Search our Database of Scientific Publications and Authors

I’m looking for a

    1025 results match your criteria Ichthyosis Lamellar

    1 OF 21

    Ectropion Improvement with Topical Tazarotene in Children with Lamellar Ichthyosis.
    Pediatr Dermatol 2017 Sep 17;34(5):584-589. Epub 2017 Aug 17.
    Department of Dermatology, University of Minnesota, Minneapolis, Minnesota.
    Background/objectives: Lamellar ichthyosis (LI) is a well-described phenotypic subtype of autosomal recessive congenital ichthyosis (ARCI). The condition typically presents at birth with collodion membrane and leads to thick, plate-like scaling of the skin throughout the body, alopecia, and prominent ocular manifestations. Ocular complications include bilateral cicatricial ectropion and lagophthalmos. Read More

    Dry eye and Meibomian gland dysfunction with meibography in patients with lamellar ichthyosis.
    Cont Lens Anterior Eye 2017 Jun 20. Epub 2017 Jun 20.
    Ege University Faculty of Medicine, Department of Ophthalmology, Turkey.
    Purpose: To evaluate the dry eye findings and Meibomian gland dysfunction as demonstrated with meibography in patients with lamellar ichthyosis.

    Methods: Twenty-four eyes of 12 patients with lamellar ichthyosis (Group 1) and twenty-four eyes of 12 healthy individuals (Group 2) were enrolled. Comprehensive eye examination along with corneal and conjunctival fluorescein staining with Oxford scoring, tear film break-up time, Schirmer 1 test, ocular surface disease index (OSDI) score assessment, and evaluation of upper and lower eyelid Meibomian glands using infrared filter of slit-lamp biomicroscope (SL-D701, TOPCON, Tokyo, Japan) were performed. Read More

    al mena: a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations.
    J Hum Genet 2017 Jun 22. Epub 2017 Jun 22.
    GN Ramachandran Knowledge Center for Genome Informatics, CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
    Middle East and North Africa (MENA) encompass very unique populations, with a rich history and encompasses characteristic ethnic, linguistic and genetic diversity. The genetic diversity of MENA region has been largely unknown. The recent availability of whole-exome and whole-genome sequences from the region has made it possible to collect population-specific allele frequencies. Read More

    Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
    Am J Hum Genet 2017 Jun;100(6):926-939
    Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany. Electronic address:
    Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for ARCI have been discovered to date. Read More

    Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
    JAMA Dermatol 2017 Jun;153(6):537-543
    Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut10Department of Genetics, Yale University School of Medicine, New Haven, Connecticut11Department of Pathology, Yale University School of Medicine, New Haven, Connecticut.
    Importance: Bathing suit ichthyosis (BSI) is a rare congenital disorder of keratinization characterized by restriction of scale to sites of relatively higher temperature such as the trunk, with cooler areas remaining unaffected. Fewer than 40 cases have been reported in the literature. Bathing suit ichthyosis is caused by recessive, temperature-sensitive mutations in the transglutaminase-1 gene (TGM1). 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

    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

    Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
    J Clin Invest 2017 Mar 6;127(3):912-928. Epub 2017 Feb 6.
    Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. 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

    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

    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

    Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
    J Invest Dermatol 2017 Mar 21;137(3):678-685. Epub 2016 Nov 21.
    Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:
    Autosomal recessive congenital ichthyosis is a heterogeneous group of disorders associated with mutations in at least nine distinct genes. To ascertain the molecular basis of ichthyosis patients in Iran, a country of approximately 80 million people with a high prevalence of customary consanguineous marriages, we have developed a gene-targeted next generation sequencing array consisting of 38 genes reported in association with ichthyosis phenotypes. In a subset of nine extended consanguineous families, we found homozygous missense mutations in the PNPLA1 gene, six of them being distinct and, to our knowledge, previously unpublished. 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


    Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.
    Int J Dermatol 2016 Jun 7;55(6):673-9. Epub 2016 Apr 7.
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
    Background: Autosomal recessive congenital ichthyosis (ARCI) is a rare disorder of keratinization. Infants (10-15%) born with this condition are encapsulated in hyperkeratotic membrane covering the entire body and are called "collodion babies." So far, mutations in nine different genes have been identified as causative and implicated in the pathogenesis of the clinically and genetically heterogeneous group of ARCI disorders. 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

    Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.
    Clin Exp Dermatol 2016 Jun 1;41(4):390-3. Epub 2015 Dec 1.
    Department of Dermatology, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
    Consanguinity is known to be associated with an increase in the prevalence of autosomal recessive disorders such as autosomal recessive congenital ichthyosis (ARCI). ARCI often responds well to retinoid treatment. We describe a patient with ARCI who improved under isotretinoin treatment. 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

    1 OF 21