1,141 results match your criteria Ichthyosis Lamellar


Response of short term high dose Vitamin D therapy in Lamellar Icthyosis- A rare case report.

Dermatol Ther 2020 Jun 29:e13927. Epub 2020 Jun 29.

Department of Dermatology, Venereology and Lepros, All India Institute of Medical Sciences-Rishikesh y.

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http://dx.doi.org/10.1111/dth.13927DOI Listing

Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.

J Biomol Struct Dyn 2020 Jun 29:1-11. Epub 2020 Jun 29.

Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.

Lamellar ichthyosis (LI) is a rare inherited disease where affected infants present a extensive skin scaling characterized by hyperkeratosis. Inherited mutations in the Transglutaminase 1 (TGM1) protein is one of the known causative genetic factor for the LI. The main objective of this study is to explore the impact of LI causative missense mutations on the structural and stability aspects of TGM1 protein using structural modeling, molecular docking and molecular dynamics approaches. Read More

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http://dx.doi.org/10.1080/07391102.2020.1782770DOI Listing

Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.

Am J Hum Genet 2020 Jul 8;107(1):158-163. Epub 2020 Jun 8.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, USA. Electronic address:

The discovery of genetic causes of inherited skin disorders has been pivotal to the understanding of epidermal differentiation, function, and renewal. Here we show via exome sequencing that mutations in ASPRV1 (aspartic peptidase retroviral-like 1) cause a dominant Mendelian disorder featuring palmoplantar keratoderma and lamellar ichthyosis, a phenotype that has otherwise been exclusively recessive. ASPRV1 encodes a mammalian-specific and stratified epithelia-specific protease important in processing of filaggrin, a critical component of the uppermost epidermal layer. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332602PMC
July 2020
10.931 Impact Factor

Transepidermal water loss in the orphan forms of ichthyosis.

Pediatr Dermatol 2020 Jun 8. Epub 2020 Jun 8.

Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

As a surrogate measure of skin barrier dysfunction, we sought to determine differences in transepidermal water loss (TEWL) among ichthyosis subtypes and correlate TEWL with clinical severity. Subjects with Netherton syndrome had the highest TEWL values (increased water loss), while TEWL values were lowest in subjects with epidermolytic ichthyosis. TEWL correlated with severity only in lamellar ichthyosis and age was inversely correlated with TEWL (r  = -. Read More

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http://dx.doi.org/10.1111/pde.14221DOI Listing
June 2020
1.520 Impact Factor

[Collodion baby: A case of lamellar ichthyosis].

An Pediatr (Barc) 2020 Mar 20. Epub 2020 Mar 20.

Servicio de Dermatología, Hospital Universitario de Cabueñes, Gijón, Asturias, España.

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http://dx.doi.org/10.1016/j.anpedi.2020.02.003DOI Listing

Ponatinib-induced lamellar ichthyosis-like eruption.

Int J Dermatol 2020 May 20;59(5):e156-e157. Epub 2020 Mar 20.

Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1111/ijd.14853DOI Listing
May 2020
1.227 Impact Factor

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

PLoS One 2020 18;15(2):e0229025. Epub 2020 Feb 18.

Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.

Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish individuals) we performed a mutational analysis using direct Sanger sequencing in combination with a multigene targeted NGS panel. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0229025PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028276PMC

Hyperkeratotic Skin Adverse Events Induced by Anticancer Treatments: A Comprehensive Review.

Drug Saf 2020 May;43(5):395-408

Oncodermatology, Institut Claudius REGAUD and Institut Universitaire du Cancer Toulouse Oncopole, 1 avenue Irène Joliot-Curie 31059, Toulouse Cedex 9, France.

Hyperkeratotic skin adverse events are a group of toxic effects, characterized by the disruption of epidermal homeostasis and interaction with keratinocyte proliferation/differentiation or keratinocyte survival, and frequently reported with systemic anticancer treatments. These types of reactions include hand-foot skin reaction or palmoplantar keratoderma, induced psoriasis, keratosis pilaris-like or pityriasis rubra pilaris-like rashes, Grover's disease, and contact hyperkeratosis. Cutaneous squamoproliferative lesions are also described because of the presence of abnormal keratinocyte proliferation. Read More

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http://dx.doi.org/10.1007/s40264-020-00907-6DOI Listing

Dysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster.

PLoS Genet 2020 01 13;16(1):e1008363. Epub 2020 Jan 13.

Section Animal Genetics, Interfaculty Institute of Cell Biology, University of Tübingen, Tübingen, Germany.

Prevention of desiccation is a constant challenge for terrestrial organisms. Land insects have an extracellular coat, the cuticle, that plays a major role in protection against exaggerated water loss. Here, we report that the ABC transporter Oskyddad (Osy)-a human ABCA12 paralog-contributes to the waterproof barrier function of the cuticle in the fruit fly Drosophila melanogaster. Read More

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http://dx.doi.org/10.1371/journal.pgen.1008363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6980720PMC
January 2020

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.

Lipids Health Dis 2019 Dec 28;18(1):232. Epub 2019 Dec 28.

Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, pz Buonarroti 30, 20145, Milan, Italy.

Background: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Read More

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http://dx.doi.org/10.1186/s12944-019-1181-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935165PMC
December 2019

[Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Dec;36(12):1195-1198

Department of Genetics, Shenyang Women and Children's Hospital, Shenyang, Liaoning 110010, China.

Objective: To carry out variant analysis for a fetus suspected with harlequin ichthyosis (HI).

Methods: Whole exome sequencing (WES) was employed to detect potential variant in the fetus. Suspected variant was validated by Sanger sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.12.011DOI Listing
December 2019

Nursing care for a newborn with Lamellar Ichthyosis: a case study in a neonatal unit.

Rev Esc Enferm USP 2019 2;53:e03519. Epub 2019 Dec 2.

Hospital Infantil Waldemar Monastier, Campo Largo, PR, Brasil.

Objective: To present the nursing care of a newborn with Lamellar Ichthyosis admitted to the neonatal intensive care unit of a public children's hospital in a municipality in the state of Paraná, Brazil.

Method: A qualitative intralocal study implementing the Case Study methodology, in which a real case was explored in a delimited system with data collection from multiple sources of information during 66 days of hospitalization in 2016.

Results: The nursing care present in the protocol was based on: maintaining skin integrity through hydration and continuous lubrication with emollients, temperature control, nutrition and prevention of secondary infections. Read More

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http://dx.doi.org/10.1590/S1980-220X2018031603519DOI Listing

Increased melanocytic nevi and lentigines in two patients with harlequin ichthyosis.

Pediatr Dermatol 2020 Jan 25;37(1):192-195. Epub 2019 Nov 25.

Division of Dermatology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

An increased number of melanocytic nevi and lentigines have been reported in patients with two types of autosomal recessive congenital ichthyosis (ARCI): lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. These melanocytic lesions may have clinical and dermoscopic features of atypia, necessitating close surveillance. Here, we report two interesting cases of pediatric patients with harlequin ichthyosis (HI) who developed increased melanocytic nevi and lentigines. Read More

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http://dx.doi.org/10.1111/pde.14066DOI Listing
January 2020

Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.

Pediatr Dermatol 2020 Jan 20;37(1):165-170. Epub 2019 Oct 20.

Departments of Dermatology, Indiana University School of Medicine, Indianapolis, IN, USA.

Bathing suit ichthyosis (BSI) is a subtype of autosomal recessive congenital ichthyosis (ARCI) characterized by the development of large platelike scales mainly limited to the trunk. It is caused by temperature sensitive variants in transglutaminase 1, encoded by the gene TGM1. We describe a rare case of intrafamilial variation in phenotypic expressivity in two Burmese siblings with BSI that demonstrates the heterogeneity of the disorder within the same family and even in the same individual across time. Read More

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http://dx.doi.org/10.1111/pde.14030DOI Listing
January 2020
1 Read

An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis.

Anim Genet 2019 Dec 30;50(6):749-752. Epub 2019 Sep 30.

Faculty of Science, Sydney School of Veterinary Science, University of Sydney, Camden, 2570, NSW, Australia.

Two clinical forms of ichthyosis in cattle have been reported, ichthyosis fetalis and congenital ichthyosis. Ichthyosis poses animal welfare and economic issues and the more severe form, ichthyosis fetalis, is lethal. A Shorthorn calf with ichthyosis fetalis was investigated and a likely causal missense variant on chromosome 2 in the ABCA12 gene (NM_001191294. Read More

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http://dx.doi.org/10.1111/age.12856DOI Listing
December 2019
1 Read

Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.

Pediatr Dermatol 2019 Nov 18;36(6):1002-1003. Epub 2019 Sep 18.

Department of Dermatology, Perth Children's Hospital, Perth, Australia.

Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogenous group of scaling skin disorders. We describe a patient with ARCI caused by homozygous variants in NIPAL4, in whom the dermatologic phenotype and an associated arthropathy, markedly improved with ustekinumab. Read More

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http://dx.doi.org/10.1111/pde.13995DOI Listing
November 2019
1 Read

Fatty acid transport protein 4 is required for incorporation of saturated ultralong-chain fatty acids into epidermal ceramides and monoacylglycerols.

Sci Rep 2019 09 13;9(1):13254. Epub 2019 Sep 13.

Division of Nephrology, Washington University School of Medicine, 4523 Clayton Ave., St. Louis, MO, 63110, United States.

Fatty acid transport protein 4 (FATP4) is an acyl-CoA synthetase that is required for normal permeability barrier in mammalian skin. FATP4 (SLC27A4) mutations cause ichthyosis prematurity syndrome, a nonlethal disorder. In contrast, Fatp4 mice die neonatally from a defective barrier. Read More

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http://dx.doi.org/10.1038/s41598-019-49684-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744566PMC
September 2019
5.078 Impact Factor

Molecular Functionality of Cytochrome P450 4 (CYP4) Genetic Polymorphisms and Their Clinical Implications.

Int J Mol Sci 2019 Aug 31;20(17). Epub 2019 Aug 31.

Department of Pharmacology and Pharmacogenomics Research Center, Inje University College of Medicine, Inje University, Busan 47392, Korea.

Enzymes in the cytochrome P450 4 (CYP4) family are involved in the metabolism of fatty acids, xenobiotics, therapeutic drugs, and signaling molecules, including eicosanoids, leukotrienes, and prostanoids. As CYP4 enzymes play a role in the maintenance of fatty acids and fatty-acid-derived bioactive molecules within a normal range, they have been implicated in various biological functions, including inflammation, skin barrier, eye function, cardiovascular health, and cancer. Numerous studies have indicated that genetic variants of genes cause inter-individual variations in metabolism and disease susceptibility. Read More

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http://dx.doi.org/10.3390/ijms20174274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747359PMC
August 2019
1 Read

Case Report: Corneal Ulceration from Bilateral Ectropion Due to Congenital Ichthyosis.

Optom Vis Sci 2019 09;96(9):706-709

Nova Southeastern University, Fort Lauderdale, Florida.

Significance: Ichthyosis is a group of heterogenous inherited skin disorders characterized by abnormal cornification and keratinization of the skin. Autosomal recessive congenital ichthyosis presents with severe lagophthalmos and cicatricial ectropion of both upper and lower lids. Chronic corneal exposure from lid abnormalities may lead to ulcerative keratitis or corneal perforation. Read More

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http://Insights.ovid.com/crossref?an=00006324-201909000-0001
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http://dx.doi.org/10.1097/OPX.0000000000001415DOI Listing
September 2019
4 Reads

Recognition and management of congenital ichthyosis in a low-income setting.

BMJ Case Rep 2019 Aug 20;12(8). Epub 2019 Aug 20.

Paediatric Dermatology, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK.

We report the case of a 3-week old girl in The Gambia who presented to hospital with an undiagnosed skin disorder evolving since birth. Using telemedicine to seek specialist dermatology advice abroad, she was diagnosed with and managed for suspected congenital lamellar ichthyosis. Poor early recognition and limited resources, for both acute and chronic care, created significant challenges to optimal management; these were overcome, in part, by adopting a common sense, back-to-basics approach to treatment and by empowering the parents to take ownership of their infant's daily skin and eye care. Read More

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http://dx.doi.org/10.1136/bcr-2018-228313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706671PMC
August 2019
1 Read

The Potential Uses of N-acetylcysteine in Dermatology: A Review.

J Clin Aesthet Dermatol 2019 May 1;12(5):20-26. Epub 2019 May 1.

Drs. May, Reservo, Tung, and Swan are with the Department of Dermatology at the Stritch School of Medicine at Loyola University Chicago in May wood, Illinois. Mses. Janeczek, Riopelle, and Vetter are with the Stritch School of Medicine at Loyola University Chicago in May wood, Illinois.

In recent studies, N-acetylcysteine has been shown to be efficacious in several dermatologic conditions. The aim was to review clinical trials that assess the efficacy of N-acetylcysteine in cutaneous disorders. The PubMed database was searched and a manual search of clinical trials in the references was performed. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6561714PMC
May 2019
12 Reads

Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.

Br J Dermatol 2020 01 28;182(1):208-211. Epub 2019 Jul 28.

Department of Dermatology, Maastricht University Medical Center, Maastricht, the Netherlands.

We report the unique case of a 3-year-old girl who presented with linear erythematosquamous lesions following the lines of Blaschko, suggestive of genetic mosaicism in the skin. Single-candidate gene analyses were performed on DNA from blood, excluding Conradi-Hünermann-Happle syndrome, erythrokeratodermia variabilis and a mosaic presentation of pityriasis rubra pilaris. With whole-exome sequencing (WES) on DNA from the patient's blood, a heterozygous missense mutation in exon 25 of the ABCA12 gene was detected. Read More

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http://dx.doi.org/10.1111/bjd.18216DOI Listing
January 2020
8 Reads

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.

Acta Derm Venereol 2019 Sep;99(10):894-898

Molecular Medicine, Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.

Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is one of the 12 related genes identified so far. Mutation screening of this gene has resulted in the identification of 13 individuals, from 10 families, who carried 7 different PNPLA1 mutations. Read More

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http://dx.doi.org/10.2340/00015555-3227DOI Listing
September 2019
19 Reads

Molecular Genetic Study of a Large Inbred Pakistani Family Affected with Autosomal Recessive Congenital Ichthyosis Through Whole Exome Sequencing.

Genet Test Mol Biomarkers 2019 Jun 13;23(6):428-432. Epub 2019 May 13.

Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-i-Azam University, Islamabad, Pakistan.

Autosomal recessive congenital ichthyoses (ARCI) are a group of rare nonsyndromic genodermatoses characterized by generalized scaly appearance of the epidermis with markedly impaired cutaneous barriers owing to defects in keratinization related genes. In this study, we ascertained a consanguineous Pakistani family affected with ARCI. To investigate genetic defect underlying disease phenotype in the affected family. Read More

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http://dx.doi.org/10.1089/gtmb.2018.0310DOI Listing
June 2019
7 Reads

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.

Sci Rep 2019 05 9;9(1):7175. Epub 2019 May 9.

Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.

An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabí. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). Read More

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http://dx.doi.org/10.1038/s41598-019-43133-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509209PMC
May 2019
3 Reads

A novel pig model capturing clinical symptoms of harlequin ichthyosis.

Authors:
Kiho Lee

J Mol Cell Biol 2019 12;11(12):1027-1028

Department of Animal and Poultry Sciences, Virginia Tech, Blacksburg, VA 24061, USA.

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http://dx.doi.org/10.1093/jmcb/mjz034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934147PMC
December 2019
6 Reads

A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.

Int J Dermatol 2019 Dec 25;58(12):1439-1443. Epub 2019 Apr 25.

Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), University of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.

Background: Co-occurrence of two genetic diseases is challenging for accurate diagnosis and genetic counseling. The recent availability of whole exome sequencing (WES) has dramatically improved the molecular diagnosis of rare genetic diseases in particular in consanguineous populations.

Methods: We report here on a consanguineous family from Southern Tunisia including three members affected with congenital ichthyosis. Read More

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http://dx.doi.org/10.1111/ijd.14452DOI Listing
December 2019
8 Reads
1.227 Impact Factor

Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

J Dtsch Dermatol Ges 2019 Jul 23;17(7):742-745. Epub 2019 Apr 23.

Department of Dermatology, Venerology and Allergology, Medical University of Innsbruck, Austria.

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http://dx.doi.org/10.1111/ddg.13843DOI Listing

Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM1 gene.

Int J Dermatol 2019 Jul 10;58(7):e135-e137. Epub 2019 Apr 10.

Department of Dermatology, Habib Thameur Hospital, Research Unit "Genodermatoses and cancers LR12SP03", Tunis, Tunisia.

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http://dx.doi.org/10.1111/ijd.14453DOI Listing
July 2019
6 Reads

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Mol Genet Genomic Med 2019 05 27;7(5):e608. Epub 2019 Mar 27.

Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.

Background: Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI genes are associated with LI and CIE phenotypes, the unique gene associated with HI is ABCA12. In HI, the most severe ARCI form, pathogenic variants in both ABCA12 gene alleles usually have a severe impact on protein function. Read More

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http://dx.doi.org/10.1002/mgg3.608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503032PMC
May 2019
7 Reads

Long and very long lamellar phases in model stratum corneum lipid membranes.

J Lipid Res 2019 05 18;60(5):963-971. Epub 2019 Mar 18.

Skin Barrier Research Group, Faculty of Pharmacy in Hradec Králové, Charles University, 500 05 Hradec Králové, Czech Republic.

Membrane models of the stratum corneum (SC) lipid barrier, either healthy or affected by recessive X-linked ichthyosis, constructed from ceramide [Cer; nonhydroxyacyl sphingosine -tetracosanoyl-d--sphingosine (CerNS24) alone or with omega-acylceramide -(32-linoleyloxy)dotriacontanoyl-d--sphingosine (CerEOS)], FFAs(C16-24), cholesterol (Chol), and sodium cholesteryl sulfate (CholS) were investigated. X-ray diffraction (XRD) revealed a previously unreported polymorphism of the membranes. In the absence of CerEOS, the membranes formed a short lamellar phase (SLP; the repeat distance = 5. Read More

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http://www.jlr.org/lookup/doi/10.1194/jlr.M090977
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http://dx.doi.org/10.1194/jlr.M090977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6495169PMC
May 2019
5 Reads

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation.

Front Pediatr 2019 21;7:44. Epub 2019 Feb 21.

Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Lamellar ichthyosis is an autosomal recessive type of rare skin disorders characterized with defective epidermis leading hyperkeratosis with brownish-gray scales over the body. These patients are born as collodion babies and may also exhibit additional features like erythema, ectropion, and eclabium. This disease is mainly caused by homozygous and compound heterozygous alterations in transglutaminase 1 encoding gene (), which is located on 14q12. Read More

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http://dx.doi.org/10.3389/fped.2019.00044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393366PMC
February 2019
5 Reads

Congenital ichthyoses: there is always more to learn about managing these rare and complex diseases.

Authors:
M Akiyama

Br J Dermatol 2019 03;180(3):449-450

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-8550, Japan.

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http://dx.doi.org/10.1111/bjd.17105DOI Listing

ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids.

Pediatr Dermatol 2019 May 27;36(3):339-341. Epub 2019 Feb 27.

Department of Neonatal-Perinatal, Children's Hospital of Michigan, Neonatal-Perinatal Medicine, Detroit, Michigan.

Harlequin ichthyosis (HI) is associated with high mortality. Early systemic retinoids are widely used, although their use remains debatable. We reported two neonates with homozygous mutations in ABCA12 consistent with harlequin ichthyosis who survived to discharge home with intensive care and without use of systemic retinoids. Read More

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http://doi.wiley.com/10.1111/pde.13770
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http://dx.doi.org/10.1111/pde.13770DOI Listing
May 2019
14 Reads

LEKTI domains D6, D7 and D8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome.

Br J Dermatol 2019 11 6;181(5):999-1008. Epub 2019 Jun 6.

Department of Dermatology, University Hospital Muenster, Von-Esmarch-Straße 58, 48149, Muenster, Germany.

Background: Transglutaminase (TG)1 plays a key role in the formation of the cornified envelope and thus in the maintenance of the epidermal barrier. Patients with Netherton syndrome (LEKTI deficiency) have increased activity of both TG1 and serin proteases.

Objectives: To determine whether there is a functional biochemical link between TG1 and LEKTI and whether LEKTI domains could possibly serve as substrates for TG1. Read More

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http://dx.doi.org/10.1111/bjd.17820DOI Listing
November 2019

Lichenoid folliculitis of the scalp in four patients with ichthyosiform skin disorders and cicatricial alopecia.

J Cutan Pathol 2019 Jun 3;46(6):431-435. Epub 2019 Apr 3.

Department of Dermatology, Federal Fluminense University, Antonio Pedro University Hospital, Niterói, Brazil.

Ichthyosis is a heterogeneous group of inherited skin disorders characterized by a defect of keratinization. Patients diagnosed with lamellar ichthyosis (LI) and some ichthyosiform syndromes, such as the Conradi-Hünermann-Happle syndrome (CHHS), usually present with hair loss. Even though only few dermatologic complaints carry as many emotional overtones as hair loss, there are very few data available in the literature regarding scalp histopathological features in ichthyosis. Read More

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http://dx.doi.org/10.1111/cup.13439DOI Listing
June 2019
12 Reads

Consensus, collaboration and care coordination.

Authors:
M L Levy

Br J Dermatol 2019 02;180(2):253

Dell Medical School, University of Texas at Austin, Dell Children's Medical Center, Austin, TX, U.S.A.

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http://dx.doi.org/10.1111/bjd.17439DOI Listing
February 2019

Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients.

J Dermatol Sci 2019 Jan 4;93(1):50-57. Epub 2018 Dec 4.

Department of Medical Biology, Hacettepe University, Ankara 06100, Turkey. Electronic address:

Background: Autosomal Recessive Congenital Ichthyosis (ARCI) is a group of epidermal keratinization disorders. One of the disease-associated proteins, patatin-like phospholipase domain-containing protein-1 (PNPLA1), plays a key role in the epidermal omega-O-acylceramide synthesis and localizes on the surface of lipid droplets (LDs).

Objective: Previously, routine clinical test results showed abnormal LD accumulation in blood smear samples of our ARCI patients with PNPLA1 mutations. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09231811183042
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http://dx.doi.org/10.1016/j.jdermsci.2018.11.013DOI Listing
January 2019
31 Reads

Non-invasive analysis of skin mechanical properties in patients with lamellar ichthyosis.

Skin Res Technol 2019 May 2;25(3):375-381. Epub 2019 Jan 2.

Facultad de Medicina, Universidad Veracruzana, Ciudad Mendoza, México.

Background: Reliable methods for the quantitative evaluation of skin of patients with ichthyosis are critically needed. Our purpose was to evaluate the biomechanical parameters of skin in a cohort of patients with clinically diagnosed lamellar ichthyosis.

Materials And Methods: Twenty-two patients diagnosed with lamellar ichthyosis were studied. Read More

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http://doi.wiley.com/10.1111/srt.12663
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http://dx.doi.org/10.1111/srt.12663DOI Listing
May 2019
12 Reads

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.

Mol Genet Genomic Med 2019 03 1;7(3):e539. Epub 2019 Jan 1.

Department of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, UK.

Background: Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified, but a clear correlation between genetic causes and clinical picture has not been described to date.

Methods: Our study included 19 families from Saudi Arabia, Yemen, and Pakistan. Read More

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http://doi.wiley.com/10.1002/mgg3.539
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http://dx.doi.org/10.1002/mgg3.539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418373PMC
March 2019
6 Reads

Transglutaminase diseases: from biochemistry to the bedside.

FASEB J 2019 01;33(1):3-12

Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.

In humans, 9 members of the transglutaminase (TG) family have been identified, of which 8 [factor XIII (FXIII)A and TG1-TG7] catalyze post-translational protein-modifying reactions, and 1 does not (protein 4.2). The TG enzymatic activities considered in our discussion of human disease include deamidation of glutamine (Gln) residues, amine incorporation into Gln residues, and protein crosslinking. Read More

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http://dx.doi.org/10.1096/fj.201801544RDOI Listing
January 2019
29 Reads

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.

Hum Mutat 2019 03 16;40(3):288-298. Epub 2019 Jan 16.

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

Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of non-syndromic Mendelian disorders of keratinization, is caused by mutations in as many as 13 distinct genes. We examined a cohort of 125 consanguineous families with ARCI for underlying genetic mutations. The patients' DNA was analyzed with a gene-targeted next generation sequencing panel comprising 38 ichthyosis associated genes. Read More

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http://dx.doi.org/10.1002/humu.23695DOI Listing
March 2019
11 Reads
5.144 Impact Factor

Prenatal sonographic diagnosis of Harlequin ichthyosis.

J Clin Ultrasound 2019 May 3;47(4):228-231. 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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http://dx.doi.org/10.1002/jcu.22675DOI Listing
May 2019
5 Reads

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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http://dx.doi.org/10.1016/j.jdcr.2018.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250890PMC
November 2018
5 Reads

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

J Invest Dermatol 2019 04 22;139(4):760-768. Epub 2018 Nov 22.

Dermatology Service, Veterans Affairs Medical Center, San Francisco, California, USA; Department of Dermatology, University of California-San Francisco, San Francisco, California, USA. Electronic address:

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

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http://dx.doi.org/10.1016/j.jid.2018.11.005DOI Listing
April 2019
28 Reads

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

Skinmed 2018;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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October 2019
21 Reads

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

Eur J Ophthalmol 2020 Jan 25;30(1):NP7-NP10. 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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http://dx.doi.org/10.1177/1120672118805622DOI Listing
January 2020
34 Reads