggrin gene, FLG, profilaggrin, keratohyalin granules, hyperkeratosis Introduction For personal use only. Inherited ichthyoses are a diverse group of genetic disorders characterized by dry, scaly skin; hyperkeratosis; and altered skin-barrier function. While these disorders of cutaneous keratinization are multifaceted and varying in etiology, disruption in the stratum corneum with generalized scaling is common to all.1–4 Although not entirely known
    [Show full text]
  • Skin Brief Articles
    SKIN BRIEF ARTICLES Nab-paclitaxel/gemcitabine Induced Acquired Ichthyosis Adriana Lopez BAa, Joel Shugar MDb, and Mark Lebwohl MDc aColumbia University Vagelos College of Physicians and Surgeons, New York, NY bIcahn School of Medicine at Mount Sinai, Department of Otolaryngology, New York, NY cIcahn School of Medicine at Mount Sinai, Department of Dermatology, New York, NY ABSTRACT The ichthyoses are a diverse group of cutaneous disorders characterized by abnormalities in cornification. The majority of ichthyoses are inherited with childhood presentation and new onset ichthyosis in adulthood warrants further medical evaluation. Though most well recognized for its association with Hodgkin’s disease, acquired ichthyosis (AI) has been linked to a number of inflammatory, autoimmune, and endocrine processes. However, drug- induced AI is exceedingly rare and remains a poorly understood entity. Here we report a case of a male patient who developed AI while receiving nab-paclitaxel plus gemcitabine for treatment of pancreatic adenocarcinoma. months prior, the patient was first seen for INTRODUCTION recurrent, self-healing, pruritic erythematous Acquired ichythyosis (AI) is an uncommon papules. Punch biopsy was performed which non-inherited cutaneous disorder of showed an atypical cellular infiltrate of abnormal keratinization that is most scattered large CD30+ cells with clonal T-cell frequently associated with underlying receptor-β gene rearrangement. Though the malignancy. Drug induced AI is uncommon clinicopathologic diagnosis was most and has been rarely linked to consistent with lymphomatoid papulosis chemotherapeutic agents. Herein, we report (LyP), imaging was pursued to exclude the case of a man with pancreatic extracutaneous lymphoproliferative disease. adenocarcinoma who developed an CT scan incidentally detected a mass in the ichthyosiform eruption upon starting body of the pancreas and biopsy was chemotherapy with nab-paclitaxel plus concordant with pancreatic adenocarcinoma.
    [Show full text]
  • Lymphatic Complaints in the Dermatology Clinic: an Osteopathic
    Volume 35 JAOCDJournal Of The American Osteopathic College Of Dermatology Lymphatic Complaints in the Dermatology Clinic: An Osteopathic Approach to Management A five-minute treatment module makes lymphatic OMT a practical option in busy practices. Also in this issue: A Case of Acquired Port-Wine Stain (Fegeler Syndrome) Non-Pharmacologic Interventions in the Prevention of Pediatric Atopic Dermatitis: What the Evidence Says Inflammatory Linear Verrucous Epidermal Nevus Worsening in Pregnancy last modified on June 9, 2016 10:54 AM JOURNAL OF THE AMERICAN OSTEOPATHIC COLLEGE OF DERMATOLOGY Page 1 JOURNAL OF THE AMERICAN OSTEOPATHIC COLLEGE OF DERMATOLOGY 2015-2016 AOCD OFFICERS PRESIDENT Alpesh Desai, DO, FAOCD PRESIDENT-ELECT Karthik Krishnamurthy, DO, FAOCD FIRST VICE-PRESIDENT Daniel Ladd, DO, FAOCD SECOND VICE-PRESIDENT John P. Minni, DO, FAOCD Editor-in-Chief THIRD VICE-PRESIDENT Reagan Anderson, DO, FAOCD Karthik Krishnamurthy, DO SECRETARY-TREASURER Steven Grekin, DO, FAOCD Assistant Editor TRUSTEES Julia Layton, MFA Danica Alexander, DO, FAOCD (2015-2018) Michael Whitworth, DO, FAOCD (2013-2016) Tracy Favreau, DO, FAOCD (2013-2016) David Cleaver, DO, FAOCD (2014-2017) Amy Spizuoco, DO, FAOCD (2014-2017) Peter Saitta, DO, FAOCD (2015-2018) Immediate Past-President Rick Lin, DO, FAOCD EEC Representatives James Bernard, DO, FAOCD Michael Scott, DO, FAOCD Finance Committee Representative Donald Tillman, DO, FAOCD AOBD Representative Michael J. Scott, DO, FAOCD Executive Director Marsha A. Wise, BS AOCD • 2902 N. Baltimore St. • Kirksville, MO 63501 800-449-2623 • FAX: 660-627-2623 • www.aocd.org COPYRIGHT AND PERMISSION: Written permission must be obtained from the Journal of the American Osteopathic College of Dermatology for copying or reprinting text of more than half a page, tables or figures.
    [Show full text]
  • Cytoplasmic Plaque Formation in Hemidesmosome Development Is Dependent on Soxf Transcription Factor Function
    Cytoplasmic Plaque Formation in Hemidesmosome Development Is Dependent on SoxF Transcription Factor Function Shelly Oommen1, Mathias Francois2, Maiko Kawasaki1, Melanie Murrell2, Katsushige Kawasaki1, Thantrira Porntaveetus1, Sarah Ghafoor1, Neville J. Young2, Yoshimasa Okamatsu3, John McGrath4, Peter Koopman2, Paul T. Sharpe1, Atsushi Ohazama1,3* 1 Craniofacial Development and Stem Cell Biology, and Biomedical Research Centre, Dental Institute, King’s College London, London, United Kingdom, 2 Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia, 3 Department of Periodontology, Showa University Dental School, Tokyo, Japan, 4 Genetic Skin Disease Group, St John’s Institute of Dermatology, Division of Skin Sciences, King’s College London, London, United Kingdom Abstract Hemidesmosomes are composed of intricate networks of proteins, that are an essential attachment apparatus for the integrity of epithelial tissue. Disruption leads to blistering diseases such as epidermolysis bullosa. Members of the Sox gene family show dynamic and diverse expression patterns during development and mutation analyses in humans and mice provide evidence that they play a remarkable variety of roles in development and human disease. Previous studies have established that the mouse mutant ragged-opossum (Raop) expresses a dominant-negative form of the SOX18 transcription factor that interferes with the function of wild type SOX18 and of the related SOXF-subgroup proteins SOX7 and 217. Here we show that skin and oral mucosa in homozygous Raop mice display extensive detachment of epithelium from the underlying mesenchymal tissue, caused by tearing of epithelial cells just above the plasma membrane due to hemidesmosome disruption. In addition, several hemidesmosome proteins expression were found to be dysregulated in the Raop mice.
    [Show full text]
  • April 2011 Preventiongenetics Newsletter
    News from PreventionGenetics IN THIS ISSUE Volume 3, Number 1 New Tests Welcome to the April 2011 PreventionGenetics Newsletter. In New Hires this issue, we present new DNA sequencing tests for 40 President's Corner disorders. In addition, we introduce two new geneticists to our staff. In the President's Corner, Dr. Jim Weber discusses recent progress at PreventionGenetics. QUICK LINKS Our Website Requisition Form New Tests at PreventionGenetics Please follow the gene links for the corresponding test description. · · · · · · · · · · · · · · · · · · · · · · · · · · · · · · · · · · · · · · Achondrogenesis (SLC26A2) Achondrogenesis Type II-Hypochondrogenesis (COL2A1) Amyotrophic Lateral Sclerosis and Primary Open-Angle Glaucoma (OPTN) Atelosteogenesis (SLC26A2) Camurati-Engelmann Disease (TGFB1) Cartilage-hair Hypoplasia and Related Disorders (RMRP) Chediak-Higashi Syndrome (LYST) Chondrodysplasia Punctata, X-Linked Dominant (EBP) Cleidocranial Dysplasia (RUNX2) Cranioectodermal Dysplasia 1 (IFT122) Diastrophic Dysplasia (SLC26A2) Dilated Cardiomyopathy and Limb-Girdle Muscular Dystrophy Type 2F (SGCD) Dentinogenesis Imperfecta (DSPP) Ellis-van Creveld Syndrome (EVC, EVC2) Emery-Dreifuss Muscular Dystrophy-1 (EMD) Fanconi Anemia (FANCL) Hennekam Lymphangiectasia-Lymphedema (CCBE1) Hereditary Breast Cancer (CHEK2) Hermansky Pudlak Syndrome (HPS1, HPS2/AP3B1, HPS3, HPS4, HPS5, HPS6, HPS7/DTNBP1, HPS8/BLOC1S3) Hirschsprung Disease (RET) Holt-Oram Syndrome (TBX5) Kneist Dysplasia (COL2A1) Lynch Syndrome (PMS2) Menkes Disease and X-Hereditary
    [Show full text]
  • Hand and Arm Guidelines After Your Axillary Lymph Node Dissection
    PATIENT & CAREGIVER EDUCATION Hand and Arm Guidelines After Your Axillary Lymph Node Dissection This information describes how to prevent infection and reduce swelling in your hand and arm after your axillary lymph node dissection surgery. Following these guidelines may help prevent lymphedema. About Your Lymphatic System Figure 1. Normal lymph drainage Figure 1. Normal lymph drainage Your lymphatic system has 2 jobs: It helps fight infection. It helps drain fluid from areas of your body. Your lymphatic system is made up of lymph nodes, lymphatic vessels, and lymphatic fluid (see Figure 1). Lymph nodes are small bean-shaped glands located along your lymphatic vessels. Your lymph nodes filter your lymphatic fluid, taking out bacteria, viruses, cancer cells, and other waste products. Lymphatic vessels are tiny tubes, like your blood vessels, that carry fluid to and from your lymph nodes. Lymphatic fluid is the clear fluid that travels through your lymphatic system. It carries cells that help fight infections and other diseases. Axillary lymph nodes are a group of lymph nodes in your armpit (axilla) that drain the lymph fluid from your breast and arm. Everyone has a different number of axillary lymph nodes. An axillary lymph node dissection is a surgery to remove a group of axillary lymph nodes. Hand and Arm Guidelines After Your Axillary Lymph Node Dissection 1/5 About Lymphedema Sometimes, removing lymph nodes can make it hard for your lymphatic system to drain properly. If this happens, lymphatic fluid can build up in the area where the lymph nodes were removed. This extra fluid causes swelling called lymphedema.
    [Show full text]
  • Lymphedema Fact Sheet
    Lymphedema Fact Sheet What is lymphedema? Lymphedema is the accumulation of lymphatic fluid that can cause swelling in the arm and/or hand. Lymphatic fluid is normally filtered through the lymph nodes. Removal of lymph nodes requires lymph fluids from the arm to be rerouted and filtered through remaining axillary lymph nodes. Lymphedema occurs in a small number of patients, and symptoms can range from hand swelling alone to total arm swelling. Should you notice any swelling, please contact your surgeon’s office who will instruct you in appropriate follow up care. Intervention includes physical or occupational therapy, manual lymphatic drainage, compression bandaging and garments. New research suggests gradual, progressive strengthening, when cleared by your physician, can actually minimize the risk of lymphedema by dilating, or widening, remaining lymphatic channels around the shoulder and arm. Who is at risk for lymphedema? With a sentinel node biopsy, the lifetime risk of lymphedema is very small and may occur in up to 5% of patients. With an axillary dissection or radiation to the axilla, the lifetime risk is up to 20%. The vast majority of cases of lymphedema related to breast surgery or radiation occur in the first year after treatment. Being overweight can increase your risk. What are the early signs of lymphedema? The early sign of lymphedema is swelling of the arm or hand. Sometimes the arm will feel heavy. Sometimes the first sign is that your sleeve, watch or jewelry feels tighter than usual. Can I prevent lymphedema? While there is no medical evidence that lymphedema can be prevented, below are some recommendations for possible risk reduction: • Maintaining a healthy weight has been shown to reduce risk of lymphedema.
    [Show full text]
  • 171 Lymphology 28 (1995)
    171 Lymphology 28 (1995) 171-173 Lymphedema is largely a cutaneous with prevention, they have to look at quality, problem and the gross deformity that causes and consider the poor, women versus men, such severe disfigurement is an example of vulnerability or susceptibility to diseases like skin failure. The World Health Organization infections and cancer, and they also have to concept of "Health for All" includes physical look at good practice. The latter includes the and mental well-being, which means content­ efficacy of treatment, safety issues, the satis­ ment and confidence. In the Proceedings of faction of patients and the cost of therapy. the 10th International Congress of Lymphol­ One has to examine those treatments which Oogy held in Adelaide in 1985, I was are locally available at low cost, many of responsible for coordinating the section of the which may be traditional health systems. Consensus Document devoted to "Goals of In the content of World Health Organi­ Treatment and Criteria of Success or Failure" zation documents, one has to consider (1). The concept of the Greek ideal of beauty "Disability, Impairment and Handicap." In "The Confident Nude" as someone whose this context, one is talking about loss of condition was so improved that no external function. We all know about heart failure, supports were needed and who was confident respiratory failure, liver failure and failure that the condition would not return was of other organs, but in general, noone speaks debated. More recently, as a member of the of skin failure. Most textbooks consider the International Committee on Dermatology, I functions of the skin as protection, con­ have been concerned with the problem that tainment of body fluids, thermoregulation the documents from the World Health and sensing the environment.
    [Show full text]
  • Table I. Genodermatoses with Known Gene Defects 92 Pulkkinen
    92 Pulkkinen, Ringpfeil, and Uitto JAM ACAD DERMATOL JULY 2002 Table I. Genodermatoses with known gene defects Reference Disease Mutated gene* Affected protein/function No.† Epidermal fragility disorders DEB COL7A1 Type VII collagen 6 Junctional EB LAMA3, LAMB3, ␣3, ␤3, and ␥2 chains of laminin 5, 6 LAMC2, COL17A1 type XVII collagen EB with pyloric atresia ITGA6, ITGB4 ␣6␤4 Integrin 6 EB with muscular dystrophy PLEC1 Plectin 6 EB simplex KRT5, KRT14 Keratins 5 and 14 46 Ectodermal dysplasia with skin fragility PKP1 Plakophilin 1 47 Hailey-Hailey disease ATP2C1 ATP-dependent calcium transporter 13 Keratinization disorders Epidermolytic hyperkeratosis KRT1, KRT10 Keratins 1 and 10 46 Ichthyosis hystrix KRT1 Keratin 1 48 Epidermolytic PPK KRT9 Keratin 9 46 Nonepidermolytic PPK KRT1, KRT16 Keratins 1 and 16 46 Ichthyosis bullosa of Siemens KRT2e Keratin 2e 46 Pachyonychia congenita, types 1 and 2 KRT6a, KRT6b, KRT16, Keratins 6a, 6b, 16, and 17 46 KRT17 White sponge naevus KRT4, KRT13 Keratins 4 and 13 46 X-linked recessive ichthyosis STS Steroid sulfatase 49 Lamellar ichthyosis TGM1 Transglutaminase 1 50 Mutilating keratoderma with ichthyosis LOR Loricrin 10 Vohwinkel’s syndrome GJB2 Connexin 26 12 PPK with deafness GJB2 Connexin 26 12 Erythrokeratodermia variabilis GJB3, GJB4 Connexins 31 and 30.3 12 Darier disease ATP2A2 ATP-dependent calcium 14 transporter Striate PPK DSP, DSG1 Desmoplakin, desmoglein 1 51, 52 Conradi-Hu¨nermann-Happle syndrome EBP Delta 8-delta 7 sterol isomerase 53 (emopamil binding protein) Mal de Meleda ARS SLURP-1
    [Show full text]
  • Axillary Lymph Nodes and Breast Cancer
    AXILLARY LYMPH NODES Lymphatic system and axillary nodes The lymphatic system runs through the body. It carries lymph from tissues and organs to lymph nodes. Lymph nodes are small clumps of immune cells that act as filters for the lymphatic system. They also store white blood cells that help fight illness. The lymph nodes in the underarm are called axillary lymph nodes. If breast cancer spreads, this is the first place it’s likely to go. During breast surgery, some axillary nodes may be removed to see if they contain cancer. This helps determine breast cancer stage and guide treatment. Lymph node status is related to tumor size. The larger the tumor, the more likely it is the breast cancer has spread to the lymph nodes (lymph node-positive). Sentinel node biopsy To see if cancer has spread to the axillary lymph nodes, The lymphatic system runs through the body. most people have a sentinel node biopsy. Before or during the procedure, a radioactive substance (called a tracer) and/ or a blue dye is injected into the breast. The first lymph supraclavicular nodes nodes to absorb the tracer or dye are called the sentinel nodes. These are also the first lymph nodes where breast cancer is likely to spread. internal mammary The surgeon removes the sentinel nodes and sends them nodes to the lab. When the surgeon removes the sentinel nodes, it doesn’t mean there’s cancer in the nodes. It means a pathologist needs to check the nodes for cancer. If the nodes contain cancer, more lymph nodes may be removed.
    [Show full text]
  • Genetic Basis for Congenital Heart Disease: Revisited a Scientific Statement from the American Heart Association Endorsed by the American Academy of Pediatrics
    Circulation AHA SCIENTIFIC STATEMENT Genetic Basis for Congenital Heart Disease: Revisited A Scientific Statement From the American Heart Association Endorsed by the American Academy of Pediatrics ABSTRACT: This review provides an updated summary of the state of Mary Ella Pierpont, MD, our knowledge of the genetic contributions to the pathogenesis of PhD, Chair congenital heart disease. Since 2007, when the initial American Heart Martina Brueckner, MD Association scientific statement on the genetic basis of congenital heart Wendy K. Chung, MD, disease was published, new genomic techniques have become widely PhD available that have dramatically changed our understanding of the Vidu Garg, MD, FAHA causes of congenital heart disease and, clinically, have allowed more Ronald V. Lacro, MD accurate definition of the pathogeneses of congenital heart disease in Amy L. McGuire, JD, PhD patients of all ages and even prenatally. Information is presented on Seema Mital, MD, FAHA James R. Priest, MD new molecular testing techniques and their application to congenital William T. Pu, MD heart disease, both isolated and associated with other congenital Amy Roberts, MD Downloaded from http://ahajournals.org by on January 7, 2019 anomalies or syndromes. Recent advances in the understanding of copy Stephanie M. Ware, MD, number variants, syndromes, RASopathies, and heterotaxy/ciliopathies PhD are provided. Insights into new research with congenital heart disease Bruce D. Gelb, MD, Vice models, including genetically manipulated animals such as mice, chicks, Chair* and zebrafish, as well as human induced pluripotent stem cell–based Mark W. Russell, MD, Vice approaches are provided to allow an understanding of how future Chair* research breakthroughs for congenital heart disease are likely to happen.
    [Show full text]
  • EUROCAT Syndrome Guide
    JRC - Central Registry european surveillance of congenital anomalies EUROCAT Syndrome Guide Definition and Coding of Syndromes Version July 2017 Revised in 2016 by Ingeborg Barisic, approved by the Coding & Classification Committee in 2017: Ester Garne, Diana Wellesley, David Tucker, Jorieke Bergman and Ingeborg Barisic Revised 2008 by Ingeborg Barisic, Helen Dolk and Ester Garne and discussed and approved by the Coding & Classification Committee 2008: Elisa Calzolari, Diana Wellesley, David Tucker, Ingeborg Barisic, Ester Garne The list of syndromes contained in the previous EUROCAT “Guide to the Coding of Eponyms and Syndromes” (Josephine Weatherall, 1979) was revised by Ingeborg Barisic, Helen Dolk, Ester Garne, Claude Stoll and Diana Wellesley at a meeting in London in November 2003. Approved by the members EUROCAT Coding & Classification Committee 2004: Ingeborg Barisic, Elisa Calzolari, Ester Garne, Annukka Ritvanen, Claude Stoll, Diana Wellesley 1 TABLE OF CONTENTS Introduction and Definitions 6 Coding Notes and Explanation of Guide 10 List of conditions to be coded in the syndrome field 13 List of conditions which should not be coded as syndromes 14 Syndromes – monogenic or unknown etiology Aarskog syndrome 18 Acrocephalopolysyndactyly (all types) 19 Alagille syndrome 20 Alport syndrome 21 Angelman syndrome 22 Aniridia-Wilms tumor syndrome, WAGR 23 Apert syndrome 24 Bardet-Biedl syndrome 25 Beckwith-Wiedemann syndrome (EMG syndrome) 26 Blepharophimosis-ptosis syndrome 28 Branchiootorenal syndrome (Melnick-Fraser syndrome) 29 CHARGE
    [Show full text]