12,190 results match your criteria Xeroderma Pigmentosum


Polymorphisms in XPC gene and risk for prostate cancer.

Mol Biol Rep 2018 Dec 14. Epub 2018 Dec 14.

Laboratory of Protein Engineering and Bio-active Molecules, National Institute of Applied Science and Technology - University of Carthage, Tunis, Tunisia.

Single nucleotide polymorphisms (SNP) in repair gene DNA such as XPC gene can reduce the DNA repair capacity (DRC). Reduced DRC induce genetic instability and may increase the susceptibility to prostate cancer (PC). We conducted a case-controls study to examine the relationship between XPC Lys939Gln and XPC-PAT polymorphisms and the risk for prostate cancer in Tunisian population. Read More

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December 2018
1 Read

Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris.

J Dermatol 2018 Dec 14. Epub 2018 Dec 14.

Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China.

We report a 21-year-old man with recurrent bullous eruptions and severe itching on the lower legs and feet since 5 years of age. Dry, dirty brown, tile-like scales covered his lower legs with dystrophic toenails. Nodular prurigo-like lesions, scarring papules and milia remitted after the bullous eruptions. Read More

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December 2018

Correlation of xeroderma pigmentosum complementation group F expression with gastric cancer and prognosis.

Oncol Lett 2018 Dec 28;16(6):6971-6976. Epub 2018 Sep 28.

Department of Anesthesia, Dezhou People's Hospital, Dezhou, Shandong 253014, P.R. China.

Correlation of xeroderma pigmentosum complementation group F (XPF) expression with gastric cancer and prognosis was investigated. We randomly selected 76 gastric cancer patients who were admitted to the Second People's Hospital of Dezhou City and received treatment, and detected XPF expression in gastric cancer tissues (observation group) and normal gastric mucosa adjacent to tumor (control group) via immunohistochemistry. Correlation between XPF expression and clinicopathological indicators of gastric cancer was verified via single-factor Chi-square test. Read More

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December 2018

Severe Facial-Disfiguring Xeroderma Pigmentosum With Rapidly Progressing Malignant Tumors.

JAMA Otolaryngol Head Neck Surg 2018 Dec 13. Epub 2018 Dec 13.

Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China.

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December 2018

Macular and Retinal Nerve Fibre Layer Thinning in Xeroderma Pigmentosum: A Cross-sectional Study.

Neuroophthalmology 2018 Dec 22;42(6):356-366. Epub 2018 May 22.

Department of Ophthalmology, St Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.

The purpose of this study was to evaluate retinal thickness in different Xeroderma Pigmentosum (XP) complementation groups using spectral-domain optical coherence tomography (SD-OCT). This was a cross-sectional pilot study of 40 patients with XP. All patients had healthy-looking retinae and optic nerves on slit lamp biomicroscopy, and subtle or no neurological deficits. Read More

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December 2018

Meta-analysis on the association between xeroderma pigmentosum Group A A23G polymorphism and esophageal cancer in a Chinese population.

J Cancer Res Ther 2018 Dec;14(Supplement):S1173-S1177

Department of Radiation Oncology, Qilu Hospital of Shandong University, Jinan 250012, China.

Aim Of The Study: Several studies have evaluated the correlation between xeroderma pigmentosum Group A (XPA) A23G polymorphism (rs 1800975) and esophageal cancer in Chinese people. However, the results are inconsistent. To assess the effects of XPA A23G variants on the risk for development of esophageal cancer in the Chinese population, a meta-analysis was performed. Read More

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December 2018
2 Reads

Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters.

Acta Paediatr 2018 Dec 11. Epub 2018 Dec 11.

Fundación Pública Galega de Medicina Xenómica-SERGAS, CIBERER, IDIS, Grupo de Medicina Xenómica-Universidade de Santiago de Compostela, Santiago de CompostelaSpain.

Ichthyosis prematurity syndrome (IPS), or ichthyosis congenita type IV, is a rare syndromic form of autosomic recessive ichthyosis caused by mutations in fatty acid transport protein 4 (FATP4), also known as SLC27A4. Patients with a disrupted FATP4 gene are usually born prematurely with thick desquamating skin and other complications, such as neonatal asphyxia, eosinophilia and elevated serum immunoglobulin E levels. Symptoms become less severe after the first months of life, evolving to non-scaly ichthyosis with follicular hyperkeratosis in adulthood (1, 2). Read More

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December 2018
3 Reads

Placental steroid sulphatase deficiency: an approach to antenatal care and delivery.

Ann Saudi Med 2018 Nov-Dec;38(6):445-449

Frieda Elsje Dreyer, Department of Obstetrics and Gynaecology,, Sunderland Royal Hospital,, Sunderland SR4 7TP, United Kingdom, T: +44 0191 565 6256, ORCID: http://orcid.org/0000-0002.0997-9919.

Placental steroid sulphatase deficiency (SSD) is an X-linked inborn error of metabolism. Congenital X-linked ichthyosis (XLI) is a genetic disorder of keratinisation caused by steroid sulphatase (STS) deficiency, which results in a scaling skin condition in male infants shortly after birth. It may be associated with failed induction of labor and prolonged labor leading to cesarean delivery due to 'cervical dystocia'. Read More

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December 2018

The connexin26 human mutation N14K disrupts cytosolic intersubunit interactions and promotes channel opening.

J Gen Physiol 2018 Dec 7. Epub 2018 Dec 7.

Department of Pharmacology, Physiology & Neuroscience, New Jersey Medical School, Rutgers University, Newark, NJ

A group of human mutations within the N-terminal (NT) domain of connexin 26 (Cx26) hemichannels produce aberrant channel activity, which gives rise to deafness and skin disorders, including keratitis-ichthyosis-deafness (KID) syndrome. Structural and functional studies indicate that the NT of connexin hemichannels is folded into the pore, where it plays important roles in permeability and gating. In this study, we explore the molecular basis by which N14K, an NT KID mutant, promotes gain of function. Read More

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December 2018

Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5.

J Dermatol Sci 2018 Nov 20. Epub 2018 Nov 20.

Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo 060-0812, Japan. Electronic address:

Background: ABHD5 mutations cause Chanarin-Dorfman syndrome accompanied by ichthyosis. ω-O-Acylceramide (acylceramide) is essential for skin permeability barrier formation. Acylceramide production is impaired in Abhd5 knockout mice. Read More

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November 2018

Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10.

J Dtsch Dermatol Ges 2018 Dec 6. Epub 2018 Dec 6.

Department of Dermatology, Carl Gustav Carus University Medical Center, Dresden Technical University, Dresden, Germany.

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December 2018
2 Reads

Prenatal sonographic diagnosis of Harlequin ichthyosis.

J Clin Ultrasound 2018 Dec 3. Epub 2018 Dec 3.

Department of Obstetrics and Gynaecology, Centro Hospitalar São João, Porto, Portugal.

Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses. So far, there are only a few reports of prenatal diagnosis in the literature, as prenatal sonographic features are quite subtle. We report a case of prenatal diagnosis of Harlequin ichthyosis on third-trimester sonographic examination in a consanguineous couple with no history of the disease and describe its characteristic sonographic features. Read More

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December 2018
1 Read

Schopf-Schulz-Passarge Syndrome.

Indian Dermatol Online J 2018 Nov-Dec;9(6):448-451

Department of Dermatology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.

Schopf-Schulz-Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia that has autosomal recessive inheritance. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid apocrine hidrocystomas. A 36-year-old male presented with multiple eyelid and periocular apocrine hidrocystomas, ichthyosis, palmoplantar keratoderma, hypodontia, nail dystrophy, and thin scalp hair. Read More

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December 2018
1 Read

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

JAMA Dermatol 2018 Dec 5. Epub 2018 Dec 5.

Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland.

Importance: Wide use of genomic sequencing to diagnose disease has raised concern about the extent of genotype-phenotype correlations.

Objective: To correlate disease-associated allele frequencies with expected and reported prevalence of clinical disease.

Design, Setting, And Participants: Xeroderma pigmentosum (XP), a recessive, cancer-prone, neurocutaneous disorder, was used as a model for this study. Read More

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December 2018
7 Reads

Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman.

JAAD Case Rep 2018 Nov 14;4(10):1074-1076. Epub 2018 Nov 14.

Division of Dermatology, Dell Medical School, University of Texas at Austin, Austin, Texas.

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November 2018
1 Read

Erosive pustular dermatosis of the scalp associated with lamellar ichthyosis successfully treated with dehydrated human amnion/chorion membrane allograft.

JAAD Case Rep 2018 Nov 14;4(10):1059-1061. Epub 2018 Nov 14.

Department of Medicine, Division of Dermatology, University of Arizona, Tucson, Arizona.

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November 2018
1 Read

Xeroderma Pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.

Br J Pharmacol 2018 Nov 30. Epub 2018 Nov 30.

Ataxia Centre, Department of Molecular Neuroscience, University College London, Institute of Neurology London, WC1N 3BG, United Kingdom.

Xeroderma Pigmentosum (XP) encompasses a group of rare diseases characterised in most cases by nucleotide excision repair (NER) malfunction, resulting in an increased sensitivity to ultraviolet radiation in affected individuals. Approximately 25-30% of XP patients present with neurological symptoms, such as sensorineural deafness, mental deterioration, and ataxia. Although it is known that dysfunctional DNA repair is the primary pathogenesis in XP, growing evidence suggests that mitochondrial pathophysiology may also occur. Read More

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November 2018
2 Reads

De novo mutation in causes ichthyosis, , hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.

J Med Genet 2018 Nov 28. Epub 2018 Nov 28.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Background: Very long-chain fatty acids (VLCFAs) are essential for functioning of biological membranes. ELOVL fatty acid elongase 1 catalyses elongation of saturated and monounsaturated C22-C26-VLCFAs. We studied two patients with a dominant mutation. Read More

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November 2018

Perspective: Mutations in Recessive Congenital Ichthyoses Illuminate the Origin and Functions of the Corneocyte Lipid Envelope.

J Invest Dermatol 2018 Nov 21. Epub 2018 Nov 21.

Dermatology Service, VA Medical Center, San Francisco and Department of Dermatology, UC San Francisco, San Francisco, CA. Electronic address:

The corneocyte lipid envelope (CLE), a monolayer of ϖ-hydroxyceramides, whose function(s) remain(s) uncertain, is absent in autosomal recessive congenital ichthyoses (ARCI) with mutations in enzymes that regulate epidermal lipid synthesis. Secreted lipids fail to transform into lamellar membranes in certain ARCI epidermis, suggesting the CLE provides a scaffold for the extracellular lamellae. But since cornified envelopes (CEs) are attenuated in these ARCI, the CLE may also provide a scaffold for subjacent CE formation, evidenced by restoration of CEs after CLE 'rescue. Read More

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November 2018
4 Reads

RAD7 homologues contribute to Arabidopsis UV tolerance.

Plant Sci 2018 Dec 26;277:267-277. Epub 2018 Sep 26.

Department of Biological Sciences, University of Manitoba, Winnipeg, MB R3T 2N2, Canada. Electronic address:

Frequent exposure of plants to solar ultraviolet radiation (UV) results in damaged DNA. One mechanism of DNA repair is the light independent pathway Global Genomic Nucleotide Excision Repair (GG-NER), which repairs UV damaged DNA throughout the genome. In mammals, GG-NER DNA damage recognition is performed by the Damaged DNA Binding protein 1 and 2 (DDB1/2) complex which recruits the Xeroderma Pigmentosa group C (XPC) / RAD23D complex. Read More

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December 2018
3 Reads

[Sjögren-Larsson syndrome: Pediatric case report].

Arch Argent Pediatr 2018 Dec;116(6):e773-e777

Laboratorio de Bioquímica y Medicina Experimental, Centro Médico Nacional "20 de Noviembre", ISSSTE.

Sjogren-Larsson syndrome is characterized by congenital ichthyosis, mental retardation and spastic diplegia or quadriplegia. The primary defect in this syndrome is mutation of ALDH3A2 gen that codes for the fatty aldehyde dehydrogenase. Deficiency of this enzyme causes an accumulation of fatty alcohols and fatty aldehydes, leading to altered cell-membrane integrity. Read More

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December 2018
1 Read

Chanarin-Dorfman syndrome.

Turk J Gastroenterol 2018 Nov 16. Epub 2018 Nov 16.

Department of Medical Genetics, Marmara University School of Medicine, İstanbul, Turkey.

Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils, and was first described by Dorfman in 1974. Due to a mutation in the ABHD5 gene of the short arm of chromosome 3, lipid is stored in the granulocytes at various sites in the human body, such as the muscle, liver, eye, ear, central nervous system, and bone marrow. Clinically, the disease is presented with ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation. Read More

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November 2018
4 Reads

Filling gaps in translesion DNA synthesis in human cells.

Mutat Res 2018 Dec 23;836(Pt B):127-142. Epub 2018 Feb 23.

Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil. Electronic address:

During DNA replication, forks may encounter unrepaired lesions that hamper DNA synthesis. Cells have universal strategies to promote damage bypass allowing cells to survive. DNA damage tolerance can be performed upon template switch or by specialized DNA polymerases, known as translesion (TLS) polymerases. Read More

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December 2018
3 Reads

Sensor-Based Detection of the Severity of Hyperkeratosis in the Teats of Dairy Cows.

Sensors (Basel) 2018 Nov 14;18(11). Epub 2018 Nov 14.

Hochschule Neubrandenburg, Department of Agricultural Machinery, University of Applied Science, Brodaer Straße 2, 17033 Neubrandenburg, Germany.

The aim of this study was to evaluate whether the severity of hyperkeratosis (HK) in the teats of dairy cows can be assessed by a dielectric measurement. The study focused on surveying the occurrence of hyperkeratosis in a total of 241 teats of lactating dairy cows. A scoring system consisting of four categories was used to macroscopically assess the severity of HK. Read More

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November 2018
4 Reads

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.

Hum Mutat 2018 Nov 15. Epub 2018 Nov 15.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.

Ichthyosis follicularis, a distinct cutaneous entity reported in combination with atrichia, and photophobia has been associated with mutations in MBTPS2. We sought the genetic cause of a novel syndrome of ichthyosis follicularis, bilateral severe sensorineural hearing loss and punctate palmoplantar keratoderma in two families. We performed whole exome sequencing on three patients from two families. Read More

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November 2018
5 Reads
5.140 Impact Factor

[Tubular aggregate myopathy and Stormorken syndrome].

Med Sci (Paris) 2018 Nov 12;34 Hors série n°2:26-31. Epub 2018 Nov 12.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France - Centre National de la Recherche Scientifique (CNRS), UMR7104, Illkirch, France - Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, Illkirch, France - Université de Strasbourg, Illkirch, France.

Calcium (Ca) is an essential regulator for a large number of cellular functions in various tissues and organs, and small disturbances of Ca homeostasis can severely compromise normal physiology. Intracellular Ca balance is mainly controlled by the reticular Ca sensor STIM1 and the plasma membrane Ca channel ORAI1 through a mechanism known as store-operated Ca entry (SOCE). Gain-of-function mutations in STIM1 or ORAI1 cause excessive extracellular Ca influx, resulting in tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK). Read More

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November 2018
3 Reads

An Unusual Late Onset of Ichthyosis Hystrix.

Skinmed 2018 9;16(5):365-367. Epub 2018 Nov 9.

Department of Dermatology and Venereology.

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November 2018
1 Read

Bathing Suit Ichthyosis: A Peculiar Affliction of the Hands and Feet.

Skinmed 2018 9;16(5):330-331. Epub 2018 Nov 9.

New Delhi, India; and the Dermato-Venerology (Skin/VD) Center, Sehgal Nursing Home, A/6 Panchwati, New Delhi, India.

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November 2018
4 Reads

Silencing of Xeroderma Pigmentosum Group D Gene Promotes Hepatoma Cell Growth by Reducing P53 Expression.

Med Sci Monit 2018 Nov 9;24:8015-8021. Epub 2018 Nov 9.

Department of Electrocardiogram Diagnosis, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China (mainland).

BACKGROUND This study investigated the effect of xeroderma pigmentosum group D (XPD) silencing on the growth of hepatoma cells and assessed the mechanisms. MATERIAL AND METHODS XPD gene was silenced by siRNA in hepatoma cells. The experiments were randomly divided into a control group, a liposome control group, a negative control (NC) group, an XPD siRNA group, and an XPD siRNA + P53 inhibitor group. Read More

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November 2018
7 Reads

Xeroderma pigmentosum.

Ann Dermatol Venereol 2018 Nov 6;145(11):706-722. Epub 2018 Nov 6.

Service de dermatologie, Hôpital La Rabta, Tunis, Tunisie; Unité de recherche UR 12SP07, Hôpital La Rabta, Tunis, Tunisie. Electronic address:

Xeroderma pigmentosum (XP) is a form of general dermatosis characterised by photo-induced cutaneous-ocular impairment and by skin cancers. In addition to these signs, there may also be neurological involvement. This disease is related to a defect in genes within the nucleotide excision repair system for the first seven genetic groups (A-G), and to an abnormality in transcription groups for the eighth group (xeroderma pigmentosum variant - XPV). Read More

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November 2018
4 Reads

Acquired ichthyosis as a paraneoplastic feature of ALK-negative anaplastic large cell lymphoma.

Br J Haematol 2018 Nov 8. Epub 2018 Nov 8.

Department of Clinical Haematology, Sofiamed University Hospital, Sofia, Bulgaria.

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November 2018
1 Read

Targeting the DNA Repair Endonuclease ERCC1-XPF with Green Tea Polyphenol Epigallocatechin-3-Gallate (EGCG) and Its Prodrug to Enhance Cisplatin Efficacy in Human Cancer Cells.

Nutrients 2018 Nov 3;10(11). Epub 2018 Nov 3.

Department of Oncology, Karmanos Cancer Institute, Wayne State University, Detroit, MI 48201, USA.

The 5'-3' structure-specific endonuclease ERCC1/XPF (Excision Repair Cross-Complementation Group 1/Xeroderma Pigmentosum group F) plays critical roles in the repair of cisplatin-induced DNA damage. As such, it has been identified as a potential pharmacological target for enhancing clinical response to platinum-based chemotherapy. The goal of this study was to follow up on our previous identification of the compound NSC143099 as a potent inhibitor of ERCC1/XPF activity by performing an in silico screen to identify structural analogues that could inhibit ERCC1/XPF activity in vitro and in vivo. Read More

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November 2018
2 Reads

Rapidly Growing Conjunctival Squamous Cell Carcinoma Following Corneal Transplantation in a Patient with Xeroderma Pigmentosum.

Transplantation 2018 Nov 5. Epub 2018 Nov 5.

Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.

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November 2018
1 Read

Activography reveals aberrant proteolysis in desquamating diseases of differing backgrounds.

Exp Dermatol 2018 Nov 3. Epub 2018 Nov 3.

Department of Pharmacy, School of Health Sciences, University of Patras, Rion-Patras, 265 04, Greece.

The role of epidermal proteolysis in overdesquamation was revealed in Netherton syndrome, a rare ichthyosis due to genetic deficiency of the LEKTI inhibitor of serine proteases. Recently, we developed activography, a new histochemical method, to spatially localize and semi-quantitatively assess proteolytic activities using activity-based probes. Activography provides specificity and versatility compared to in situ zymography, the only available method to determine enzymatic activities in tissue biopsies. Read More

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November 2018

Topical urea in skincare: A review.

Authors:
Leonardo Celleno

Dermatol Ther 2018 Nov 30;31(6):e12690. Epub 2018 Oct 30.

Catholic University of Sacred Heart, Rome, Italy.

Alterations in barrier function are associated with a number of skin diseases, including xerosis, atopic dermatitis, and psoriasis. Urea, a component of the natural moisturizing factor of the skin, plays an important role in the preservation of skin hydration and integrity. Several studies have investigated the effects of urea in the clinical setting. Read More

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November 2018
8 Reads

Patients with Congenital Ichthyosis and TGM1 Mutations Overexpress Other ARCI Genes in the Skin: Part of a Barrier Repair Response?

Exp Dermatol 2018 Oct 29. Epub 2018 Oct 29.

Department of Medical Sciences, Dermatology and Venereology, Uppsala University, SE-751 85, Uppsala, Sweden.

Autosomal recessive congenital ichthyosis (ARCI) is a group of monogenic skin disorders caused by mutations in any of at least 12 different genes, many of which are involved in the epidermal synthesis of ω-O-acylceramides (acylCer). AcylCer are essential precursors of the corneocyte lipid envelope crosslinked by transglutaminase-1 (TGm-1), or a yet unidentified enzyme, for normal skin barrier formation. We hypothesized that inactivating TGM1 mutations will lead to a compensatory overexpression of the transcripts involved in skin barrier repair, including many other ARCI-causing genes. Read More

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October 2018
3 Reads

Genotype and phenotype variability in Sjögren-Larsson syndrome.

Hum Mutat 2018 Oct 29. Epub 2018 Oct 29.

Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

The Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). FALDH prevents the accumulation of toxic fatty aldehydes by converting them into fatty acids. Pathogenic ALDH3A2 variants cause symptoms such as ichthyosis, spasticity, intellectual disability, and a wide range of less common clinical features. Read More

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October 2018
7 Reads

Ocular Surface Stem Cell Transplantation for Treatment of Keratitis-Ichthyosis-Deafness Syndrome.

Cornea 2019 Jan;38(1):123-126

Department of Ophthalmology, Cincinnati Eye Institute, University of Cincinnati, Cincinnati, OH.

Purpose: To report our surgical experience with ocular surface stem cell transplantation (OSST) for limbal stem cell deficiency (LSCD) in the setting of keratitis-ichthyosis-deafness (KID) syndrome.

Methods: Retrospective interventional case series.

Results: We present 5 eyes of 3 patients with KID syndrome that developed LSCD and underwent OSST. Read More

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January 2019
10 Reads

Otological surgery in paediatric photosensitive patients.

Int J Pediatr Otorhinolaryngol 2018 Dec 15;115:175-176. Epub 2018 Sep 15.

Great Ormond Street Hospital, London, UK.

There are a wide range of genetic and auto-immune conditions where UV light exposure poses a threat of UV irradiation to the external auditory canal, tympanic membrane and surrounding skin. Preoperative Ultraviolet Light (UV) measurements were taken in the operating theatre with standard operating microscope and an approved UV light meter prior to surgery on a patient with xeroderma pigmentosa. UV light meter readings of UV index 75 were taken at an operating distance of 290mm. Read More

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December 2018
4 Reads

ATR/Chk1 Pathway is Activated by Oxidative Stress in Response to UVA Light in Human Xeroderma Pigmentosum Variant Cells.

Photochem Photobiol 2018 Oct 25. Epub 2018 Oct 25.

Department of Microbiology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil.

The crucial role of DNA polymerase eta in protecting against sunlight-induced tumors is evidenced in Xeroderma Pigmentosum Variant (XP-V) patients, who carry mutations in this protein and present increased frequency of skin cancer. XP-V cellular phenotypes may be aggravated if proteins of DNA damage response (DDR) pathway are blocked, as widely demonstrated by experiments with UVC light and caffeine. However, little is known about the participation of DDR in XP-V cells exposed to UVA light, the wavelengths patients are mostly exposed. Read More

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October 2018
3 Reads

ABHD5 stimulates PNPLA1-mediated ω--acylceramide biosynthesis essential for a functional skin permeability barrier.

J Lipid Res 2018 Dec 25;59(12):2360-2367. Epub 2018 Oct 25.

Institute of Molecular Biosciences, University of Graz, Graz, Austria

Mutations in the genes coding for patatin-like phospholipase domain-containing 1 (PNPLA1) and α/β-hydrolase domain-containing 5 (ABHD5), also known as comparative gene identification 58, are causative for ichthyosis, a severe skin barrier disorder. Individuals with mutations in either of these genes show a defect in epidermal ω--acylceramide (AcylCer) biosynthesis, suggesting that PNPLA1 and ABHD5 act in the same metabolic pathway. In this report, we identified ABHD5 as a coactivator of PNPLA1 that stimulates the esterification of ω-hydroxy ceramides with linoleic acid for AcylCer biosynthesis. Read More

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December 2018
1 Read
4.420 Impact Factor

A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report.

Eur J Med Genet 2018 Oct 22. Epub 2018 Oct 22.

Department of Neonatal Intensive Care, The Children's Memorial Health Institute, Poland.

Trichothiodystrophy (TTD) is a group of predominantly autosomal recessive disorders characterized by sulfur-deficient brittle hair. Clinical features of TTD consist of variable neuroectodermal symptoms including ichthyosis, nail abnormalities, mental retardation, short stature, decreased fertility and proneness to infections. Approximately half of the reported patients with TTD have clinical and cellular photosensitivity associated with mutations in three subunits (ERCC3, ERCC2, GTF2H5) of the basal transcription factor TFHII, which is involved in transcription and nucleotide excision repair. Read More

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October 2018
2 Reads

Differential corneal involvement in xeroderma pigmentosum.

Authors:
Sunita Chaurasia

Indian J Ophthalmol 2018 Nov;66(11):1623

Cornea and Anterior Segment Services, Tej Kohli Cornea Institute, L. V. Prasad Eye Institute, Hyderabad, Telangana, India.

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November 2018

Corneal edema in xeroderma pigmentosa.

Authors:
Sunita Chaurasia

Indian J Ophthalmol 2018 Nov;66(11):1622

Cornea and Anterior Segment Services, Tej Kohli Cornea Institute, L. V. Prasad Eye Institute, Hyderabad, Telangana, India.

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November 2018

Non-surgical management of congenital ichthyosis using hyaluronic acid gel injection.

Eur J Ophthalmol 2018 Oct 25:1120672118805622. Epub 2018 Oct 25.

Ophthalmic Plastic Surgery Service, LV Prasad Eye Institute, Hyderabad, India.

Aim:: To test if hyaluronic acid gel injection in the upper eyelid achieves correction of congenital cicatricial ectropion and reduction in lagophthalmos, in preparation for intraocular surgery.

Methods:: This case reports the long-term outcome of hyaluronic acid gel injection in the upper eyelid for the correction of ectropion prior to cataract surgery. One millilitre of hyaluronic acid gel was injected in both the upper eyelids of a child with congenital ichthyosis in the suborbicularis plane, prior to cataract surgery. Read More

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October 2018
10 Reads

Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome.

Endocrinol Diabetes Metab Case Rep 2017 Sep 28;2017. Epub 2017 Sep 28.

Endocrinology Department, Parc Taulí University Hospital, Sabadell, Barcelona, Spain.

Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Read More

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September 2017
6 Reads

Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency.

J Lipid Res 2018 Dec 22;59(12):2413-2420. Epub 2018 Oct 22.

Department of Dermatology Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan

Neu-Laxova syndrome (NLS) is a very rare autosomal recessive congenital disorder characterized by disturbed development of the central nervous system and the skin and caused by mutations in any of the three genes involved in de novo l-serine biosynthesis: , , and l-Serine is essential for the biosynthesis of phosphatidylserine and sphingolipids. The extracellular lipid of the stratum corneum, of which sphingolipid constitutes a significant part, plays a primary role in skin barrier function. Here, we describe a Japanese NLS pedigree with a previously unreported nonsense mutation in and a unique inversion of chromosome 1. Read More

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December 2018
2 Reads

Interaction of polymorphisms in xeroderma pigmentosum group C with cigarette smoking and pancreatic cancer risk.

Oncol Lett 2018 Nov 23;16(5):5631-5638. Epub 2018 Aug 23.

Xinjiang Research Institute of Cancer Prevention and Control, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830011, P.R. China.

The aim of the present study was to evaluate the association between xeroderma pigmentosum group C (XPC) polymorphisms and pancreatic cancer (PC) risk. A total of 7 XPC tagging SNPs (tag-SNPs) were selected from the International HapMap Project Databases (rs2228001A/C, rs2470353G/C, rs2228000C/T, rs3731114C/G, rs3729587G/C, rs2607775C/G and rs3731055G/A) and were genotyped in 205 patients with PC and 230 non-cancer control subjects using a SNaPshot assay. The C allelic gene frequency of rs2470353 was higher in patients with PC compared with that in the control group (P=0. Read More

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November 2018