scholarly journals Multimorbidity in Pediatric Dermatology: Clinical Case

2020 ◽  
Vol 19 (6) ◽  
pp. 483-489
Author(s):  
Nikolay N. Murashkin ◽  
Alexander I. Materikin ◽  
Eduard T. Ambarchian ◽  
Roman V. Epishev ◽  
Leonid A. Opryatin ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Final Diagnosis ◽  
Molecular Genetic Testing ◽  
Pediatric Dermatology ◽  
Dominant Type ◽  
Recessive Type

Background. Nowadays, dermatoses with mixed clinical picture and resistant to classical management become more common. The presence of various genetic disorders typical for most chronic dermatoses may indicate possible combination of several nosologies.Clinical Case Description. The article presents the clinical case of multimorbid condition in 10 years old patient who has nucleotide variants in CARD14 and EXPH5 genes. Mutations in CARD14 gene are typical for patients with type 2 psoriasis and pityriasis rubra pilaris (autosomal dominant type), while mutations in EXPH5 gene are typical for patients with non-specific epidermolysis bullosa (autosomal recessive type). Mutation in the TGM1 gene that is described in patients with congenital ichthyosis (autosomal recessive type), pathogenic mutations in KRT74 gene typical for ectodermal dysplasia, hypotrichosis and uncombable hair syndrome, and mutations in the KRT86 gene typical for monilethrix were also revealed. Medical history taking and histological examination as well as clinical data evaluating are crucial for correct diagnosis. They allow to understand the absence of the such manifestations in relatives and reveal various pathological processes in the epidermis. Molecular genetic testing with new generation sequencing (NGS) helps to finally establish the diagnosis and determine the further tactics for patient management.Conclusion. Multidisciplinary approach and use of high-technology methods of examination and treatment (such as molecular genetic testing and biological therapy) are required for final diagnosis in severe forms of chronic dermatosis resistant to treatment and for decision on correct tactics for the further management of such patients.

scholarly journals Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Sickle Cell Anemia

2021 ◽  
Vol 8 ◽  
Author(s):  
Lisa M. Shook ◽  
Deidra Haygood ◽  
Charles T. Quinn
Keyword(s):  
Genetic Testing ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Final Diagnosis ◽  
The United States ◽  
Molecular Genetic Testing ◽  
Benign Condition

Sickle cell disease (SCD) is a group of related yet genetically complex hemoglobinopathies. Universal newborn screening (NBS) for SCD is performed in the United States and many other nations. Classical, protein-based laboratory methods are often adequate for the diagnosis of SCD but have specific limitations in the context of NBS. A particular challenge is the differentiation of sickle cell anemia (SCA) from the benign condition, compound heterozygosity for HbS and gene-deletion hereditary persistence of fetal hemoglobin (HbS/HPFH). We describe a sequential cohort of 44 newborns identified over 4.5 years who had molecular genetic testing incorporated into NBS for presumed SCA (an “FS” pattern). The final diagnosis was something other than SCA in six newborns (12%). Three (7%) had HbS/HPFH. All had a final, correct diagnosis at the time of their first scheduled clinic visit in our center (median 8 weeks of age). None received initial counseling for an incorrect diagnosis. In summary, genetic testing as a component of NBS for SCD is necessary to provide correct genetic counseling and education for all newborns' families at their first visit to a sickle cell center. Genetic testing also permits the use of early, pre-symptomatic hydroxyurea therapy by preventing infants with HbS/HPFH from receiving unnecessary therapy. We argue that genetic testing should be incorporated into contemporary NBS for SCD.

Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing

2005 ◽  
Vol 152 (6) ◽  
pp. 1353-1356 ◽  
Author(s):  
M. Akiyama ◽  
Y. Tsuji-Abe ◽  
M. Yanagihara ◽  
K. Nakajima ◽  
H. Kodama ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Molecular Genetic Testing

Orpha disease – FRASER syndrome (ORPHA:2052) in children: phenotype and genotype characteristics

2021 ◽  
Vol 25 (3) ◽  
pp. 28-35
Author(s):  
J. G. Leviashvili ◽  
N. D. Savenkova
Keyword(s):  
Rare Disease ◽  
Respiratory System ◽  
Umbilical Hernia ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Molecular Genetic Testing ◽  
Fraser Syndrome ◽  
Recessive Type ◽  
Icd 10

Fraser syndrome (OMIM # 219000; ORPHA: 2052; ICD-10: Q87.0) is a rare, disease with an autosomal recessive type of inheritance is characterized by abnormalities in the development of the eyes, kidneys, larynx, ears, and bone systems (cryptophthalmos, syndactyly, abnormalities of the kidneys, urogenital tract, and respiratory system). The article presents current literature data on the phenotypic and genotypic features of Fraser syndrome, the management of patients with new opportunities for genetic diagnosis and treatment. The syndrome, described by D. Fraser in 1962, is caused by mutations in the FRAS1, FREM2, GRIP genes. The diagnosis of the Fraser syndrome phenotype is established in the presence of the main criteria (cryptophthalmos, syndactyly, abnormalities of the urinary and respiratory system, genitals, family history indicating a closely related marriage) and secondary (congenital malformations of the nose and ears, skull ossification defects, anorectal abnormalities, umbilical hernia, etc.). Molecular genetic testing proves a rare disease, requires genetic counseling. The management of patients is carried out jointly by an ophthalmologist, an otolaryngologist, an audiologist, a nephrologist, a urologist, a maxillofacial surgeon and other specialists.

scholarly journals Molecular Genetic Testing in Clinical Diagnostic Assessments That Demonstrate Correlations in Patients With Autosomal Recessive Inherited Retinal Dystrophy

2015 ◽  
Vol 133 (4) ◽  
pp. 427 ◽  
Author(s):  
Xiaoxing Liu ◽  
Jingjing Xiao ◽  
Hui Huang ◽  
Liping Guan ◽  
Kanxing Zhao ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Retinal Dystrophy ◽  
Molecular Genetic Testing ◽  
Clinical Diagnostic ◽  
Inherited Retinal Dystrophy

THE USE OF MOLECULAR-GENETIC TESTING TO CONFIRM THE DIAGNOSIS OF PRIMARY-MULTIPLE LUNG CANCER (PMLC): A DESCRIPTION OF THE CLINICAL CASE

2017 ◽  
Vol 63 (4) ◽  
pp. 655-656
Author(s):  
Andrey Nefedov ◽  
Vladislav Tyurin ◽  
Yevgeniy Imyanitov ◽  
Natalya Mityushkina
Keyword(s):  
Lung Cancer ◽  
Genetic Testing ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
Kras Mutations ◽  
Independent Origin ◽  
Bilateral Lung

This article describes a case of synchronous bilateral lung cancer, which was diagnosed with the use of molecular-ge-netics testing. Identification of two distinct KRAS mutations in tumors of right and left lungs supported independent origin of these neoplasms.

A novel keratin 10 gene mutation causing epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) in a term neonate

2017 ◽  
Vol 6 (1) ◽  
Author(s):  
Satyaranjan Pegu ◽  
Jaya. P. Bodani ◽  
Edmond G. Lemire ◽  
Karen I. Holfeld
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Autosomal Recessive Inheritance ◽  
Skin Condition ◽  
Molecular Genetic Testing ◽  
Epidermolytic Hyperkeratosis ◽  
Autosomal Dominant Fashion ◽  
Congenital Ichthyosiform Erythroderma

Abstract Epidermolytic hyperkeratosis (EHK) is a rare skin condition characterized by erythroderma and blistering at birth, leading to generalized hyperkeratosis of varying severity in adulthood. EHK is frequently mistaken for staphylococcal scalded skin syndrome (SSSS) or epidermolysis bullosa. EHK is usually inherited in an autosomal dominant fashion, but very rare autosomal recessive families have been reported. Molecular genetic testing in this patient identified a novel homozygous keratin-10 gene (KRT10) mutation consistent with autosomal recessive inheritance. Furthermore, diagnosis was achieved by molecular genetic testing circumventing the need to perform a skin biopsy.

scholarly journals Diagnosing Paraproteinemic Keratopathy: A Case Report

2021 ◽  
pp. 337-343
Author(s):  
Eugenie Mok ◽  
Ka Wai Kam ◽  
Anthony J. Aldave ◽  
Alvin L. Young
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Testing ◽  
Serum Protein ◽  
Molecular Genetic ◽  
Anterior Segment ◽  
Protein Electrophoresis ◽  
Serum Protein Electrophoresis ◽  
Optical Coherence ◽  
Molecular Genetic Testing ◽  
Corneal Opacities

A 65-year-old man presented with bilateral, painless, progressive blurring of vision over 9 years. Slit-lamp examination revealed bilateral subepithelial corneal opacities in clusters located at the mid-periphery. Anterior segment optical coherence tomography, in vivo confocal microscopy (IVCM), serum protein electrophoresis, and molecular genetic testing were performed to evaluate the cause of corneal opacities. Anterior segment optical coherence tomography revealed a band-like, hyperreflective lesion in the Bowman layer and anterior stroma of both corneas. IVCM revealed hyperreflective deposits in the epithelium, anterior stroma, and endothelium. Serum protein electrophoresis identified the presence of paraproteins (immunoglobulin kappa), and molecular genetic testing revealed absence of mutations in the transforming growth factor beta-induced gene (<i>TGFBI</i>) and collagen type XVII alpha 1 gene (<i>COL17A1</i>). The ocular diagnosis of paraproteinemic keratopathy eventually led to a systemic diagnosis of monoclonal gammopathy of undetermined significance by our hematologist/oncologist. Paraproteinemic keratopathy is a rare differential diagnosis in patients with bilateral corneal opacities and therefore may be misdiagnosed as corneal dystrophy or neglected as scars. In patients with bilateral corneal opacities of unknown cause, serological examination, adjunct anterior segment imaging, and molecular genetic testing play a role in establishing the diagnosis.

scholarly journals Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology

2017 ◽  
Vol 141 (10) ◽  
pp. 1342-1393 ◽  
Author(s):  
Daniel A. Arber ◽  
Michael J. Borowitz ◽  
Melissa Cessna ◽  
Joan Etzell ◽  
Kathryn Foucar ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Acute Leukemia ◽  
Lymphoblastic Leukemia ◽  
Molecular Genetic ◽  
Clinical Information ◽  
Molecular Genetic Testing ◽  
Acute Leukemias ◽  
Prognostic Evaluation ◽  
The Public ◽  
American Society

Context.— A complete diagnosis of acute leukemia requires knowledge of clinical information combined with morphologic evaluation, immunophenotyping and karyotype analysis, and often, molecular genetic testing. Although many aspects of the workup for acute leukemia are well accepted, few guidelines have addressed the different aspects of the diagnostic evaluation of samples from patients suspected to have acute leukemia. Objective.— To develop a guideline for treating physicians and pathologists involved in the diagnostic and prognostic evaluation of new acute leukemia samples, including acute lymphoblastic leukemia, acute myeloid leukemia, and acute leukemias of ambiguous lineage. Design.— The College of American Pathologists and the American Society of Hematology convened a panel of experts in hematology and hematopathology to develop recommendations. A systematic evidence review was conducted to address 6 key questions. Recommendations were derived from strength of evidence, feedback received during the public comment period, and expert panel consensus. Results.— Twenty-seven guideline statements were established, which ranged from recommendations on what clinical and laboratory information should be available as part of the diagnostic and prognostic evaluation of acute leukemia samples to what types of testing should be performed routinely, with recommendations on where such testing should be performed and how the results should be reported. Conclusions.— The guideline provides a framework for the multiple steps, including laboratory testing, in the evaluation of acute leukemia samples. Some aspects of the guideline, especially molecular genetic testing in acute leukemia, are rapidly changing with new supportive literature, which will require on-going updates for the guideline to remain relevant.

Sign in / Sign up

Export Citation Format

Share Document