313 results match your criteria Ichthyosis Harlequin


Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature.

Pediatr Rheumatol Online J 2021 Jun 3;19(1):80. Epub 2021 Jun 3.

Pediatric Rheumatology, Pediatric Medium Intensity Care Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Via della Commenda, 9, 20122, Milan, Italy.

Background: Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis. Juvenile Idiopathic Arthritis (JIA) represents a heterogenous group of disorders all sharing the clinical manifestation of chronic arthritis. Association of HI and chronic arthritis has been reported in few cases. Read More

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Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.

BMC Med Genomics 2021 May 26;14(1):140. Epub 2021 May 26.

Grupo Neurociencia Y Cognición, Facultad de Psicología, Universidad Cooperativa de Colombia, Medellín, Colombia.

Background: Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. Among its different types, harlequin ichthyosis (HI) stands out due to its severity. Read More

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Guards! Guards! How innate lymphoid cells ensure local law and order.

Biomed J 2021 Apr 27;44(2):105-111. Epub 2021 Apr 27.

University of Copenhagen, BRIC Biotech Research & Innovation Centre, Lund Group, Copenhagen, Denmark. Electronic address:

This special issue of the Biomedical Journal is dedicated to the latest official recruits in the field of immunology: innate lymphoid cells, the tissue-resident sentinels and first responders to damage or invasion. Subsequently, we consider extracellular vesicle release during bacterial infection, how immunomodulation can avoid compromising Mycobacterium tuberculosis clearance, and how innate immunity jeopardises the organism during rheumatoid arthritis. Moreover, we ponder over the predictive value of cardiac troponin in influenza, the virtues of cashew nuts and bilirubin, as well as holes in the heart. Read More

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The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.

Acta Derm Venereol 2021 May 6. Epub 2021 May 6.

IDI-IRCCS (Istituto Dermopatico dell'Immacolata-Istituto di Ricovero e Cura a Carattere Scientifico, Dermatological Research Hospital), Via Monti di Creta 104, IT-00167 Rome, Italy.

Autosomal recessive congenital ichthyoses (ARCI) are characterized by generalized skin scaling, hyperkeratosis, erythroderma, and disabling features affecting the skin (palmoplantar keratoderma, fissures, pain, itch), eyes, ears, and joints. Disease severity and chronicity, patient disfigurement, and time and costs required for care impose a major burden on quality of life. This multicentre cross-sectional study investigated the impact of ARCI on quality of life of patients and families, using the Dermatology Life Quality Index (DLQI), the Children DLQI (CDLQI) and Family Burden of Ichthyosis (FBI) questionnaires. Read More

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Early escharotomy-like procedure for the prevention of extremity autoamputation in harlequin ichthyosis.

Biomed J 2021 Apr 11;44(2):223-226. Epub 2021 Apr 11.

Division of Trauma Plastic Surgery, Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; Craniofacial Research Center, Chang Gung Memorial Hospital at Taoyuan, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan; Xiamen Chang Gung Hospital, Xiamen, China. Electronic address:

Harlequin ichthyosis is a rare congenital disorder, which causes restrictive circumferential encasement of the trunk and limbs. Patients usually develop compartment syndrome and sequential cyanosis of limbs and digits, leading to autoamputation. We report a case of harlequin ichthyosis in which all digits were preserved with an early escharotomy-like procedure. Read More

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Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

Exp Dermatol 2021 Mar 31. Epub 2021 Mar 31.

Division of Dermatology and Pediatric Dermatology Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole-exome and direct sequencing to delineate the relative distribution of pathogenic variants as well as identify genotype-phenotype correlations in a cohort of 62 Middle Eastern families with ARCI of various ethnic backgrounds. Read More

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Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review.

BMC Med Imaging 2021 Mar 21;21(1):56. Epub 2021 Mar 21.

Department of Ultrasound, First Affiliated Hospital of Anhui Medical University, 218 Jixi Road, Hefei, 230022, Anhui, China.

Background: Harlequin ichthyosis (HI) is a rare and severe genetic skin disorder that occurs within the developing foetus. Due to the extremely poor prognosis, prenatal diagnosis becomes very important, especially for foetuses with no family history. There are few reports on prenatal diagnosis in PubMed. Read More

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Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report.

Ann Transl Med 2021 Jan;9(2):183

Seven Section of Department of Gynaecology, the Second Hospital of Hebei Medical University, Shijiazhuang, China.

Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogeneous group of skin disorders, including harlequin ichthyosis (HI), lamellar ichthyosis, and bullous congenital ichthyosiform erythroderma. HI is the most phenotypically severe autosomal recessive congenital ichthyosis associated with the mutation of the adenosine triphosphate-binding cassette subfamily A member 12 () gene. The clinical manifestations include generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, and contractures. Read More

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January 2021

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report.

Front Genet 2020 12;11:608196. Epub 2021 Jan 12.

Center of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.

Background: Harlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. has been identified as the major disease-causing gene of HI.

Methods: A case of HI was prenatally diagnosed by ultrasonography and genetic tests. Read More

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January 2021

Meta-Analysis of Mutations in or Identified in a Large Cohort of 224 Patients.

Genes (Basel) 2021 Jan 9;12(1). Epub 2021 Jan 9.

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

The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: , , , , , , , , , and . The main focus of this report is the mutational spectrum of the genes and , which encode the epidermal lipoxygenases arachidonate 12-lipoxygenase, i. Read More

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January 2021

Ectropion surgery might not be a long-term solution for harlequin ichthyosis.

Dermatol Ther 2021 01 8;34(1):e14646. Epub 2021 Jan 8.

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

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January 2021

Topical Aminosalicylic Acid Improves Keratinocyte Differentiation in an Inducible Mouse Model of Harlequin Ichthyosis.

Cell Rep Med 2020 Nov 17;1(8):100129. Epub 2020 Nov 17.

Department of Anatomy and Developmental Biology, Development and Stem Cell Program, Monash Biomedicine Discovery Institute (BDI), Monash University, Melbourne, Australia.

Mutations in the lipid transport protein ABCA12 cause the life-threatening skin condition harlequin ichthyosis (HI), which is characterized by the loss of skin barrier function, inflammation, and dehydration. Inflammatory responses in HI increase disease severity by impairing keratinocyte differentiation, suggesting amelioration of this phenotype as a possible therapy for the condition. Existing treatments for HI are based around the use of retinoids, but their value in treating patients during the neonatal period has been questioned relative to other improved management regimens, and their long-term use is associated with side effects. Read More

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November 2020

Harlequin ichthyosis: A case report of severe presentation in Eritrea.

Clin Case Rep 2020 Nov 28;8(11):2152-2154. Epub 2020 Jun 28.

Unit of Anatomy and Embryology OCMHS Asmara Eritrea.

The severe form of harlequin ichthyosis is often lethal in the perinatal period, and it is commonly a product of consanguineous parents. Therefore, in vitro fertilization and pregenetic diagnosis are recommended to avoid the recurrence of the error. Read More

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November 2020

Harlequin ichthyosis from birth to 12 years.

BMJ Case Rep 2020 Aug 26;13(8). Epub 2020 Aug 26.

Paediatrics, Royal Oldham Hospital, Manchester, UK.

A neonate was born with generalised, erythrodermic, thick, fissured skin, severe ectropion, hypoplastic auricles and limb abnormalities. A clinical diagnosis of harlequin ichthyosis was made, allowing supportive therapies to be commenced promptly. Oral acitretin was initiated on day 3 of life, complemented by an intensive skin care regimen. Read More

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Harlequin Fetus in a Twin Pregnancy: An Extremely Rare Presentation.

J Coll Physicians Surg Pak 2020 Jun;30(6):652-654

Department of Dermatology, Combined Military Hospital, Malir Cantt, Karachi, Pakistan.

Harlequin ichthyosis (HI) is a rare fatal type of congenital ichthyosis with autosomal recessive inheritance pattern. We report an uncommon presentation of a case of HI in a neonate, who was the second outcome of the dizygotic twin pregnancy of a Pakistani female. Whilst the first twin remained alive and healthy, HI baby was not able to survive beyond the third day of her life. Read More

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3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.

J Clin Invest 2020 09;130(9):4798-4810

Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 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 that could lead to the identification of new treatments for improving 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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September 2020

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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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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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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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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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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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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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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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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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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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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December 2019

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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September 2019

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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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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January 2020