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    BJD Research Letter: A profile of lipid dysregulation in Harlequin Ichthyosis.
    Br J Dermatol 2017 May 10. Epub 2017 May 10.
    Monash Biomedicine Discovery Institute, 23 Innovation Walk, Monash University, Wellington Rd, Clayton, 3800, Victoria, Australia.
    Harlequin Ichythosis (HI) is a severe skin disease caused by mutations in the lipid transport protein, ABCA12. This disrupts extracellular lipid deposition; limiting barrier function and resulting in the differentiation of a thickened, restrictive epidermis. This phenotype is at least partially recapitulated in mouse models of disease. Read More

    Whole Exome Sequencing Identified a Novel Frameshift Mutation in SDR9C7 underlying Autosomal Recessive Congenital Ichthyosis in a Pakistani Family.
    Br J Dermatol 2017 Mar 31. Epub 2017 Mar 31.
    Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-I-Azam University, Islamabad, Pakistan.
    Autosomal Recessive Congenital Ichthyosis (ARCI) is a group of cornification disorders (prevalence 1:200,000) broadly divided into three classes namely Harlequin Ichthyosis (HI; OMIM#242500), Lamellar Ichthyosis (LI; OMIM#242304) and Congenital Ichthyosiform Erythroderma (CIE; OMIM#242100). ARCI clinical features include generalized scaling, hypohidrosis and palmo-plantar hyperlinearity although presentation and severity may vary significantly. A large number of affected individuals present with collodion membrane at birth. Read More

    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 Mar 11. 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

    Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.
    Pediatrics 2017 Jan 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

    Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.
    J Invest Dermatol 2017 Feb 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

    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

    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

    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

    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

    Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.
    Acta Derm Venereol 2016 Nov;96(7):932-937
    Department of Immunology, Genetics and Pathology, Clinical Genetics, University Hospital, Uppsala University, SE-751 85 Uppsala, Sweden.
    Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwide screenings of suspected cases of ARCI in Denmark and Sweden, we identified 132 patients (age range 0. Read More

    Inherited ichthyosis: Non-syndromic forms.
    J Dermatol 2016 Mar;43(3):242-51
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
    Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. Read More

    Facial features in Harlequin ichthyosis: Clinical findings about 4 cases.
    Rev Stomatol Chir Maxillofac Chir Orale 2016 Feb 28;117(1):51-3. Epub 2015 Dec 28.
    Service de chirurgie maxillo-faciale, hôpital Côte de Nacre, CHU de Caen, 14033 Caen cedex, France.
    We report 4 cases of Harlequin ichthyosis, which is a rare and severe congenital ichthyosis involving the face. Facial appearance consists in severe ectropion, conjonctival edema, eclabium, flattened ears, broadened nose and large, thick, plate-like skin scales. Recent advances in neonatal care have been made, such as retinoid therapy, and have led to an increased survival rate. Read More

    Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis.
    J Clin Diagn Res 2015 Nov 1;9(11):QD04-6. Epub 2015 Nov 1.
    Assistant Professor, Department of Medical Genetics, Christian Medical College , Vellore, Tamil Nadu, India .
    Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between. Read More

    Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall.
    J Dermatol Sci 2015 Dec 8;80(3):196-202. Epub 2015 Oct 8.
    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address:
    Background: Harlequin ichthyosis (HI), one of the most severe genetic skin disorders, is autosomal recessively inherited. Mutations in ABCA12, which encodes ATP-binding cassette transporter A12 (ABCA12), are known to be the cause of HI. It is very difficult to make precise genetic diagnosis when an exon deletion mutation overlaps the site of another causative point mutation. Read More

    Collodion Baby with TGM1 gene mutation.
    Int Med Case Rep J 2015 22;8:205-8. Epub 2015 Sep 22.
    Department of Obstetrics and Gynaecology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, India.
    Collodion baby (CB) is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, and trichothiodystrophy. We report a CB that was brought to our department and later diagnosed to have TGM1 gene c. Read More

    A New Born with Lamellar ichthyosis(Collodion Baby).
    J Coll Physicians Surg Pak 2015 Aug;25(8):621-2
    Department of Pediatrics, Rehman Medical Institute, Peshawar.
    Ichthyosisis an infrequent clinical entity worldwide with an incidence of 1:600,000 births. It can be one of the two types: collodion baby and Harlequin fetus or malignant keratoma (most severe form). The clinical manifestations in either form are thick and hard skin with deep splits. Read More

    Harlequin Infant Born to a Varicella Infected Mother: A Case Report.
    Fetal Pediatr Pathol 2015 17;34(4):241-7. Epub 2015 Jun 17.
    1Senior resident, Department of Pathology, JIPMER, Puducherry, India.
    Harlequin ichthyosis is a rare, severe form of congenital ichthyosis characterised by distinct physical appearance of the infant. It has occurrence of 1 in 1 million births and over 100 cases have been reported so far. It is caused by mutation in ABCA12 gene involved in lipid transport leading to profound thickening of stratum corneum. Read More

    [Skin morphology in congenital ichthyosis (Harlequin fetus)].
    Arkh Patol 2015 Mar-Apr;77(2):39-42
    Kaluga Regional Dermatovenereological Dispensary, Russian Federation.
    The paper describes a skin morphological examination using an immunohistochemical study (Ki-67, cytokeratin (CK) 5/6, and CK LMW) in a dead 4-month-old girl with congenital ichthyosis (Harlequin ichthyosis (HI)). There is impaired proliferative activity, abnormalities in epidermal differentiation with abnormal CK LMW synthesis, and those in the differentiation of the skin appendages. There are also pronounced sclerotic changes with a predominance of reticulin fibers, derma, and its vessels. Read More

    Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.
    J Dermatol Sci 2015 Jul 30;79(1):4-9. Epub 2015 Apr 30.
    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address:
    Research on the molecular genetics and pathomechanisms of autosomal recessive congenital ichthyosis (ARCI) has advanced considerably and several causative genes and molecules underlying the disease have been identified. Three major ARCI phenotypes are harlequin ichthyosis (HI), lamellar ichthyosis (LI), and congenital ichthyosiform erythroderma (CIE). Skin barrier defects are involved in the pathogenesis of ARCI. Read More

    Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.
    Pediatr Int 2015 Aug 14;57(4):516-22. Epub 2015 Jul 14.
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
    Ichthyoses are a group of disorders marked by whitish, brown or dark-brown scales on the skin of almost the whole body. Harlequin ichthyosis (HI) is the most severe form. Neonatal death from HI was once common. Read More

    [Interdisciplinary care of newborns with epidermolysis bullosa and severe congenital ichthyoses].
    Hautarzt 2015 Apr;66(4):236-44
    Fachbereich Pädiatrische Dermatologie und Allergologie, Kinder- und Jugendkrankenhaus AUF DER BULT, Janusz-Korczak-Allee 12, 30173, Hannover, Deutschland,
    Severe genodermatoses such as hereditary blistering diseases or Mendelian disorders of cornification may present as neonatal emergencies requiring interdisciplinary care. In particular, epidermolysis bullosa hereditaria, the collodion baby phenotype and harlequin ichthyosis represent serious clinical challenges with neonatal onset. This review summarizes dermatologically relevant aspects regarding pathogenesis, clinical presentation, diagnosis and therapy of these illnesses. Read More

    A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.
    Clin Exp Dermatol 2015 Oct 9;40(7):757-60. Epub 2015 Mar 9.
    Genetics Unit, GENIUROS Group, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
    Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis. TGM1 mutations cause > 50% of ARCI cases in the USA. Read More

    Obstetric anesthesia for harlequin ichthyosis: a unique challenge.
    A A Case Rep 2015 Jan;4(2):19-21
    From the *Department of Anesthesiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas; and †Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
    Harlequin ichthyosis (HI) is a rare disorder of defective lipid transport resulting in severe epidermal hyperkeratosis producing large plate-like scales. Although mortality is high, improved treatments have allowed some with HI to survive into their third and fourth decades. However, until this case, there have been no known reports of pregnancy followed by birth of a healthy neonate to a mother with HI. Read More

    Cellular basis of secondary infections and impaired desquamation in certain inherited ichthyoses.
    JAMA Dermatol 2015 Mar;151(3):285-92
    Dermatology Service, Department of Veterans Affairs Medical Center, University of California, San Francisco2Department of Dermatology, University of California, San Francisco.
    Importance: Secondary infections and impaired desquamation complicate certain inherited ichthyoses, but their cellular basis remains unknown. In healthy human epidermis, the antimicrobial peptides cathelicidin (LL-37) and human β-defensin 2 (HBD2), as well as the desquamatory protease kallikrein-related peptidase 7 (KLK7), are delivered to the stratum corneum (SC) interstices by lamellar body (LB) exocytosis.

    Objective: To assess whether abnormalities in the LB secretory system could account for increased risk of infections and impaired desquamation in inherited ichthyoses with known abnormalities in LB assembly (Harlequin ichthyosis [HI]), secretion (epidermolytic ichthyosis [EI]), or postsecretory proteolysis (Netherton syndrome [NS]). Read More

    Harlequin ichthyosis in an infant born to a father with eczema.
    J Trop Pediatr 2015 Apr 24;61(2):143-5. Epub 2014 Dec 24.
    Department of Pediatrics, Civil Hospital Karachi, Karachi, Pakistan, 74200
    Harlequin ichthyosis is characterized by thickening of the layer of the skin which contains keratin. Eczema is a chronic relapsing skin disorder which is also associated with disrupted epidermal barrier. We report the case of a 6-hour-old male patient who was brought to the neonatal intensive care unit of our hospital with crusting skin lesions all over the body, presence of a severe ectropion and deranged electrolytes. Read More

    Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.
    Gene 2015 Feb 3;556(2):254-6. Epub 2014 Dec 3.
    Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Nampally, Hyderabad, India. Electronic address:
    Harequin ichthyosis is a severe autosomal recessive ichthyosis of congenital onset caused by biallelic mutations in the ABCA12 gene. We report two neonates of Indian origin with harlequin ichthyosis. The parents were retrospectively found to have novel mutations in ABCA12 gene after neonatal demise, which helped in providing prenatal diagnosis in subsequent pregnancies. Read More

    Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis.
    Hum Mol Genet 2015 Jan 10;24(2):436-49. Epub 2014 Sep 10.
    Department of Biochemistry and Molecular Biology Department of Anatomy and Developmental Biology, Monash University, Wellington Road, Clayton, VIC 3800, Australia
    Harlequin ichthyosis (HI) is a severe skin disease which leads to neonatal death in ∼50% of cases. It is the result of mutations in ABCA12, a protein that transports lipids required to establish the protective skin barrier needed after birth. To better understand the life-threatening newborn HI phenotype, we analysed the developing epidermis for consequences of lipid dysregulation in mouse models. Read More

    Harlequin color change after abdominal paracentesis in a newborn with neonatal hemochromatosis.
    Pediatr Dermatol 2014 Nov-Dec;31(6):e114-5. Epub 2014 Sep 10.
    Division of Neonatology, Bursa Dortcelik Children's Hospital, Bursa, Turkey.
    Harlequin color change is a distinctive cutaneous phenomenon presenting as a well-demarcated color change, with half of the body displaying erythema and the other half pallor. Only a few cases have been reported, possibly because of under-recognition. Recognition of this benign, self-limited condition may enable physicians to avoid unnecessary interventions. Read More

    Techniques for toddlers: linear band incision for harlequin ichthyosis with associated compartment syndrome.
    Pediatr Dermatol 2014 Sep-Oct;31(5):625-9
    Department of Surgery, Maimonides Medical Center, Brooklyn, New York.
    Harlequin ichthyosis (HI) is a rare autosomal recessive disorder of cornification in which children are born with an extremely thick stratum corneum that becomes a restrictive circumferential encasement around the orifices, limbs, chest, and abdomen, resulting in limb contractures. We present a neonate diagnosed in utero with HI. The infant was born with encasing bands of thickened skin creating strictures that were causing digital and limb cyanosis (compartment syndrome). Read More

    Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.
    Clin Exp Dermatol 2015 Jan 22;40(1):56-62. Epub 2014 Aug 22.
    First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
    Background: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of diseases of keratinization, characterized primarily by abnormal skin scaling over the whole body surface. Recently, ARCI has been designated to include the major forms of lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) and harlequin ichthyosis. The first two conditions are the most common major clinical subtypes, and both are caused principally by mutations in the transglutaminase 1 gene, TGM1, although other genes may be responsible in some cases. Read More

    Discovery in genetic skin disease: the impact of high throughput genetic technologies.
    Genes (Basel) 2014 Aug 4;5(3):615-34. Epub 2014 Aug 4.
    Centre for Cutaneous Research, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London E1 2AT, UK.
    The last decade has seen considerable advances in our understanding of the genetic basis of skin disease, as a consequence of high throughput sequencing technologies including next generation sequencing and whole exome sequencing. We have now determined the genes underlying several monogenic diseases, such as harlequin ichthyosis, Olmsted syndrome, and exfoliative ichthyosis, which have provided unique insights into the structure and function of the skin. In addition, through genome wide association studies we now have an understanding of how low penetrance variants contribute to inflammatory skin diseases such as psoriasis vulgaris and atopic dermatitis, and how they contribute to underlying pathophysiological disease processes. Read More

    Ichthyosis in the Neonatal Setting.
    Adv Neonatal Care 2015 Aug;15(4):253-60
    All Children's Hospital and School of Nursing, Regis University, Denver, Colorado.
    Background: There exists a group of rare, inherited scaly skin disorders, generally termed ichthyosis, that can be evident in the infant at the time of birth. Phenotypes for this disorder span the gamut of severity and may pose complex challenges to the healthcare provider.

    Purpose: This article explores the 3 most common nonsyndromic forms of ichthyosis seen in neonates as follows: X-linked recessive, lamellar, and bullous congenital ichthyosiform erythroderma. Read More

    Harlequin ichthyosis in a neonate born with assisted reproductive technology: a case report.
    Med J Islam Repub Iran 2013 Nov;27(4):229-32
    MD., Vice-chancellor for Treatment, Mazandaran University of Medical science, Sari, Iran,
    Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. Although prenatal diagnosis isdifficult for this disorder, recently, this obstacle has markedly improved with the use of DNA-based prenataldiagnosis. Here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology(ART). Read More

    Recent advances in the genetics and management of harlequin ichthyosis.
    Pediatr Dermatol 2014 Sep-Oct;31(5):539-46. Epub 2014 Jun 12.
    Department of Dermatology, Barts Health National Health Service Trust, Whitechapel, London, UK.
    Harlequin ichthyosis (HI) is the most severe and devastating form of the autosomal recessive congenital ichthyoses (ARCIs). Mutations in the ABCA12 gene result in disruption of intercellular lipid deposition in the stratum corneum and a major skin barrier defect. Patients present at birth, often premature, with cutaneous thick, yellow, hyperkeratotic plates with deep erythematous fissures, causing a typical facial appearance. Read More

    Harlequin ichthyosis: a case report of prolonged survival.
    BMJ Case Rep 2014 Mar 7;2014. Epub 2014 Mar 7.
    Department of Pediatrics, Armed Forces Hospital, Jubail, Eastern, Saudi Arabia.
    Harlequin ichthyosis (HI) is a rare type of congenital ichthyosis associated with poor survival. We report, with photographic record, a male baby born with HI. To the best of our knowledge, this is the first reported case of HI in Saudi Arabia, where the child has survived beyond 7 years. Read More

    A case of harlequin ichthyosis treated with isotretinoin.
    Dermatol Online J 2014 Feb 18;20(2). Epub 2014 Feb 18.
    Kaiser Permanente Los Angeles Medical Center.
    Harlequin ichthyosis is a rare congenital ichthyosis classified under the category of Autosomal Recessive Congenital Ichthyoses, which also include lamellar ichthyosis and congenital ichthyosiform erythroderma. It is caused by functional null mutations in the ABCA12 gene, a keratinocyte lipid transporter associated with lamellar granule formation. Patients have a classic clinical presentation at delivery and need neonatal intensive care treatment to maximize their chances of survival. Read More

    Harlequin ichthyosis: a case report.
    Pediatr Dent 2013 ;35(7):497-9
    Department of Pediatric Dentistry, College of Dentistry, University of Illinois at Chicago, Chicago, Ill., USA.
    Harlequin Ichthyosis (HI) is a very rare subtype of a group of hereditary disorders that have in common the accumulation and shedding of significant amounts of hyperkeratotic epidermis. HI has a very specific clinical presentation that includes eclabium, fish mouth appearance, mouth breathing and xerostomia. The addition of a very high caloric demand to the clinical features place these affected individuals at extremely high risk for developing rampant dental decay. Read More

    Harlequin ichthyosis: Case report.
    J Res Med Sci 2013 Nov;18(11):1004-5
    Department of Nursing, Zabol Medical Sciences University, Zabol, Iran.
    Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Read More

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