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 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 Genetic testing for retinitis punctata albescens/fundus albipunctatus

2017 ◽  
Vol 1 (s1) ◽  
pp. 96-98
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Field Testing ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Visual Field Testing ◽  
Fundus Albipunctatus ◽  
Retinitis Punctata Albescens

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for retinitis punctata albescens/fundus albipunctatus (RPA/FA). RPA and FA are reported to have autosomal dominant or autosomal recessive inheritance and are associated with variations in the PRPH2, RHO, RLBP1 and RDH5 genes. There is insufficient data to establish their prevalence. Clinical diagnosis is based on clinical findings, ophthalmological examination, optical coherence tomography, visual field testing and undetectable or severely reduced electroretinogram amplitudes. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for inherited eye misalignment

2017 ◽  
Vol 1 (s1) ◽  
pp. 60-62
Author(s):  
Andi Abeshi ◽  
Francesca Fanelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Autosomal Recessive Inheritance ◽  
Clinical Findings ◽  
Dominant Inheritance ◽  
Visual Acuity Testing

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Inherited eye misalignment (IEM). Forms of IEM associated with variations in the SALL4, CHN1, TUBB3 and KIF21A genes have autosomal dominant inheritance, whereas those associated with variations in the ROBO3, PHOX2A, HOXA1 and HOXB1 genes have autosomal recessive inheritance. The prevalence of MS is currently unknown. Diagnosis is based on clinical findings, family history, visual acuity testing and fundus examination. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for infantile nystagmus

2017 ◽  
Vol 1 (s1) ◽  
pp. 57-59
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Age Of Onset ◽  
Autosomal Recessive Inheritance ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Recessive Inheritance ◽  
Infantile Nystagmus

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for infantile nystagmus (IN). Forms of IN associated with variations in CACNA1F, FRMD7 and GPR143 genes have X-linked recessive inheritance, whereas variations in SLC38A8, TYR and TYRP1 genes have an autosomal recessive inheritance and variations in COL11A1, CRYBA1 and PAX6 genes have an autosomal dominant inheritance. The prevalence of all forms of IN is estimated to be 1 in 5000. Clinical diagnosis is based on clinical findings, age of onset, family history, ophthalmological examination, fundoscopy, electroretinography, optical coherence tomography, slit lamp examination and visual evoked potentials. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Christel Tran ◽  
Vassiliky Konstantopoulou ◽  
Michelle Mecjia ◽  
Kusiel Perlman ◽  
Saadet Mercimek-Mahmutoglu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Glutamate Dehydrogenase ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Heterozygous Mutation ◽  
Hyperinsulinemic Hypoglycemia ◽  
Molecular Genetic Testing ◽  
Autosomal Dominant Disorder ◽  
Activating Mutations ◽  
Multiple Episodes

AbstractHyperinsulinism-hyperammonemia syndrome (HI/HA) is a rare autosomal dominant disorder presenting with hypoglycemia and hyperammonemia. It is caused by activating mutations in theThree patients from two different centers, a 14-month-old female, a 28-year-old female (mother of the first patient) from Toronto and an unrelated 2.5-year-old male from Vienna, presented with multiple episodes of seizures associated with hypoglycemia.All patients had mild to moderate hypoglycemia, inappropriate insulin levels and mild hyperammonemia, thus suggesting a disorder of glutamate dehydrogenase (GDH). Molecular genetic testing of theWe present three new patients with GDH caused by heterozygous mutation in the

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