297 results match your criteria Ichthyosis Harlequin


3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.

J Clin Invest 2020 Jun 16. Epub 2020 Jun 16.

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, London, United Kingdom.

The biology of harlequin ichthyosis (HI), a devastating skin disorder, caused by loss of function mutations in the gene ABCA12, is poorly understood and to date no satisfactory treatment has been developed. We sought to investigate pathomechanisms of HI which could lead to the identification of new treatments to improve patients' quality of life. In this study, RNA-Seq and functional assays were performed to define the effects of loss of ABCA12, using HI patient skin samples and an engineered CRISPR-Cas9 ABCA12 KO cell line. Read More

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http://dx.doi.org/10.1172/JCI132987DOI Listing

Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review.

Ital J Pediatr 2020 Apr 15;46(1):44. Epub 2020 Apr 15.

Pediatric Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Background: Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with severe morbidity and potentially lethal in early life. At birth, patients present thick and plaque-like scales all over the body, with consequent cutaneous and extra-cutaneous complications, such as poor thermoregulation, recurrent infections, pain, electrolytes imbalance and joint contractures. Juvenile Idiopathic Arthritis usually manifests before the age of 16 years and persists for more than 6 weeks. Read More

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http://dx.doi.org/10.1186/s13052-020-0817-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158043PMC

Dysregulation of LXR responsive genes contribute to ichthyosis in trichothiodystrophy.

J Dermatol Sci 2020 Mar 24;97(3):201-207. Epub 2020 Jan 24.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université de Strasbourg, Strasbourg, France. Electronic address:

Background: Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterised by brittle hairs and various systemic symptoms, including photosensitivity and ichthyosis. While photosensitivity could result from DNA repair defects, other TTD clinical features might be due to deficiencies in certain molecular processes.

Objectives: The aim of this study was to understand the pathophysiological mechanism of ichthyosis in TTD, focused on the transcriptional dysregulation. Read More

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http://dx.doi.org/10.1016/j.jdermsci.2020.01.012DOI Listing

Prenatal diagnosis of harlequin ichthyosis: a case report.

Obstet Gynecol Sci 2020 Jan 9;63(1):94-97. Epub 2019 Dec 9.

Sravya Diagnostics, Hyderabad, India.

Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body. This disease is caused by mutations in the adenosine triphosphate-binding cassette transporter protein A12 gene, and the pattern of inheritance is autosomal recessive. Prenatal sonographic diagnosis of HI has not been frequently reported. Read More

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http://dx.doi.org/10.5468/ogs.2020.63.1.94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962590PMC
January 2020

Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI.

Indian J Radiol Imaging 2019 Oct-Dec;29(4):448-451. Epub 2019 Dec 31.

Department of Fetal Medicine, Indraprasth Apollo Hospital, Sarita Vihar, New Delhi, India.

Most of the fetal deformities are caused due to genetic abnormalities. Although magnetic resonance imaging (MRI) may be used to accurately diagnose these deformities, it has been reported that gene analysis is a more accurate diagnostic method. Harlequin ichthyosis (HI) or Ichthyosis fetalis (IF) is a rare and extremely severe hereditary skin disorder with autosomal recessive inheritance. Read More

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http://dx.doi.org/10.4103/ijri.IJRI_105_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958889PMC
December 2019

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

Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome.

Eur J Dermatol 2019 Dec;29(6):641-646

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai 200092, China.

Background: Neu-Laxova syndrome (NLS) is a rare hereditary disorder featuring intrauterine growth retardation, remarkable oedema with skin restriction, limb contracture, ichthyosis, and craniofacial anomaly. NLS shares multiple overlapping characteristics with several other inheritable refractory diseases: for example, harlequin foetus and restrictive dermopathy. To date, many NLS patients have been described, although the number of NLS cases with clear genetic aetiology remains limited. Read More

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http://dx.doi.org/10.1684/ejd.2019.3673DOI Listing
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

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

Management of ocular manifestations of autosomal recessive congenital ichthyosis 4B, harlequin type, in the perinatal period.

J AAPOS 2019 12 3;23(6):352-354. Epub 2019 Oct 3.

Department of Ophthalmology, Northwell Health, Great Neck, New York.

Autosomal recessive congenital ichthyosis (ARCI4B [OMIM #242500]), also known as harlequin ichthyosis, presents at birth with extreme hyperkeratosis and thick-fissured plaques, leading to tightness of the skin around the eyes, mouth, ears, chest, abdomen, and extremities. Ocular manifestations include cicatricial ectropion and exposure keratitis. We present 2 infants with ARCI4B and cicatricial ectropion who were managed with aggressive nonsurgical therapy. Read More

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http://dx.doi.org/10.1016/j.jaapos.2019.08.274DOI Listing
December 2019

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

Harlequin fetus born from Consanguinity: A deleterious case report.

Pak J Med Sci 2019 Sep-Oct;35(5):1472-1474

Zil-e-Rubab, MBBS, M-Phil, PhD, Ziauddin Medical College, Ziauddin University, Karachi, Pakistan.

Harlequin Ichthyosis (HI) is a dreadful skin disorder with steady rise of cases with prolonged survival. Harlequin fetus follows an autosomal recessive pattern with the incidence of 1in 300,000 live births. In the succeeding case report, a male child was born with keratinized and kaleidoscopic diamond pattern of skin suggestive of HI. Read More

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http://dx.doi.org/10.12669/pjms.35.5.916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6717440PMC
September 2019
2 Reads

Surgical Management of Harlequin Ichthyosis.

Plast Reconstr Surg Glob Open 2019 May 21;7(5):e2161. Epub 2019 May 21.

Division of Plastic and Reconstructive Surgery, New York Medical College, Valhalla, New York City, N.Y.

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http://dx.doi.org/10.1097/GOX.0000000000002161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571329PMC
May 2019
5 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

Harlequin Ichthyosis: A Rare Case of Congenital Ichthyosis.

J Obstet Gynaecol India 2019 Jun 7;69(3):292-293. Epub 2019 Mar 7.

Department of Obstetrics and Gynecology, Kasturba Hospital, Delhi University, Delhi, 110002 India.

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http://dx.doi.org/10.1007/s13224-019-01207-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531501PMC
June 2019
15 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

Inherited ichthyoses: molecular causes of the disease in Czech patients.

Orphanet J Rare Dis 2019 05 2;14(1):92. Epub 2019 May 2.

Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University, Jihlavská 20, 625 00, Brno, Czech Republic.

Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatologic and extracutaneous involvement, and by inheritance. We present the genetic analysis results of probands with X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis, and a patient with Netherton syndrome. Genetic diagnostics was complemented by in silico missense variant analysis based on 3D protein structures and commonly used prediction programs to compare the yields of these two approaches to each other. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1076-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498588PMC
May 2019
26 Reads

Congenital heart disease in harlequin ichthyosis: Case series.

J Family Med Prim Care 2019 Mar;8(3):1266-1268

Department of Cardiology, Ujala Hospital, Kashipur, Uttarakhand, India.

Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis and inherited in an autosomal recessive manner. The disease is marked by severe thickened and scaly skin on the entire body. It is a lethal disease, but patients can rarely survive for several months or years with treatment. Read More

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http://www.jfmpc.com/text.asp?2019/8/3/1266/254918
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http://dx.doi.org/10.4103/jfmpc.jfmpc_61_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482787PMC
March 2019
33 Reads

A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment.

J Mol Cell Biol 2019 12;11(12):1029-1041

State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.

Harlequin ichthyosis (HI) is a severe genetic skin disorder and caused by mutation in the ATP-binding cassette A12 (ABCA12) gene. The retinoid administration has dramatically improved long-term survival of HI, but improvements are still needed. However, the ABCA12 null mice failed to respond to retinoid treatment, which impedes the development of novel cure strategies for HI. Read More

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http://dx.doi.org/10.1093/jmcb/mjz021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934153PMC
December 2019
19 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

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

Two successive cases of fetal harlequin ichthyosis: A case report.

Exp Ther Med 2019 Jan 2;17(1):449-452. Epub 2018 Nov 2.

Guangzhou Huayin Medical Laboratory Center, Co., Ltd., Guangzhou, Guangdong 510663, P.R. China.

Harlequin ichthyosis (HI) is a genetic skin disorder characterized by thickening and splitting of the skin. In fetuses presenting with the disorder, the mortality rate is markedly high. A number of fetal HI cases have been documented. Read More

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http://www.spandidos-publications.com/10.3892/etm.2018.6917
Publisher Site
http://dx.doi.org/10.3892/etm.2018.6917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307384PMC
January 2019
38 Reads

Ichthyosis Congenita, Harlequin Type: A Fatal Case Report.

Cureus 2018 Oct 30;10(10):e3524. Epub 2018 Oct 30.

Internal Medicine, Jinnah Sindh Medical University, Karachi, PAK.

Harlequin baby is rare and it is the most severe kind of congenital ichthyosis. It manifests as severely keratinized skin with an autosomal recessive inheritance. Incidence of this disease is 1 in 300,000 live births. Read More

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https://www.cureus.com/articles/15438-ichthyosis-congenita-h
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http://dx.doi.org/10.7759/cureus.3524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318104PMC
October 2018
24 Reads

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

Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan.

J Am Acad Dermatol 2019 Nov 26;81(5):1086-1092.e1. Epub 2018 Sep 26.

Department of Dermatology and Allergology, Juntendo University Graduate School of Medicine, Tokyo, Japan.

Background: Autosomal recessive congenital ichthyosis (ARCI) and ichthyosis syndrome (IS) are rare genetic skin disorders.

Objective: To estimate the number of patients with ARCI and IS in Japan and clarify the clinicoepidemiologic features of these diseases.

Methods: We performed a nationwide survey of patients treated for ARCI or IS during January 2005-December 2009. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01909622183236
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http://dx.doi.org/10.1016/j.jaad.2018.07.056DOI Listing
November 2019
28 Reads

Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup.

J Dermatol Sci 2018 Nov 11;92(2):127-133. Epub 2018 Sep 11.

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8560, Japan. Electronic address:

Background: Congenital ichthyoses (CIs) adversely affect quality of life (QOL) in patients. However, the effects of CIs on patient QOL have not been studied sufficiently.

Objective: To investigate the association between disease severity and QOL in patients with harlequin ichthyosis (HI) and ichthyosis: syndromic forms (ISFs) METHODS: Clinical information of patients with HI and ISFs from 2010 to 2015 were obtained from 100 dermatology departments/divisions of principal institutes/hospitals throughout Japan. Read More

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http://dx.doi.org/10.1016/j.jdermsci.2018.08.008DOI Listing
November 2018
33 Reads

[Harlequin ichthyosis with a diaphragmatic hernia and a new mutation].

Ugeskr Laeger 2018 Sep;180(36)

Harlequin ichthyosis (HI) is a rare and severe form of the autosomal recessive congenital ichthyosis. This is a case report of a 30-year-old healthy woman with a pregnancy resulting in preterm birth of a child with severe HI, who did not survive. At the autopsy, the child was found with HI and a diaphragmatic hernia of the Bochdalek type. Read More

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September 2018
50 Reads

An atypical presentation of herpes simplex virus infection in Harlequin ichthyosis.

Pediatr Dermatol 2018 Nov 31;35(6):e400-e401. Epub 2018 Aug 31.

Division of Dermatology, University of Washington, Seattle, Washington, USA.

We present an atypical presentation of herpes simplex virus infection in a patient with Harlequin ichthyosis, which we attribute to abnormal cornification. Read More

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http://dx.doi.org/10.1111/pde.13627DOI Listing
November 2018
9 Reads

Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family.

Taiwan J Obstet Gynecol 2018 Jun;57(3):452-455

Department of Fetal Medicine and Prenatal Diagnosis, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, China; Obstetrics & Gynecology Institute of Guangzhou, Guangzhou, 510150, China; The Medical Centre for Critical Pregnant Women in Guangzhou, Guangzhou, 510150, China; Key Laboratory for Major Obstetric Diseases of Guangdong Province, Guangzhou, 510150, China. Electronic address:

Objective: Harlequin ichthyosis (HI) was the most severe form of ichthyoses, which leaded to neonatal death in 50% of cases. It was the result of mutations in ABCA12 gene. With the development of ultrasound skills and genetic analysis, HI could be prenatal diagnosed. Read More

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http://dx.doi.org/10.1016/j.tjog.2018.04.023DOI Listing
June 2018
14 Reads

A Unique Preparation and Delivery Method for Acitretin for Neonatal Harlequin Ichthyosis.

J Pediatr Pharmacol Ther 2018 Mar-Apr;23(2):164-167

Harlequin ichthyosis is a rare form of congenital ichthyosis with a distinct phenotypic appearance. We describe a case of a newborn baby with harlequin ichthyosis who was treated with an oral formulation of acitretin. The treatment resulted in a satisfactory improvement in the skin condition of the patient. Read More

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http://dx.doi.org/10.5863/1551-6776-23.2.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916446PMC
May 2018
8 Reads

Osteopenia and Multiple Fractures in an Infant With Harlequin Ichthyosis.

JAMA Dermatol 2018 Jul;154(7):847-849

Department of Pediatrics, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1001/jamadermatol.2018.0308DOI Listing
July 2018
6 Reads

Surgical management of the hand manifestations of Harlequin ichthyosis.

ANZ J Surg 2019 07 6;89(7-8):E325-E326. Epub 2018 Mar 6.

Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/ans.14435DOI Listing
July 2019
13 Reads

Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis.

Int J Dermatol 2018 Apr 29;57(4):428-433. Epub 2018 Jan 29.

FRIGE's Institute of Human Genetics, FRIGE House, Ahmedabad, India.

Background: Harlequin ichthyosis (HI) is a severe genetic disorder caused by the mutation in the ABCA12 gene. Infants born with this condition have markedly thickened, hard stratum corneum skin all over the body.

Methods: A female child born with a thick white plate of skin with deep cracks all over the body was investigated for genes associated with congenital Ichthyosis by Next Generation sequencing. Read More

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http://dx.doi.org/10.1111/ijd.13923DOI Listing
April 2018
11 Reads

Harlequin Ichthyosis - A Case Report.

Ir Med J 2017 Aug 8;110(7):606. Epub 2017 Aug 8.

Department of Obstetrics and Gynaecology, Wexford General Hospital, Newtown Road. Wexford.

Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Read More

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August 2017
6 Reads

Compound heterozygous mutations with novel missense mutation in harlequin ichthyosis.

BMJ Case Rep 2018 Jan 3;2018. Epub 2018 Jan 3.

Department of Dermatology, KK Women's and Children's Hospital, Singapore, Singapore.

Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, presenting at birth with distinctive facial features and thick, plate-like scales over the entire body. The abnormal skin barrier predisposes the patient to multiple complications, including dehydration and sepsis. Mortality rates of babies with HI have been greatly reduced since the introduction of systemic retinoid therapy. Read More

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http://dx.doi.org/10.1136/bcr-2017-222025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5775800PMC
January 2018
8 Reads

Harlequin ichthyosis: A rare case.

Turk J Obstet Gynecol 2017 Jun 15;14(2):138-140. Epub 2017 Jun 15.

K.L.E. University's Jawaharlal Nehru Medical College, Department of Obstetrics and Gynecology, Belagavi, India.

Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. Read More

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http://cms.galenos.com.tr/Uploads/Article_15868/138-140.pdf
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http://dx.doi.org/10.4274/tjod.63004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558415PMC
June 2017
13 Reads

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.

J Invest Dermatol 2017 11 31;137(11):2344-2353. Epub 2017 Jul 31.

St. John's Institute of Dermatology, King's College London (Guy's Campus), London, UK; Centre for Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UK. Electronic address:

Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme in the de novo synthesis pathway of ceramides. Two individuals had hyperkeratosis confined to palms, soles, and anogenital skin, whereas the other two had more severe, generalized harlequin ichthyosis-like skin. Read More

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http://dx.doi.org/10.1016/j.jid.2017.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5646945PMC
November 2017
52 Reads

A profile of lipid dysregulation in harlequin ichthyosis.

Br J Dermatol 2017 11 19;177(5):e217-e219. Epub 2017 Oct 19.

Monash Biomedicine Discovery Institute, Monash University, Wellington Road, Clayton, 3800, VIC, Australia.

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http://dx.doi.org/10.1111/bjd.15642DOI Listing
November 2017
41 Reads

Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene.

J Dermatol 2017 Aug 11;44(8):950-953. Epub 2017 Mar 11.

Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan.

Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, with a high mortality rate. Recent advances in neonatal care and the early administration of retinoids have improved the survival rate of HI. Here, we present a case of HI who was successfully treated with early administration of etretinate and showed good prognosis. Read More

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http://dx.doi.org/10.1111/1346-8138.13823DOI Listing
August 2017
50 Reads

Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.

Pediatrics 2017 01 20;139(1). Epub 2016 Dec 20.

Department of Dermatology, State University of New York Downstate Medical Center, Brooklyn, New York;

Harlequin ichthyosis (HI) is the most severe phenotype of the autosomal recessive congenital ichthyoses. HI is caused by mutations in the lipid transporter adenosine triphosphate binding cassette A 12 (ABCA12). Neonates are born with a distinct clinical appearance, encased in a dense, platelike keratotic scale separated by deep erythematous fissures. Read More

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http://dx.doi.org/10.1542/peds.2016-1003DOI Listing
January 2017
33 Reads

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.

J Invest Dermatol 2017 02 18;137(2):385-393. Epub 2016 Oct 18.

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program. Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p. Read More

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http://dx.doi.org/10.1016/j.jid.2016.07.043DOI Listing
February 2017
88 Reads

Colloidion Baby: A Rare Clinical Entity.

J Clin Diagn Res 2016 Jul 1;10(7):SJ01-2. Epub 2016 Jul 1.

Senior Resident, Department of Obstetrics and Gynecology, AIIMS Rishikesh, Delhi, India .

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http://jcdr.net/article_fulltext.asp?issn=0973-709x&year
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http://dx.doi.org/10.7860/JCDR/2016/16804.8100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020182PMC
July 2016
23 Reads

Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.

PLoS One 2016 23;11(8):e0161465. Epub 2016 Aug 23.

Department of Dermatology and Charles C. Gates Center for Regenerative Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, United States of America.

Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5' splice donor site and truncation of the Abca12 RNA transcript. Homozygous mutants of this smooth skin or smsk allele die perinatally with shiny translucent skin, typical of animal models of Harlequin Ichthyosis. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161465PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4994956PMC
July 2017
31 Reads

A case report of fatal harlequin ichthyosis: Insights into infectious and respiratory complications.

JAAD Case Rep 2016 Jul 3;2(4):301-3. Epub 2016 Aug 3.

State University of New York Downstate Medical Center, Department of Dermatology, Brooklyn, New York.

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http://dx.doi.org/10.1016/j.jdcr.2016.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976614PMC
July 2016
18 Reads

Congenital Ichthyosis - Collodion Baby Case Report.

J Clin Diagn Res 2016 Jun 1;10(6):SJ01-2. Epub 2016 Jun 1.

Assistant Professor, Department of Anatomy, Lady Harding Medical College , New Delhi, India .

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http://dx.doi.org/10.7860/JCDR/2016/16397.7953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963732PMC
June 2016
42 Reads

Harlequin Ichthyosis: A Surgical Perspective.

Pediatr Dermatol 2016 Sep 28;33(5):e327-32. Epub 2016 Jul 28.

Plastic and Reconstructive Surgery, Seattle Children's Hospital, Seattle, Washington.

Limb constriction or encasement in patients with harlequin ichthyosis can cause tissue injury resulting in necrosis and auto-amputation. Surgical release of constrictive plaques has been previously demonstrated, but the perioperative and intraoperative considerations surrounding this infrequent intervention have not been discussed in detail. This report documents a case of harlequin ichthyosis requiring surgical treatment, focusing on the importance of early surgical consultation, risks of surgery, indications for and timing of surgical intervention, and the details of the operation. Read More

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http://dx.doi.org/10.1111/pde.12944DOI Listing
September 2016
36 Reads

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

Clin Exp Dermatol 2016 Aug 6;41(6):636-9. Epub 2016 Jul 6.

Cancer Science Institute of Singapore, National University of Singapore, Singapore, Singapore.

Harlequin ichthyosis (HI) is the most severe form of recessive congenital ichthyosis, and is frequently lethal. We describe a family with prenatal diagnosis of HI in two siblings. We applied genomic capture and massively parallel sequencing to detect all mutations in 20 genes, including ABCA12, with inherited mutations that predispose to congenital ichthyosis. Read More

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http://dx.doi.org/10.1111/ced.12861DOI Listing
August 2016
73 Reads

Generalized morphea in a child with harlequin ichthyosis: a rare association.

Rev Bras Reumatol Engl Ed 2016 Jan-Feb;56(1):82-5. Epub 2014 Nov 26.

Pediatric Rheumatology Unit, Children's Hospital, Faculdade de Medicina, Universidade São Paulo, São Paulo, SP, Brazil; Division of Rheumatology, Faculdade de Medicina, Universidade São Paulo, São Paulo, SP, Brazil. Electronic address:

Introduction: Harlequin ichthyosis (HI) is a severe and rare hereditary congenital skin disorder characterized by excessive dryness, ectropion and eclabion. The association of ichthyosis with systemic sclerosis has been described in only three children. No patient with generalized morphea (GM) associated with harlequin ichthyosis was described. Read More

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http://dx.doi.org/10.1016/j.rbre.2014.05.004DOI Listing
October 2018
32 Reads

Cover image: Unpeeling the layers of harlequin ichthyosis.

Br J Dermatol 2016 May;174(5):1160-1

Department of Dermatology, St George Hospital, Sydney, NSW, Australia.

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http://dx.doi.org/10.1111/bjd.14469DOI Listing
May 2016
16 Reads