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    RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.
    Mech Ageing Dev 2018 May 9. Epub 2018 May 9.
    Department of Clinical Cell Biology and Medicine, Chiba University, Graduate School of Medicine, Chiba, Japan.
    Progeroid syndrome is a group of disorders characterized by the early onset of diseases that are associated with aging. Best known examples are Werner syndrome, which is adult onset and results from disease-causing DNA sequence variants in the RecQ helicase gene WRN, and Hutchison-Gilford progeria syndrome, which is childhood-onset and results from unique, recurrent disease-causing DNA sequence variants of the gene LMNA that encodes nuclear intermediate filaments. Related single gene RecQ disorders are Bloom syndrome and Rothmund-Thomson syndrome. Read More

    Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
    Int J Mol Sci 2018 Apr 6;19(4). Epub 2018 Apr 6.
    Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy.
    Biallelic mutations in gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families exemplifying clinical and allelic heterogeneity of RTS-II, and report the effect of pathogenic variants by predictions and transcripts analyses. Complete phenotype of patients #39 and #42 whose affected siblings developed osteosarcoma correlates with their c. Read More

    Management of a granulomatous lesion in a patient with Kindler's Syndrome.
    J Indian Soc Periodontol 2018 Jan-Feb;22(1):60-63
    Department of Periodontics, JMF's ACPM Dental College and Hospital, Dhule, Maharashtra, India.
    Kindler's syndrome is a rare vesiculobullous dermatological disorder sometimes involving multiple organs. First described by Kindler. The differential diagnosis includes Rothmund-Thomson syndrome and epidermolysis bullosa. Read More

    Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.
    Gene 2018 May 17;654:110-115. Epub 2018 Feb 17.
    Department of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China; Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530002, PR China; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, PR China; Division of Genetics and Genomics, Boston Children's Hospital, Department of Neurology, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, United States. Electronic address:
    Background: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder mainly characterized by cutaneous poikiloderma, sparse hair, short stature and skeletal defects. Deleterious mutations in the RecQ-like DNA helicase type 4 (RECQL4) gene have been detected in approximately two-thirds of RTS cases.

    Methods: Three Chinese patients from two unrelated families were enrolled for clinical evaluation. Read More

    Rothmund-Thomson syndrome (RTS) with osteosarcoma due to mutation.
    BMJ Case Rep 2018 Jan 23;2018. Epub 2018 Jan 23.
    Department of Combined Medicine-Pediatrics Residency Program, Hurley Medical Center, Flint, Michigan, USA.
    Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder with clinical features consisting of poikiloderma, skeletal abnormalities, sparse hair, absent or scanty eyelashes and eyebrows and short stature. Patients with RTS due to genetic mutations of genes carry a high risk of developing osteosarcoma during childhood. Because of this, early genetic diagnosis is important. Read More

    Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair.
    Nat Commun 2017 Dec 11;8(1):2039. Epub 2017 Dec 11.
    Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD, 21224, USA.
    Pathway choice within DNA double-strand break (DSB) repair is a tightly regulated process to maintain genome integrity. RECQL4, deficient in Rothmund-Thomson Syndrome, promotes the two major DSB repair pathways, non-homologous end joining (NHEJ) and homologous recombination (HR). Here we report that RECQL4 promotes and coordinates NHEJ and HR in different cell cycle phases. Read More

    DNA replication timing alterations identify common markers between distinct progeroid diseases.
    Proc Natl Acad Sci U S A 2017 Dec 1;114(51):E10972-E10980. Epub 2017 Dec 1.
    Department of Biological Science, Florida State University, Tallahassee, FL 32306;
    Progeroid syndromes are rare genetic disorders that phenotypically resemble natural aging. Different causal mutations have been identified, but no molecular alterations have been identified that are in common to these diseases. DNA replication timing (RT) is a robust cell type-specific epigenetic feature highly conserved in the same cell types from different individuals but altered in disease. Read More

    Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
    Cancer Lett 2018 01 7;413:1-10. Epub 2017 Nov 7.
    Radiation Emergency Assistance Center and Training Site, Oak Ridge Associated Universities, Oak Ridge Institute for Science and Education, Oak Ridge, TN 37830, USA. Electronic address:
    Human RecQ helicases that share homology with E. coli RecQ helicase play critical roles in diverse biological activities such as DNA replication, transcription, recombination and repair. Mutations in three of the five human RecQ helicases (RecQ1, WRN, BLM, RecQL4 and RecQ5) result in autosomal recessive syndromes characterized by accelerated aging symptoms and cancer incidence. Read More

    Ophthalmic manifestations in Rothmund-Thomson syndrome: Case report and review of literature.
    Indian J Ophthalmol 2017 Oct;65(10):1025-1027
    Department of Ophthalmology, Regional Institute of Ophthalmology, Bangalore Medical College and Research Institute, Minto Eye Hospital, Bengaluru, Karnataka, India.
    A 24-year-old male patient presented to us with diminution of vision in both eyes with watering and photophobia for the past 8 years. General physical examination showed short stature and poikiloderma. Ocular findings include photophobia with reflex tearing, dry eye, cicatricial ectropion, symblepharon approaching pupillary area of cornea, and multiple superficial punctuate erosions on the cornea. Read More

    Tumor Syndromes That Include Bone Tumors: An Update.
    Surg Pathol Clin 2017 Sep;10(3):749-764
    Department of Medical Genetics and Skeletal Rare Diseases, Rizzoli Orthopedic Institute, Via Pupilli 1, Bologna 40136, Italy.
    Tumor syndromes, including bone neoplasias, are genetic predisposing conditions characterized by the development of a pattern of malignancies within a family at an early age of onset. Occurrence of bilateral, multifocal, or metachronous neoplasias and specific histopathologic findings suggest a genetic predisposition syndrome. Additional clinical features not related to the neoplasia can be a hallmark of specific genetic syndromes. Read More

    Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
    Clin Cancer Res 2017 Jun;23(11):e23-e31
    National Cancer Institute, Rockville, Maryland.
    DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. Read More

    Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.
    Hum Mol Genet 2017 08;26(16):3046-3055
    Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, Houston, TX 77030, USA.
    Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small stature, sparse hair, skeletal abnormalities, increased risk of osteosarcoma, and decreased bone mass. To date, there has not been a comprehensive evaluation of the prevalence and extent of metabolic bone disease in RTS. Furthermore, the mechanisms that result in this phenotype are largely unknown. Read More

    [Hereditary bone tumors].
    Pathologe 2017 May;38(3):179-185
    Institut für Pathologie, Knochentumor-Referenzzentrum, Universitätsspital Basel, Schönbeinstrasse 40, 4031, Basel, Schweiz.
    Hereditary bone tumors are rare and result from mutations affecting cell cycle regulation (e.g. retinoblastoma syndrome/RB1 and Li-Fraumeni syndrome/TP53, Gardner syndrome/APC), energy metabolism (enchondromatosis/IDH1/2), complex signaling cascades (multiple hereditary exostoses/EXT1/2) and DNA integrity (Rothmund-Thomson/RECQL4, Werner/WRN and Bloom syndromes/BLM). Read More

    A helical bundle in the N-terminal domain of the BLM helicase mediates dimer and potentially hexamer formation.
    J Biol Chem 2017 04 22;292(14):5909-5920. Epub 2017 Feb 22.
    From the College of Life Sciences, Northwest A&F University, Yangling, Shaanxi 712100, China,
    Helicases play a critical role in processes such as replication or recombination by unwinding double-stranded DNA; mutations of these genes can therefore have devastating biological consequences. In humans, mutations in genes of three members of the RecQ family helicases (, , and ) give rise to three strikingly distinctive clinical phenotypes: Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome, respectively. However, the molecular basis for these varying phenotypic outcomes is unclear, in part because a full mechanistic description of helicase activity is lacking. Read More

    Ribosomal Protein S3 Negatively Regulates Unwinding Activity of RecQ-like Helicase 4 through Their Physical Interaction.
    J Biol Chem 2017 03 3;292(10):4313-4325. Epub 2017 Feb 3.
    From the Molecular and Cell Biology, Taiwan International Graduate Program and.
    Human RecQ-like helicase 4 (RECQL4) plays crucial roles in replication initiation and DNA repair; however, the contextual regulation of its unwinding activity is not fully described. Mutations in RECQL4 have been linked to three diseases including Rothmund-Thomson syndrome, which is characterized by osteoskeletal deformities, photosensitivity, and increased osteosarcoma susceptibility. Understanding regulation of RECQL4 helicase activity by interaction partners will allow deciphering its role as an enzyme and a signaling cofactor in different cellular contexts. Read More

    Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
    Eur J Pediatr 2017 Feb 30;176(2):279-283. Epub 2016 Dec 30.
    Department of Clinical genetics, Leiden University Medical Centre, Postzone K5-R, PO box 9600, 2300 RC, Leiden, The Netherlands.
    We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. At the age of 35, he was diagnosed with Hodgkin's lymphoma. Read More

    Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.
    Hum Mutat 2017 Feb 9;38(2):193-203. Epub 2016 Dec 9.
    Department of Genome Sciences, University of Washington, Seattle, Washington.
    Heritable loss of function mutations in the human RECQ helicase genes BLM, WRN, and RECQL4 cause Bloom, Werner, and Rothmund-Thomson syndromes, cancer predispositions with additional developmental or progeroid features. In order to better understand RECQ pathogenic and population variation, we systematically analyzed genetic variation in all five human RECQ helicase genes. A total of 3,741 unique base pair-level variants were identified, across 17,605 potential mutation sites. Read More

    Neurodegeneration in accelerated aging.
    Dan Med J 2016 Nov;63(11)
    The growing proportion of elderly people represents an increasing economic burden, not least because of age-associated diseases that pose a significant cost to the health service. Finding possible interventions to age-associated disorders therefore have wide ranging implications. A number of genetically defined accelerated aging diseases have been characterized that can aid in our understanding of aging. Read More

    Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition.
    J Am Acad Dermatol 2016 Nov;75(5):855-870
    Department of Dermatology, Henry Ford Hospital, Detroit, Michigan. Electronic address:
    Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. This review will focus specifically on the syndromes with malignant potential, including xeroderma pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome. Read More

    Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature.
    Arq Bras Oftalmol 2016 May-Jun;79(3):186-8
    Cornea and External Disease Unit, Hospital de São Paulo, São Paulo, SP, Brazil.
    Rothmund-Thomson syndrome (RTS) is a rare dermatosis with about 300 cases reported to date. The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes. These cases demonstrate RTS ocular surface findings different to those usually described. Read More

    RECQL4 Promotes DNA End Resection in Repair of DNA Double-Strand Breaks.
    Cell Rep 2016 06 16;16(1):161-173. Epub 2016 Jun 16.
    Laboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA; Center for Healthy Aging and Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark. Electronic address:
    The RecQ helicase RECQL4, mutated in Rothmund-Thomson syndrome, regulates genome stability, aging, and cancer. Here, we identify a crucial role for RECQL4 in DNA end resection, which is the initial and an essential step of homologous recombination (HR)-dependent DNA double-strand break repair (DSBR). Depletion of RECQL4 severely reduces HR-mediated repair and 5' end resection in vivo. Read More

    Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome.
    Contemp Clin Dent 2016 Apr-Jun;7(2):240-2
    Department of Pediatric Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
    The purpose of this study was to report the clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. The patient had alopecia, delayed speech, low weight and height, cholestasis, and iron deficiency anemia. Furthermore, there were carious lesions and darkened spots on all primary molars. Read More

    Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.
    Ageing Res Rev 2017 Jan 7;33:30-35. Epub 2016 Jun 7.
    Texas Children's Cancer Center, Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, 1102 Bates Avenue, Suite 1200, Houston, TX 77030, USA. Electronic address:
    Rothmund-Thomson Syndrome (RTS) is a rare autosomal recessive disease which manifests several clinical features of accelerated aging. These findings include atrophic skin and pigment changes, alopecia, osteopenia, cataracts, and an increased incidence of cancer for patients carrying RECQL4 germline mutations. Mutations in RECQL4 are responsible for the majority of cases of RTS. Read More

    Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
    Mol Genet Genomic Med 2016 May 24;4(3):359-66. Epub 2016 Feb 24.
    Division of Human GeneticsDepartment of PaediatricsInselspitalUniversity of BernCH-3010BernSwitzerland; Department of Clinical ResearchUniversity of BernCH-3010BernSwitzerland.
    Background: Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. In a variety of hereditary syndromes such as Rothmund-Thomson syndrome (RTS), Clericuzio-type poikiloderma with neutropenia (PN) and Dyskeratosis Congenita (DC), poikiloderma occurs as one of the main symptoms. Here, we report on genotype and phenotype data of a cohort of 44 index patients with RTS or related genodermatoses. Read More

    Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases.
    Ageing Res Rev 2017 Jan 26;33:36-51. Epub 2016 May 26.
    University of Arizona Cancer Center, 1515 N. Campbell Ave., Tucson, AZ 81724, United States. Electronic address:
    Genomic instability is a hallmark of cancer and aging. Premature aging (progeroid) syndromes are often caused by mutations in genes whose function is to ensure genomic integrity. The RecQ family of DNA helicases is highly conserved and plays crucial roles as genome caretakers. Read More

    Mitochondrial functions of RECQL4 are required for the prevention of aerobic glycolysis-dependent cell invasion.
    J Cell Sci 2016 Apr 18;129(7):1312-8. Epub 2016 Feb 18.
    National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110067, India
    Germline mutations in RECQL4 helicase are associated with Rothmund-Thomson syndrome, which is characterized by a predisposition to cancer. RECQL4 localizes to the mitochondria, where it acts as an accessory factor during mitochondrial DNA replication. To understand the specific mitochondrial functions of RECQL4, we created isogenic cell lines, in which the mitochondrial localization of the helicase was either retained or abolished. Read More

    Ocular manifestations of genetic skin disorders.
    Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2.
    The Vision Center, Children's Hospital Los Angeles; Department of Ophthalmology, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, MS #88, Los Angeles, CA, 90027.
    Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Read More

    Familial skin cancer syndromes: Increased risk of nonmelanotic skin cancers and extracutaneous tumors.
    J Am Acad Dermatol 2016 Mar;74(3):437-51; quiz 452-4
    Department of Dermatology, Stanford University Medical Center, Stanford, California. Electronic address:
    Nonmelanoma skin cancers (NMSCs) represent the most common malignancies worldwide, with reported incidence rising each year. Both cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), as well as other NMSCs, represent complex diseases with a combination of environmental and genetic risk factors. In general, hereditary cancer syndromes that increase the risk of NMSC fall under several broad categories: those associated with immunodeficiencies, those that affect skin pigmentation, and those that perturb key molecular pathways involved in the pathogenesis of NMSCs. Read More

    RECQL4 helicase has oncogenic potential in sporadic breast cancers.
    J Pathol 2016 Mar 2;238(4):495-501. Epub 2016 Feb 2.
    Academic Unit of Oncology, Division of Cancer and Stem Cells, School of Medicine, University of Nottingham, UK.
    RECQL4 helicase is a molecular motor that unwinds DNA, a process essential during DNA replication and DNA repair. Germ-line mutations in RECQL4 cause type II Rothmund-Thomson syndrome (RTS), characterized by a premature ageing phenotype and cancer predisposition. RECQL4 is widely considered to be a tumour suppressor, although its role in human breast cancer is largely unknown. Read More

    Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome.
    Case Rep Med 2015 5;2015:495164. Epub 2015 Nov 5.
    University of Texas Health Science Center, 6431 Fannin Street, MSB 2.130B, Houston, TX 77030, USA.
    Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. Although Rothmund-Thomson syndrome is associated with diminished bone mineral density in addition to multiple skeletal abnormalities, there are few reports of the association with stress fractures or pathologic fractures in low energy trauma or delayed healing of fractures. Presented is a case of a young adult male with Rothmund-Thomson syndrome presenting with multiple episodes of long bone fractures caused by low energy trauma with one of the fractures exhibiting significantly delayed healing. Read More

    Leg ulcer in a patient with Rothmund-Thomson syndrome.
    Springerplus 2015 5;4:572. Epub 2015 Oct 5.
    Department of Plastic, Reconstructive and Aesthetic Surgery, Haydarpasa Numune Training and Research Hospital, Istanbul, Turkey.
    Background: Rothmund-Thomson syndrome is a rare genetic condition exhibiting some dermatological, craniofacial, ophthalmological, and central nervous system abnormalities.

    Case Description: A 51-year-old male patient, diagnosed with Rothmund-Thomson syndrome, attended to our outpatient clinic with complaint of unhealing wound in lower part of his left leg. Over this period, he had received various local therapies such as creams, wound dressings and hyperbaric oxygen therapy but no progress could be achieved. Read More

    Dental management of Rothmund-Thomson syndrome with partial anodontia.
    BMJ Case Rep 2015 Jun 1;2015. Epub 2015 Jun 1.
    Department of Pedodontics and Preventive Dentistry, Sharad Pawar Dental College, Wardha, Maharashtra, India.
    Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive trait disease. It is characterised by skin, eye and skeletal abnormalities. Abnormalities associated with teeth include abnormal crown and root formations, rudimentary or hypoplastic teeth, microdontia and multiple missing teeth. Read More

    The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.
    PLoS Genet 2015 Apr 10;11(4):e1005160. Epub 2015 Apr 10.
    St. Vincent's Institute of Medical Research, Fitzroy, Victoria, Australia; Department of Medicine, St. Vincent's Hospital, The University of Melbourne, Fitzroy, Victoria, Australia; ACRF Rational Drug Discovery Centre, St. Vincent's Institute of Medical Research, Fitzroy, Victoria, Australia.
    RECQL4 mutations are associated with Rothmund Thomson Syndrome (RTS), RAPADILINO Syndrome and Baller-Gerold Syndrome. These patients display a range of benign skeletal abnormalities such as low bone mass. In addition, RTS patients have a highly increased incidence of osteosarcoma (OS). Read More

    Plasmodium falciparum Werner homologue is a nuclear protein and its biochemical activities reside in the N-terminal region.
    Protoplasma 2016 Jan 1;253(1):45-60. Epub 2015 Apr 1.
    Malaria Group, International Centre for Genetic Engineering and Biotechnology, P. O. Box 10504, Aruna Asaf Ali Marg, New Delhi, 110067, India.
    RecQ helicases, also addressed as a gatekeeper of genome, are an inevitable family of genome scrutiny proteins conserved from prokaryotes to eukaryotes and play a vital role in DNA metabolism. The deficiencies of three RecQ proteins out of five are involved in genetic abnormalities like Bloom syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson syndrome (RTS). It is noteworthy that Plasmodium falciparum contains only two members of the RecQ family as opposed to five members present in the host Homo sapiens. Read More

    RECQL4 Regulates p53 Function In Vivo During Skeletogenesis.
    J Bone Miner Res 2015 Jun;30(6):1077-89
    Texas Children's Cancer Center, Department of Pediatrics, Houston, TX, USA.
    RECQ DNA helicases play critical roles in maintaining genomic stability, but their role in development has been less well studied. Rothmund-Thomson syndrome, RAPADILINO, and Baller-Gerold syndrome are rare genetic disorders caused by mutations in the RECQL4 gene. These patients have significant skeletal developmental abnormalities including radial ray, limb and craniofacial defects. Read More

    Osteosarcoma in patients with Rothmund-Thomson syndrome.
    Pediatr Hematol Oncol 2015 Feb 31;32(1):32-40. Epub 2014 Dec 31.
    1Cooperative Osteosarcoma Study Group (COSS), Pediatrics 5 (Oncology, Hematology, Immunology), Klinikum Stuttgart-Olgahospital , Germany.
    Background: Rothmund-Thomson syndrome (RTS) is associated with an increased risk of osteosarcoma, but information about affected patients is limited.

    Procedure: Seven patients with osteosarcoma, treated in the Cooperative Osteosarcoma Study Group-trials, had a diagnosis of RTS. Their patient-, tumor- and treatment-related variables and outcome were reviewed retrospectively. Read More

    Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature.
    J Foot Ankle Surg 2016 Mar-Apr;55(2):291-3. Epub 2014 Oct 18.
    Fellowship Director, Foot and Ankle Reconstruction, and Department Chair, Foot and Ankle Department, Coordinated Health, Bethlehem, PA. Electronic address:
    Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis, characterized by poikiloderma, small stature, juvenile cataracts, sparse hair, skeletal abnormalities, and a predisposition to osteogenic sarcomas and skin cancers. Although numerous skeletal abnormalities have been described in patients with Rothmund-Thomson syndrome, to our knowledge, only 1 study has shown evidence of delayed fracture healing in a patient with Rothmund-Thomson syndrome. We present the case of a 13-year-old female diagnosed with Rothmund-Thomson syndrome who demonstrated delayed union of her fifth metatarsal after a Jones fracture. Read More

    Clinicopathological characteristics of xeroderma pigmentosum associated with keratoacanthoma: a case report and literature review.
    Int J Clin Exp Med 2014 15;7(10):3410-4. Epub 2014 Oct 15.
    Department of Pathology, 456th Hospital of Jinan Military Command Jinan 250031, China.
    Objective: To investigate the clinicopathological characteristics, diagnosis and differential diagnosis, and treatment of xeroderma pigmentosum associated with keratoacanthoma in an infant.

    Methods: The clinical manifestations of xeroderma pigmentosum associated with keratoacanthoma were assessed in an 18-month old boy. The morphological and histological features of the lesions were examined by light microscopy. Read More

    [Ocular manifestations in hereditary diseases with defects in DNA repair].
    Klin Oczna 2014 ;116(2):142-5
    DNA repair is involved in maintaining the stability of the genome and accurate sending of genetic information. DNA repair pathways remove many DNA damages induced by endo- and exogenous factors. There are several DNA repair pathways in human cells, including base or nucleotide excision system, homologous recombination system and non-homologous end joining. Read More

    Kindler's syndrome: a report of five cases in a family.
    J Coll Physicians Surg Pak 2014 Oct;24(10):763-5
    Department of Dermatology, PNS Shifa, Karachi.
    Kindler's Syndrome (KS) is a rare genodermatosis with autosomal recessive mode of inheritance. The disease results from homozygous mutations on both alleles of the FERMT-1 gene (also known as KIND-1 gene) that encodes the protein Kindlin-1 (kindlerin). Clinical features include a constellation of early infantile skin blistering and mild photosensitivity, which improves with age, and progressive poikiloderma with widespread cutaneous atrophy. Read More

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