In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. Once the DC-related pathogenic variant(s) have been identified in an affected family member, prenatal and preimplantation genetic testing are possible. To date, ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, and WRAP53 are the genes in which pathogenic variants are known to cause DC and result in very short telomeres. GeneReviews. Footnote: Dyskeratosis congenita clinical findings. Lamm et al. While it has been identified in patients from multiple ethnicities, a relative excess in patients from the Ashkenazi Jewish population has been observed due to the presence of a founder mutation. The classic triad may not be present in all individuals. Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up. These syndromes vary in severity and can affect children and adults. Het is een vorm van ectodermale dysplasie.. Kenmerken die vaak voorkomen zijn: de nagels groeien langzaam en hebben een andere vorm; er zijn afwijkingen van het pigment van de huid van vooral de nek en de borst The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. GeneReviews is a registered trademark of the University of Washington, Seattle. These resources can help families navigate various aspects of living with a rare disease. 2009;10:45–61. A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Dyskeratosis congenita. Search For A Disorder. For most diseases, symptoms will vary from person to person. J Blood Med. To date six genes when mutated have been shown to be responsible for dyskeratosis congenita. Because it is possible that bone marrow failure or a history of cancer may precede other clinical findings, it is important to consider DC a diagnosis, especially in a patient with a … The prevalence of DC is estimated to be 1 in 1,000,000. Dyskeratosis Congenita Outreach, Inc. The in-depth resources contain medical and scientific language that may be hard to understand. Dys är latin för onormal, keratos står för hornbildning i huden och congenita betyder medfödd. Differential diagnosis includes palmoplantar keratoderma-spastic paralysis syndrome, nail-patella syndrome, autosomal dominant nail dysplasia, poikiloderma with netropenia, Fanconi anemia, Diamond-Blackfan anemia, Shwachman-Diamond Anemia, idiopathic aplastic anemia, idiopathic pulmonary fibrosis, Coats plus syndrome. If you have questions about getting a diagnosis, you should contact a healthcare professional. Mutations in this gene cause X-linked dyskeratosis congenita. DKC is characterized by short telomeres. Dyskeratosis Congenita (DKC) is a disorder of chromosome telomere biology. Dyskeratosis congenita är en ärftlig sjukdom. Copyright © 1993-2020, University of Washington, Seattle. The mucocutaneous triad of nail dysplasia, abnormal skin pigmentation and oral leukoplakia is diagnostic, but is not always present; DC can also be diagnosed by the presence of very short leukocyte telomeres. The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, but these components do not always occur. (D and E) Hyperkeratosis and hyperpigmentation of the palms and soles. GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Treatment of pulmonary fibrosis is primarily supportive, although lung transplantation may be considered. Hematology Am Soc Hematol Educ Program. Accessibility Haematologica. (1971) described a black family with a form of dyskeratosis congenita inherited as an autosomal dominant trait. all the symptoms listed. 2011;480-6; Fernández García MS, Teruya-Feldstein J. Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Careers. Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, Dyskeratosis congenita autosomal dominant, Dyskeratosis congenita autosomal recessive, Human Phenotype Ontology 2008;105:13051–6. The Invitae Dyskeratosis Congenita Panel analyzes genes associated with dyskeratosis congenita (DC). Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Kenmerken die vaak voorkomen zijn: de nagels groeien langzaam en hebben een andere vorm A founder variant c. Prenatal Testing and Preimplantation Genetic Diagnosis Once the DC-related pathogenic variant s have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis for DC are possible. Introduction: We present a patient with dyskeratosis congenita presenting for resection of a tongue base tumour. Each time a cell divides, its telomeres get a little shorter. Test description. Of note, cancer therapy may pose an increased risk for prolonged cytopenias as well as pulmonary and hepatic toxicity. Fludarabine, cyclophosphamide, and antithymocyte globulin for a patient with dyskeratosis congenita and severe bone marrow failure. While it has been identified in patients from multiple ethnicities, a relative excess in patients from the Ashkenazi Jewish population has been observed due to the presence of a founder mutation. Resources Dyskeratosis Congenita Outreach, Inc. Dyskeratosis Congenita Outreach, Inc. is a community whose mission is to provide support services and information to families affected by dyskeratosis congenita and teleomere biology disorders, to educate medical providers, and to encourage the medical community's research in finding causes and treatments. Dyskeratosis congenita (DC) is a bone marrow failure (BMF) syndrome characterized by genetic mutations in the telomere complex. People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. doi: 10.1016/j.pediatrneurol.2015.12.005. 2004;36(5):447. European Society for Immunodeficiencies (ESID) Registry, United States Immunodeficiency Network (USIDENT) Registry, The Pediatric Myelodysplastic Syndrome (MDS) and Bone Marrow Failure (BMF) Registry, Inherited Bone Marrow Failure Syndrome Study (IBMFS). It is often, but not always, characterized by a classical triad of oral mucosa leukoplakia, nail dystrophy and lacy, reticular pigmentation of the upper chest and neck. Dyskeratosis congenita (DC) is a bone marrow failure (BMF) syndrome characterized by genetic mutations in the telomere complex. Evidence exists for telomerase dysfunction, ribosome deficiency, and protein synthesis dysfunction in this disorder. Agents/circumstances to avoid: Blood donation by family members if HCT is being considered; non-leukodepleted and non-irradiated blood products; the combination of androgens and G-CSF in treatment of BMF (has been associated with splenic rupture); toxic agents implicated in tumorigenesis (e.g., smoking). From GeneReviews Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. Hematology Am Soc Hematol Educ Program. In rare cases, a patient’s telomere syndrome may … Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Other hereditary syndromes with an increased risk of leukemia include Li-Fraumeni syndrome ( TP53 ), ataxia telangiectasia ( ATM ), Bloom syndrome ( BLM ), neurofibromatosis type 1 ( NF1 ) and less frequently Noonan syndrome ( PTPN11, CBL ). Ocular Features: Little is known about the ocular signs in this rare disorder. Dyskeratosis Congenita (RTEL1-Related) (RTEL1) Dyskeratosis congenita (RTEL1-related) is a rare autosomal recessive disorder caused by pathogenic variants in the gene RTEL1. Use the HPO ID to access more in-depth information about a symptom. (HPO) . 2014;5:157-67 Do you know of an organization? Dyskeratosis congenita is caused by a genetic, inheritable, defect causing defective maintenance of telomeres, the genetic material at the end of our chromosomes. Related diseases are conditions that have similar signs and symptoms. Vulliamy T et al. Mutations in DKC1 are responsible for the X-linked form and for about 20-25% of sporadic cases. Dyskeratosis congenita occurs when DNA changes known as pathogenic … Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal. Is ideal for patients with a personal history of a syndrome that confers an increased risk of leukemia or patients with a family history of a syndrome that confers an increased risk of leukemia. The National Library of Medicine (NLM), on the NIH campus in Bethesda, Maryland, is the world's largest biomedical library and the developer of electronic information services that delivers data to millions of scientists, health professionals and members of the public around the globe, every day. Blueprint Genetics' Hermansky-Pudlak Syndrome Panel Is ideal for patients with a clinical suspicion of Hermansky-Pudlak Syndrome. Dyskeratosis congenita is een erfelijke aandoening van verschillende delen van het lichaam. Click on the link to view a sample search on this topic. GeneReviews 2016 May 16; Synthesized Recommendation Grading System for DynaMed Content. Pediatr Neurol. They can direct you to research, resources, and services. (1971) described a black family with a form of dyskeratosis congenita inherited as an autosomal dominant trait. It is commonly associated with bone marrow failure, increased predisposition for malignancies and a … Inclusion on this list is not an endorsement by GARD. Surveillance: For BMF: complete blood count (CBC) annually if normal and more often if abnormal; consider annual bone marrow aspirate and biopsy. Annu Rev Genomics Hum Genet. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. Dyskeratosis Congenita and Telomere Biology Disorders: Diagnosis and Management Guidelines. -, Armanios M. Syndromes of telomere shortening. Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Giri N, Alter BP, Nellan A, Gamper C, Hartman KR, Savage SA. 2009;113:6549–57. The disease initially mainly affects the skin, but a major consequence is progressive bon Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. Epub 2015 Dec 19. Fogarty PF, Yamaguchi H, Wiestner A, Baerlocher GM, Sloand E, Zeng WS, Read EJ, Lansdorp PM, Young NS. Pathogenic variants in one of these 11 genes have been identified in approximately 70% of individuals who meet clinical diagnostic criteria for DC. Questions sent to GARD may be posted here if the information could be helpful to others. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311, Low number of red blood cells or hemoglobin, Failure of development of between one and six teeth, Death of bone due to decreased blood supply, Abnormal deposits of calcium in the brain, Scar tissue replaces healthy tissue in the liver, Conditions with similar signs and symptoms from Orphanet. Dyskeratosis congenita. GARD Answers GARD Answers Listen. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Dyskeratosis Congenita. Autosomal Recessive Dyskeratosis Congenita 5. (B) Leukoplakia. Genetic counseling regarding risk to family members depends on accurate diagnosis, determination of the mode of inheritance in each family, and results of molecular genetic testing. Nat Genet. Dyskeratosis Congenita and Telomere Disorders Panel Disorder: Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome caused by defects in the telomere maintenance pathway. There is considerable variability in the clinical features. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. People with the same disease may not have Read more about genetic testing available for diagnostics of hereditary spherocytosis. n a a 1 Anaesthesia recommendations for Dyskeratosis congenita Disease name: Dyskeratosis congenita ICD 10: Q82.8 Synonyms: Zinsser-Engman-Cole syndrome, Hoyeraal-Hreidarsson syndrome, Revesz syndrome, DC, DKC Disease summary: Dyskeratosis congenita (DC) is a rare disease of abnormal telomere biology, leading to haematopoetic failure among other heterogeneous multisystem mani- The DKC1 gene provides instructions for making a protein called dyskerin. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. (A) Abnormal skin pigmentation. Het is een vorm van ectodermale dysplasie. Dokal I. Dyskeratosis congenita. With ageing, cells divide many times. However, mutations in these genes only account for about one half of patients with classical clinical manifestations of dyskeratosis congenita, suggesting that there are additional genes that when mutated cause dyskeratosis congenita. For pulmonary fibrosis: annual pulmonary function tests starting either at diagnosis or when the individual can perform the test (often around age eight years). The mode of inheritance of DC varies by gene: Autosomal dominant or autosomal recessive: ACD, RTEL1, and TERT, Autosomal recessive: CTC1, NHP2, NOP10, PARN, and WRAP53. Routine dental screening every six months and good oral hygiene are recommended. CLINICAL CHARACTERISTICS: Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a … Sjukdomen medför bland annat för tidigt åldrande, onormal pigmentering av huden, förändringar av naglarna, fläckar på slemhinnan i munnen och sviktande benmärgsfunktion. Savage S. “Dyskeratosis Congenita”, GeneReviews®, (2009), University of Washington: Seattle. Dyskeratosis congenita är en ärftlig sjukdom. Making a diagnosis for a genetic or rare disease can often be challenging. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. These considerations may impact peri-operative care, including pre-operative optimization, airway management, and choice … The classic triad may not be present in all individuals. Hematology Am Soc Hematol Educ Program. rare disease research! Dyskeratosis Congenita – GeneReviews® – NCBI Bookshelf. Telomere Syndromes and Dyskeratosis Congenita Telomere syndromes are inherited conditions that can cause bone marrow failure and lung disease. Do you have updated information on this disease? Please note that the table may not include all the possible conditions related to this disease. You can help advance … Epub 2013 Jun 1. Proc Natl Acad Sci U S A. This site needs JavaScript to work properly. Excerpted from the GeneReview: Dyskeratosis Congenita Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. More than 40 mutations in the DKC1 gene have been identified in people with dyskeratosis congenita. is updated regularly. Online Mendelian Inheritance in Man (OMIM). Lancet. Dokal I. Dyskeratosis congenita. Clipboard, Search History, and several other advanced features are temporarily unavailable. The diagnosis and treatment of dyskeratosis congenita: a review. This information comes from a database called the Human Phenotype Ontology [Source 3)] Dyskeratosis congenita causes. Dyskeratosis congenita, autosomal dominant, 4 (DKCA4) MedGen UID: 815132 • Concept ID: C3808802 • Disease or Syndrome. GeneReviews - Dyskeratosis Congenita WebMD - Dyskeratosis Congenita. dyskeratosis congenita, Fanconi anemia). GeneReviews - Dyskeratosis Congenita WebMD - Dyskeratosis Congenita. Treatment of manifestations: Treatment is tailored to the individual. The classic triad may not be present in all individuals. Diagnosis/testing: Dyskeratosis congenita (RTEL1-related) is a rare autosomal recessive disorder caused by pathogenic variants in the gene RTEL1. Male … Telomeres help protect chromosomes from abnormally sticking together or breaking down (degrading). To date, the only curative treatment for the bone marrow failure in DC patients is allogeneic hematopoietic stem cell transplantation. 2015;37:322–6. Clinical characteristics: Questions sent to GARD may be posted here if the information could be helpful to others. Get the latest research information from NIH: https://covid19.nih.gov (link is external). Click on the link to view a sample search on this topic. Clinical Characteristics . 2014;5:157-67 [PubMed: 14630445] You may want to review these resources with a medical professional. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Cancer in dyskeratosis congenita. We remove … Contact a GARD Information Specialist. Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. National Library of Medicine Hematology Am Soc Hematol Educ Program. MDSs and AMLs can occur in the context of syndromic bone marrow failure (eg. Some registries collect contact information while others collect more detailed medical information. Request PDF on ResearchGate | Disqueratosis congénita | Este artículo debe citarse como: Nazar-Díaz-Mirón D, Navarrete-Fran-co G. The diagnosis of dyskeratosis congenita was made only after an evolution of five years. Management: -, Alter BP, Giri N, Savage SA, Rosenberg PS. We want to hear from you. Living with a genetic or rare disease can impact the daily lives of patients and families. 2013 Dec;162(6):353-63. doi: 10.1016/j.trsl.2013.05.003. Privacy, Help Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and oral leukoplakia. Dyskeratosis Congenita (DKC) is a disorder of chromosome telomere biology. Dyskeratosis congenita (DC) is a rare telomere biology disorder, which results in different clinical manifestations, including severe bone marrow failure. GTR; MeSH; C Clinical test, R Research test, O OMIM, G GeneReviews, V ClinVar C R O G V Dyskeratosis congenita. Dyskeratosis congenita is a rare genetic disorder caused by abnormal maintenance of chromosome telomere regions and is associated with multi-organ dysfunction. Patient Registry. Patients with DKC have abnormally short telomeres. Clinical characteristics: Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. These resources provide more information about this condition or associated symptoms. Other findings can include: abnormal pigmentation changes not restricted to the upper chest and neck, eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), and dental abnormalities (caries, periodontal disease, taurodauntism). Search For A Disorder. This disorder is characterized by changes in skin coloring (pigmentation), white patches inside the mouth (oral leukoplakia), and abnormally formed fingernails and toenails (nail dystrophy). Some of the manifestations resemble premature ageing. Dyskeratosis congenita (DC) is an inherited disorder characterized by bone marrow failure, cancer predisposition, and additional somatic abnormalities. Ocular Features: The conjunctiva and eyelids are prominently involved as part of the generalized mucocutaneous disease. Evidence exists for telomerase dysfunction, ribosome deficiency, and protein synthesis dysfunction in this disorder. J Pediatr Hematol Oncol. To date, the only curative treatment for the bone marrow failure in DC patients is allogeneic hematopoietic stem cell transplantation. Dyskeratosis congenita (DC) is a cancer-prone inherited bone marrow failure syndrome caused by aberrant telomere biology. n a a 1 Anaesthesia recommendations for Dyskeratosis congenita Disease name: Dyskeratosis congenita ICD 10: Q82.8 Synonyms: Zinsser-Engman-Cole syndrome, Hoyeraal-Hreidarsson syndrome, Revesz syndrome, DC, DKC Disease summary: Dyskeratosis congenita (DC) is a rare disease of abnormal telomere biology, leading to haematopoetic failure among other heterogeneous multisystem mani- -, Algeri M, Comoli P, Strocchio L, Perotti C, Corbella F, Del Fante C, Baio A, Giorgiani G, Gurrado A, Accornero E, Cugno C, Pession A, Zecca M. Successful T-cell-depleted haploidentical hematopoietic stem cell transplantation in a child with dyskeratosis congenita after a fludarabine-based conditioning regimen. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. This table lists symptoms that people with this disease may have. 2016 Mar;56:62-68.e1. Synonym: DKCA4 OMIM ®: 608833; 615190: Term Hierarchy. -. Questions sent to GARD may be posted here if the information could be helpful to others. COVID-19 is an emerging, rapidly evolving situation. All rights reserved. Dyskeratosis congenita is a disorder that can affect many parts of the body. Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. When telomeres become abnormally short, cells can no longer divide effectively. Sjukdomen medför bland annat för tidigt åldrande, onormal pigmentering av huden, förändringar av naglarna, fläckar på slemhinnan i munnen och sviktande benmärgsfunktion. Dyskeratosis Congenita. Dyskeratosis congenita consists of a heterogeneous (genetic and clinical) group of inherited bone marrow failure and premature aging syndromes with the common feature of shortened telomeres. (HPO). Available online . Please enable it to take advantage of the complete set of features! This section provides resources to help you learn about medical research and ways to get involved. (C) Nail dystrophy. The HPO The diagnosis and treatment of dyskeratosis congenita: a review. 2011. This protein is involved in maintaining structures called telomeres, which are found at the ends of chromosomes. If you do not want your question posted, please let us know. Blood. La dyskératose congénitale (DKC), aussi appelée syndrome de Zinsser-Engman-Cole,, est un trouble congénital rare et progressif qui à certains égards, ressemble à un … Dyskeratosis congenita (DC) is commonly diagnosed clinically with three classic findings of 1) oral leukoplakia, 2) nail dystrophy, and 3) abnormal skin pigmentation. Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. We want to hear from you. 2003; 362:1628鈥 30. Treatment of other cancers is tailored to the type of cancer. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein (MPP1) gene and is transcribed in a telomere to centromere direction. -, Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA. A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Dyskeratosis congenita autosomal recessive. FOIA ↑ Dokal I, Dyskeratosis congenita, Hematology Am Soc Hematol Educ Program, 2011;2011:480–486 ↑ Tummala H, Walne A, Collopy L et al. For cancer risk: monthly self-examination for oral, head, and neck cancer; annual cancer screening by an otolaryngologist and dermatologist; annual gynecologic examination. 2002 Feb 14 [updated 2018 Mar 8]. http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita, https://www.ncbi.nlm.nih.gov/books/NBK22301/, https://pubmed.ncbi.nlm.nih.gov/31570891/. Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, was first described in 1906. Do you have more information about symptoms of this disease? X-linked dyskeratosis congenita The first gene to be identified was DKC1. 2011;480-6; Fernández García MS, Teruya-Feldstein J. The HPO collects information on symptoms that have been described in medical resources. Congenital malformations and deformations of skin appendagesTemplate: Pathogenic variants in telomerase that are associated with DC, IPF, or aplastic anemia typically result in loss or reduced … DC is a clinically and genetically heterogeneous telomere disorder characterized by abnormal skin pigmentation, nail dystrophy, oral leukoplakia and increased risk of progressive bone marrow failure and malignancies. Dyskeratosis congenita is een erfelijke aandoening van verschillende delen van het lichaam. Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Scoggins et al. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and oral leukoplakia. Hematopoietic cell transplantation (HCT) is the only curative treatment for BMF and leukemia but historically has had poor long-term efficacy; if a suitable donor is not available, androgen therapy may be considered for BMF. La dyskératose congénitale (DKC), aussi appelée syndrome de Zinsser-Engman-Cole [1], [2], est un trouble congénital rare et progressif qui à certains égards, ressemble à un vieillissement prématuré (semblable à la progeria).La maladie affecte principalement le système tégumentaire (la peau, les phanères) et immunitaire, avec une atteinte de la moelle osseuse.