326 results match your criteria Ichthyosis Harlequin


Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature.

Children (Basel) 2022 Jun 15;9(6). Epub 2022 Jun 15.

Histology and Embryology Department, Faculty of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.

Harlequin ichthyosis (HI) is a life-threatening genetic disorder that largely affects the skin of infants. HI is the most severe form of the autosomal recessive disorder known as ichthyosis. It is caused by mutations in the cassette (lipid-transporter adenosine triphosphate-binding cassette ). Read More

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Recalcitrant erythrodermic ichthyosis with atopic dermatitis successfully treated with Dupilumab in combination with Guselkumab.

Skin Health Dis 2022 Mar 22;2(1):e87. Epub 2021 Dec 22.

Department of Dermatology and Venereology Hamad Medical Corporation Doha Qatar.

Background: Autosomal recessive congenital ichthyosis refers to a group of rare inherited disorders of keratinization and defective epidermal barrier resulting in varying clinical presentations and severities ranging from harlequin ichthyosis to congenital ichthyosiform erythroderma (CIE). Secondary atopic dermatitis (AD) can aggravate the disease state for CIE patients leading to recalcitrant CIE/AD with potentially unfavourable side effects and low tolerability.

Aims: Here, we report about a 38-year-old male patient with severe CIE as well as AD over the last 30 years. Read More

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Harlequin Ichthyosis: A Fatal Case Report in Al-Medina, Saudi Arabia.

Cureus 2022 Mar 27;14(3):e23533. Epub 2022 Mar 27.

Dermatology, Alrayan Medical College, Medina, SAU.

Harlequin ichthyosis (HI) is an autosomal recessive disorder. It is a fatal disease and many infants born with HI die shortly after birth. The incidence is extremely rare and is reported to be about 1 in 300,000 births. Read More

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Harlequin fetus: A case report.

Indian J Pathol Microbiol 2022 Apr-Jun;65(2):462-464

Department of Pathology, PCMC's PGI, YCMH, Pimpri, Pune, Maharashtra, India.

Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. It is inherited in an autosomal recessive fashion. Read More

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DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects.

BMC Vet Res 2022 Jan 7;18(1):20. Epub 2022 Jan 7.

Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.

Background: Ichthyosis describes a localized or generalized hereditary cornification disorder caused by an impaired terminal keratinocyte differentiation resulting in excessive stratum corneum with the formation of more or less adherent scales. Ichthyosis affects humans and animals. Two rare bovine forms are reported, the severe harlequin ichthyosis and the less severe congenital ichthyosis, both characterized by a severe orthokeratotic lamellar hyperkeratosis. Read More

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January 2022

Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.

Hum Mol Genet 2022 03;31(7):1105-1114

Lipid Pathobiochemistry Group, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.

Functional skin barrier requires sphingolipid homeostasis; 3-ketodihydrosphingosine reductase or KDSR is a key enzyme of sphingolipid anabolism catalyzing the reduction of 3-ketodihydrosphingosine to sphinganine. Biallelic mutations in the KDSR gene may cause erythrokeratoderma variabilis et progressive-4, later specified as PERIOPTER syndrome, emphasizing a characteristic periorifical and ptychotropic erythrokeratoderma. We report another patient with compound heterozygous mutations in KDSR, born with generalized harlequin ichthyosis, which progressed into palmoplantar keratoderma. Read More

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Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling.

Acta Derm Venereol 2021 Sep 15;101(9):adv00546. Epub 2021 Sep 15.

Department of Dermatology, University of Münster, Münster, Germany.

Data on vitamin D status of patients with inherited ichthyosis in Europe is scarce and unspecific concerning the genetic subtype. This study determined serum levels of 25-hydroxyvitamin D3 (25(OH)D3) in 87 patients with ichthyosis; 69 patients were additionally analysed for parathyroid hormone. Vitamin D deficiency was pronounced in keratinopathic ichthyosis (n = 17; median 25(OH)D3: 10. Read More

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September 2021

Anesthetic Management of a Patient with Harlequin Ichthyosis.

Case Rep Anesthesiol 2021 26;2021:9953320. Epub 2021 Jul 26.

Department of Anesthesiology, Westchester Medical Center, 100 Woods Road, Valhalla 10595, NY, USA.

Harlequin ichthyosis is a severe and often fatal form of congenital ichthyosis caused by defective lipid transport which results in a dysfunctional skin barrier. Patients who survive the neonatal period are predisposed to skin infections, sepsis, impaired thermoregulation, and dehydration. The unique skin characteristics can present significant anesthetic challenges. Read More

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Harlequin fetus: A mayhem in a consanguineous marriage?

Clin Case Rep 2021 Jul 23;9(7):e04540. Epub 2021 Jul 23.

Department of Medicine School of Medicine Makerere University College of Health Sciences Kampala Uganda.

Ichthyosis fetalis is a very rare and life-threatening dermatological disorder that is very difficult to treat, especially in low-resource settings. Read More

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High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany.

J Eur Acad Dermatol Venereol 2021 Nov 29;35(11):2293-2299. Epub 2021 Jul 29.

Faculty of Medicine, Department of Dermatology, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany.

Background: Non-syndromic congenital ichthyosis describes a heterogeneous group of hereditary skin disorders associated with erythroderma and scaling at birth. Although both severe and mild courses are known, the prediction of the natural history in clinical practice may be challenging.

Objectives: To determine clinical course and genotype-phenotype correlations in children affected by non-syndromic congenital ichthyosis in a case series from south-western Germany. Read More

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November 2021

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 05 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 04 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 Jun 22;101(6):adv00477. Epub 2021 Jun 22.

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 04 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 09 15;30(9):1290-1297. Epub 2021 Apr 15.

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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September 2021

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

BMC Med Imaging 2021 03 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 01 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 11 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