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    1008 results match your criteria Ichthyosis Lamellar

    1 OF 21

    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

    Congenital Ichthyosis: A Case Treated Successfully With Acitretin.
    Iran J Pediatr 2016 Oct 26;26(5):e2442. Epub 2016 Jul 26.
    Department of Pediatrics, Adana Numune Research and Training Hospital, Adana, Turkey.
    Introduction: Lamellar ichthyosis (collodion baby) is a cornification disorder classified under the category of autosomal recessive congenital ichthyosis and characterized by hyperkeratosis. Early-stage retinoid treatment has been shown to improve survival in these patients. In this article, a lamellar ichthyosis case is presented of an infant who had the symptoms at birth and was treated successfully with acitretin. Read More

    Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis by a homozygous deletion mutation in SDR9C7.
    Br J Dermatol 2017 Jan 23. Epub 2017 Jan 23.
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
    Autosomal recessive congenital ichthyosis (ARCI) is an umbrella term for inherited non-syndromic ichthyosis, which includes harlequin ichthyosis, lamellar ichthyosis (LI), congenital ichthyosiform erythroderma and pleomorphic ichthyosis (also called self-healing/self-improving collodion baby).(1) The clinical diversity is matched by genetic heterogeneity, with 11 genes currently implicated in the pathobiology of ARCI,(2,3) including the most recent discovery of two missense mutations in SDR9C7 in three consanguineous Lebanese families.(4) Here, we describe a case of ARCI (LI phenotype) that has a previously unreported homozygous deletion mutation in SDR9C7. Read More

    Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
    J Invest Dermatol 2017 Apr 23;137(4):845-854. Epub 2016 Dec 23.
    MRC Laboratory for Molecular Cell Biology, University College London, London, UK; Institute of Child Health, University College London, London, UK; Inherited Metabolic Diseases Unit, Great Ormond Street Hospital, London, UK. Electronic address:
    In this paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Biallelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein that interacts with Rab11a and Rab25 proteins and is involved in trafficking of the collagen-modifying enzyme LH3. Two patients were homozygous for the missense variant p. Read More

    Omega-O-Acylceramides in Skin Lipid Membranes: Effects of Concentration, Sphingoid Base, and Model Complexity on Microstructure and Permeability.
    Langmuir 2016 Dec 23;32(48):12894-12904. Epub 2016 Nov 23.
    Faculty of Pharmacy, Charles University , Hradec Králové 500 05, Czech Republic.
    Omega-O-acylceramides (acylCer), a subclass of sphingolipids with an ultralong N-acyl chain (from 20 to 38 carbons, most usually 30 and 32 carbons), are crucial components of the skin permeability barrier. AcylCer are involved in the formation of the long periodicity lamellar phase (LPP, 12-13 nm), which is essential for preventing water loss from the body. Lower levels of acylCer and LPP accompany skin diseases, such as atopic dermatitis, lamellar ichthyosis, and psoriasis. Read More

    Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis.
    Clin Cases Miner Bone Metab 2016 May-Aug;13(2):157-159. Epub 2016 Oct 5.
    The Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, Australia.
    Ichthyosiform dermatosis is a term referred to a group of disorders that have as their basis a disorder of keratinization (1). These conditions which are present at birth result in a generalized dry, scaly skin without any inflammation. There are several types of ichthyosis based on their clinical presentation and mode of inheritance. Read More

    An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis.
    J Allergy Clin Immunol 2017 Jan 20;139(1):152-165. Epub 2016 Aug 20.
    Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, NY; Laboratory for Investigative Dermatology, Rockefeller University, New York, NY.
    Background: The ichthyoses are rare genetic disorders associated with generalized scaling, erythema, and epidermal barrier impairment. Pathogenesis-based therapy is largely lacking because the underlying molecular basis is poorly understood.

    Objective: We sought to characterize molecularly cutaneous inflammation and its correlation with clinical and barrier characteristics. 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

    Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.
    Expert Opin Orphan Drugs 2016 Apr 10;4(4):395-406. Epub 2016 Mar 10.
    Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.
    Introduction: Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disease characterized by ichthyosis, spasticity, intellectual disability and a distinctive retinopathy. It is caused by inactivating mutations in ALDH3A2, which codes for fatty aldehyde dehydrogenase (FALDH) and results in abnormal metabolism of long-chain aliphatic aldehydes and alcohols. The potential disease mechanisms leading to symptoms include 1) accumulation of toxic fatty aldehydes that form covalent adducts with lipids and membrane proteins; 2) physical disruption of multi-lamellar membranes in skin and brain; 3) abnormal activation of the JNK cell signaling pathway; and 4) defective farnesol metabolism resulting in abnormal PPAR-α dependent gene expression. Read More

    Treatment of ichthyosis lamellaris using a series of herbal skin care products family.
    J Biol Regul Homeost Agents 2016 Apr-Jun;30(2 Suppl 3):65-72
    Chair of Dermatology, University of Rome “G. Marconi” Rome, Italy.
    Lamellar ichthyosis (LI) is a genetically heterogeneous group of disorders of keratinization that are inherited in an autosomal recessive fashion, occurring in approximately 1 in 300,000 live births. The treatment of the large, dark, plate-like scales that characterize the classic manifestation of the disease are still a challenge. The aim of this study was to evaluate the efficacy and tolerability of Dr. 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

    Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.
    Br J Dermatol 2017 Apr 17;176(4):1068-1073. Epub 2017 Jan 17.
    Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
    Autosomal recessive congenital ichthyosis (ARCI) caused by mutations in CYP4F22 is very rare. CyP4F22, a protein of the cytochrome-P450 family 4, encodes an epidermal ω-hydroxylase decisive in the formation of acylceramides, which is hypothesized to be crucial for skin-barrier function. We report a girl with consanguineous parents presenting as collodion baby with contractures of the great joints and palmoplantar hyperlinearity. Read More

    [Ichthyosis and social stigma in Burkina Faso].
    Ann Dermatol Venereol 2016 Aug-Sep;143(8-9):554-8. Epub 2016 Apr 28.
    Service de dermatologie-vénéreologie, CHU Yalgado Ouédraogo, Kadiogo 10 BP 269, Ouagadougou, Burkina Faso.
    Background: Through the story of two families presenting ichthyosis, we report the support and social integration difficulties inherent in these genetic diseases.

    Patients And Methods: Family No. 1: a 38-year-old shepherd and his wife of 25 years both had lamellar ichthyosis that had been present continually since childhood. 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

    Recurrent Coxsackievirus Infection in a Patient with Lamellar Ichthyosis.
    Pediatr Dermatol 2016 Mar-Apr;33(2):e140-2. Epub 2016 Jan 29.
    Department of Dermatology, School of Medicine, Yale University, New Haven, Connecticut.
    We describe a case of coxsackievirus (CV) A6 infection in a patient with lamellar ichthyosis followed by subsequent CV A8 infection within the same year. Atypical cutaneous features characterized the infection. This observation, combined with the rapidity with which reinfection occurred, suggests that the natural history of CV infection may be altered in patients with underlying ichthyoses. Read More

    Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation.
    J Invest Dermatol 2016 Mar 30;136(3):672-9. Epub 2015 Dec 30.
    Department of Dermatology, Venereology and Allergology, University Medical Center Goettingen, Goettingen, Germany; Clinic for Dermatology and Venereology, University Medical Center Rostock, Rostock, Germany. Electronic address:
    Loss-of-function mutations in the synaptosomal-associated protein 29 (SNAP29) gene cause the cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome. In this study, we created total (Snap29(-/-)) as well as keratinocyte-specific (Snap29(fl/fl)/K14-Cre) Snap29 knockout mice. Both mutant mice exhibited a congenital distinct ichthyotic phenotype resulting in neonatal lethality. 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

    Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.
    Pediatr Dermatol 2016 Mar-Apr;33(2):e48-51. Epub 2015 Dec 9.
    Department of Dermatology, Hospital Universitario Niño Jesús, Madrid, Spain.
    Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype called self-healing collodion baby (SHCB), which is considered as ARCI subtype in the 2010 consensus classification of congenital ichthyosis. The term self-improving collodion ichthyosis (SICI) has been proposed for these patients. Read More

    Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions.
    Pediatr Dermatol 2016 Jan-Feb;33(1):e20-2. Epub 2015 Dec 8.
    Department of Dermatology, University of Mississippi Medical Center, Jackson, Mississippi.
    Collodion membrane is most closely associated with forms of autosomal recessive congenital ichthyosis, but the differential diagnosis includes many other less common etiologies. Herein we present a case of Gaucher disease (GD) type 2 in a neonate presenting with collodion membrane in addition to blueberry muffin lesions. The clinical presentation and etiology of GD and the differential diagnoses for collodion membrane and blueberry muffin lesions are briefly reviewed. Read More

    Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.
    F1000Res 2015 31;4:446. Epub 2015 Jul 31.
    Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology, Delhi, India ; Academy of Scientific and Innovative Research, Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi, India.
    Lamellar ichthyosis (LI), considered an autosomal recessive monogenic genodermatosis, has an incidence of approximately 1 in 250,000. Usually associated with mutations in the transglutaminase gene ( TGM1), mutations in six other genes have, less frequently, been shown to be causative. Two siblings, born in a collodion membrane, presented with fish like scales all over the body. Read More

    Functional and Physical Interaction of Diacylglycerol Kinase ζ with Protein Kinase Cα Is Required for Cerebellar Long-Term Depression.
    J Neurosci 2015 Nov;35(46):15453-65
    Center for Functional Connectomics, Korea Institute of Science and Technology, Seoul 136-791, Korea, and
    Unlabelled: The balance between positive and negative regulators required for synaptic plasticity must be well organized at synapses. Protein kinase Cα (PKCα) is a major mediator that triggers long-term depression (LTD) at synapses between parallel fibers and Purkinje cells in the cerebellum. However, the precise mechanisms involved in PKCα regulation are not clearly understood. Read More

    Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
    Acta Derm Venereol 2016 May;96(4):473-8
    Institute of Human Genetics, , University Medical Center Freiburg,, Freiburg, Germany.
    Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied. Epidermolytic ichthyosis is caused by mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to the phenomenon of revertant mosaicism. In this study mutations were found in KRT1, KRT2 and KRT10, including 8 mutations that are novel pathogenic variants. Read More

    Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.
    Int J Dermatol 2016 May 17;55(5):524-30. Epub 2015 Nov 17.
    Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
    Background: Ichthyoses are clinically characterized by scaling or hyperkeratosis of the skin or both. It can be an isolated condition limited to the skin or appear secondarily with involvement of other cutaneous or systemic abnormalities.

    Methods: The present study investigated clinical and molecular characterization of three consanguineous families (A, B, C) segregating two different forms of autosomal recessive congenital ichthyosis (ARCI). Read More

    Triallelic Inheritance of TGM1 and ALOXE3 Mutations Associated with Severe Phenotype of Ichtyosis in an Iranian Family - A Case Report.
    Iran J Public Health 2015 Jul;44(7):1004-7
    Tehran Medical Genetics Laboratory, Taleghani Ave, Tehran, Iran.
    Lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. To date, seven causative genes for ARCI have been identified. To understand further the genetic spectrum of the disease, we analyzed a four-generation Iranian family with ARCI that had observable inheritance. 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

    Neuroactive molecules and growth factors modulate cytoskeletal protein expression during astroglial cell proliferation and differentiation in culture.
    J Neurosci Res 2016 Jan 15;94(1):90-8. Epub 2015 Oct 15.
    Department of Biomedical and Biotechnological Sciences, Section of Medical Biochemistry, University of Catania, Catania, Italy.
    Steroid hormones and neurotrophic factors regulate astroglial cell survival, proliferation, and differentiation in culture. The present study examines the interaction between glucocorticoids and growth factors (GFs) on cytoskeletal proteins and extracellular signal-regulated kinase 2 (ERK2) expression in stressed astroglial cultures at 25 days in vitro, according to the following experimental condition. Pretreatment with basic fibroblast growth factor alone or in combination with dexamethasone 10(-9) M for 48 hr induced an enhancement of glial fibrillary acidic protein, vimetin, and ERK2 expression. Read More

    Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.
    Clin Exp Dermatol 2016 Apr 12;41(3):279-82. Epub 2015 Oct 12.
    UMR 5165 CNRS-1056 INSERM-Université Toulouse III, 'Différenciation Epidermique et Autoimmunité Rhumatoïde', Hôpital Purpan, Toulouse, France.
    Autosomal recessive congenital ichthyosis (ARCI), a severe and highly clinically heterogeneous group of mendelian disorders of cornification, is the result of mutations in at least nine genes regulating the epidermal barrier functionality. NIPAL4 is the second most frequently mutated ARCI gene. We report two adult patients from a nonconsanguineous family of Romanian origin, who had lamellar ichthyosis. 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 Unique Case of JOAG With Lamellar Ichthyosis With Rickets: A Case Report and Review of the Literature.
    J Glaucoma 2016 Mar;25(3):e280-3
    *Glaucoma Services, Dr Rajendra Prasad Centre for Ophthalmic Sciences †Laboratory for Molecular Reproduction and Genetics, Department of Ophthalmology, All India Institute of Medical Sciences, New Delhi, India.
    Purpose: Ichthyosis is known to have ocular associations such as blepharitis, hypertrophic conjunctivitis, corneal vascularization, ectropion, lagophthalmos, etc. However, no reports of its association with glaucoma are there, to the best of our knowledge. We report a unique case of juvenile open-angle glaucoma (JOAG) with lamellar ichthyosis. Read More

    Hair and Scalp Disorders in a Tuscan Pediatric Dermatological Outpatient Clinic: A Clinical and Epidemiological Evaluation.
    Med Princ Pract 2016 1;25(1):67-71. Epub 2015 Oct 1.
    Section of Dermatology, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
    Objectives: The aim of this study was to evaluate the clinical and epidemiological profile of hair and scalp disorders in children referred to the Pediatric Dermatology Outpatient Clinic.

    Materials And Methods: We performed a retrospective study of children with hair loss problems or scalp diseases who turned to the Pediatric Dermatology Service, Anna Meyer Pediatric Hospital, Florence, Italy, from January 1, 2009, to December 31, 2009. Demographics, personal and familial medical history, laboratory tests, clinical examination, final diagnosis and therapeutic interventions were obtained from the manual chart review. Read More

    Scanning electron microscopy of the collodion membrane from a self-healing collodion baby.
    An Bras Dermatol 2015 Jul-Aug;90(4):581-4
    Empresa Brasileira de Pesquisa Agropecuária, Pelotas, RS, BR.
    Self-healing collodion baby is a well-established subtype of this condition. We examined a male newborn, who was covered by a collodion membrane. The shed membrane was examined with scanning electron microscopy. Read More

    Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.
    Int J Mol Sci 2015 Sep 9;16(9):21791-801. Epub 2015 Sep 9.
    Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, 221 Longwood Ave. EBRC 401, Boston, MA 02115, USA.
    Non-bullous congenital ichthyosiform erythroderma (NBCIE) is a hereditary disorder of keratinization caused by pathogenic variants in genes encoding enzymes important to lipid processing and terminal keratinocyte differentiation. Impaired function of these enzymes can cause pathologic epidermal scaling, significantly reduced skin barrier function. In this study, we have performed a focused, genetic analysis of a probrand affected by NBCIE and extended this to his consanguineous parents. 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

    Congenital Ichthyosis in 14 Great Dane Puppies With a New Presentation.
    Vet Pathol 2016 May 4;53(3):614-20. Epub 2015 Aug 4.
    Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany
    The present study describes a generalized congenital skin condition in 14 Great Dane puppies. Macroscopically, all dogs showed generalized gray to yellow scaling and skin wrinkles on the head and all 4 extremities. Skin sections were histologically examined using hematoxylin and eosin, Heidenhain's Azan, and Sudan red III staining methods and by conducting the alcian blue/periodic acid Schiff (AB/PAS) reaction technique on sections. Read More

    Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate.
    J Dermatol Case Rep 2015 Jun 30;9(2):49-51. Epub 2015 Jun 30.
    Neonatal Intensive Care Unit, V. Monaldi Hospital, Naples, Italy;
    Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene found in 50% of patients. An early diagnosis is fundamental in view of establishing a specific treatment due to the severity of the disease. Read More

    Is "milk crust" a transient form of golden retriever ichthyosis?
    Vet Dermatol 2015 Aug;26(4):265-e57
    Clinic for Small Animal Internal Medicine, Justus-Liebig-Universität, Frankfurter Straße 126, 35392, Giessen, Germany.
    Background: A recessive inherited form of lamellar ichthyosis is well recognized in golden retrievers. In this breed, young puppies demonstrate a self-limiting scaling disorder which is commonly recognized by breeders, who use the term "milk crust" to describe this syndrome.

    Hypothesis/objectives: To determine whether "milk crust" is a new keratinization disorder or a self-limiting form of golden retriever ichthyosis. Read More

    Topical tacrolimus for atopic dermatitis.
    Cochrane Database Syst Rev 2015 Jul 1(7):CD009864. Epub 2015 Jul 1.
    Department of Dermatology, Universidade Federal de São Paulo, Wagih Assad Abdalla 172, São Paulo, São Paulo, Brazil, 05651-020.
    Background: Atopic dermatitis (AD) (or atopic eczema) is a chronic inflammatory skin condition that affects children and adults and has an important impact on quality of life. Topical corticosteroids (TCS) are the first-line therapy for this condition; however, they can be associated with significant adverse effects when used chronically. Tacrolimus ointment (in its 2 manufactured strengths of 0. 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
    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

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