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    1044 results match your criteria Ichthyosis Lamellar

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    Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin) Deficient Canines.
    Am J Pathol 2018 Mar 13. Epub 2018 Mar 13.
    Dermatology Service, VA Medical Center, San Francisco and Department of Dermatology, UC San Francisco, San Francisco, California. Electronic address:
    Mutations in several lipid synthetic enzymes that block fatty acid and ceramide production produce autosomal recessive congenital ichthyosis (ARCI) and associated abnormalities in permeability barrier homeostasis. Yet, the basis for the phenotype in patients with NIPAL4 (ichthyin) mutations (among the most prevalent ARCI) remains unknown. Barrier function was abnormal in an index patient and in canines with homozygous NIPAL4 mutations, attributable to extensive membrane stripping, likely from detergent effects of nonesterified free FFA. Read More

    VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.
    Biochim Biophys Acta 2018 Jan 31;1864(5 Pt A):1609-1621. Epub 2018 Jan 31.
    MRC Laboratory for Molecular Cell Biology, University College London, London WC1E 6BT, UK; Institute of Child Health, University College London, London WC1N 1EH, UK; Inherited Metabolic Diseases Unit, Great Ormond Street Hospital, London WC1N 3JH, UK. Electronic address:
    Mutations in VPS33B and VIPAS39 cause the severe multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome. Amongst other symptoms, patients with ARC syndrome suffer from severe ichthyosis. Roles for VPS33B and VIPAR have been reported in lysosome-related organelle biogenesis, integrin recycling, collagen homeostasis and maintenance of cell polarity. Read More

    Particularities of the management and the treatment in a rare sepsis with Candida tropicalis of a Collodion baby: Case report.
    Medicine (Baltimore) 2017 Dec;96(51):e9387
    University of Medicine and Pharmacy "Gr. T. Popa".
    Rationale: Collodion baby is a rare autosomal recessive disorder. It can be the first expression of some forms of ichthyosis.

    Patient Concerns: The authors present the case of a newborn diagnosed with severe Collodion baby syndrome who required prolonged hospitalization in the intensive care unit because of infectious complications like the fungal sepsis and other bacterial superinfections. Read More

    Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis.
    Ophthal Plast Reconstr Surg 2018 01 17. Epub 2018 Jan 17.
    Department of Ophthalmology, School of Medicine, West Virginia University.
    Ichthyosis is a cutaneous disorder characterized by excessive amounts of dry thickened skin surface scales. Ocular manifestations of ichthyosis include cicatricial ectropion, which may cause exposure keratoconjunctivitis and rarely corneal perforation. Topical emollients, anti-inflammatory ointments, and systemic retinoids have been used to control the disease process, while surgical correction with donor graft has been reserved for severe cases involving corneal exposure. Read More

    Severe ectropion in lamellar ichthyosis managed medically with oral acitretin.
    Pediatr Dermatol 2018 Jan 15. Epub 2018 Jan 15.
    Department of Ophthalmology, Sri Guru Ram Das Institute of Medical Sciences and Research, Amritsar, India.
    Congenital ectropion is commonly associated with lamellar ichthyosis. Severe eyelid ectropion may cause corneal exposure, keratopathy, and permanent corneal scarring. We report a neonate with severe, bilateral, congenital ectropion and eclabium managed using oral retinoids. Read More

    Clinico-epidemiological Study of Congenital Ichthyosis in a Tertiary Care Center of Eastern India.
    Indian J Dermatol 2017 Nov-Dec;62(6):606-611
    Department of Dermatology, Venereology and Leprosy, IPGMER and SSKM Hospital, Kolkata, West Bengal, India.
    Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes. There is scanty data regarding the demographic profile and clinical features of patients with congenital ichthyosis in India. Read More

    Elucidation of the Synthetic Mechanism of Acylceramide, an Essential Lipid for Skin Barrier Function.
    Yakugaku Zasshi 2017 ;137(10):1201-1208
    Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University.
    The primary function of the skin is to act as a permeability barrier that prevents water loss from inside the body and external invasion such as by pathogens, harmful substances, and allergens. Lipids play a critical role in skin barrier formation by forming multi-lamellar structures in the stratum corneum, the outermost cell layer of the epidermis. Ceramide, the backbone of sphingolipids, accounts for more than 50% of the stratum corneum lipids. Read More

    Acitretin Use in Dermatology.
    J Cutan Med Surg 2017 Nov/Dec;21(3_suppl):2S-12S. Epub 2017 Sep 27.
    9 University of Calgary, Calgary, AB, Canada.
    Background: Acitretin has been used for the treatment of severe psoriasis for over 20 years.

    Objective: The current project was conceived to optimise patient care by recognising the role acitretin can play in the treatment of patients with psoriasis and those with other disorders of keratinisation.

    Methods: A literature review was conducted to explore the role of acitretin and to assess its value for dermatologic disorders other than severe psoriasis. Read More

    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 2018 Apr 20;41(2):154-156. 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 Oct 22;62(10):889-894. 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

    PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.
    Hum Mol Genet 2017 05;26(10):1787-1800
    Unité Différenciation Epithéliale et Autoimmunité Rhumatoïde (UDEAR), UMR 1056 Inserm - Université de Toulouse, Place du Dr Baylac, Hôpital Purpan, TSA 40031, F-31059 Toulouse, Cedex 9, France.
    Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of monogenic genodermatoses that encompasses non-syndromic disorders of keratinization. The pathophysiology of ARCI has been linked to a disturbance in epidermal lipid metabolism that impaired the stratum corneum function, leading to permeability barrier defects. Functional characterization of some genes involved in ARCI contributed to the identification of molecular actors involved in epidermal lipid synthesis, transport or processing. Read More

    Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
    Int J Dermatol 2017 May 24;56(5):514-523. Epub 2017 Feb 24.
    Centre for Arab Genomic Studies, Dubai, UAE.
    Background: Clinical and molecular heterogeneity is a prominent characteristic of congenital ichthyoses, with the involvement of numerous causative loci. Mutations in these loci feature in autosomal recessive congenital ichthyoses (ARCIs) quite variably, with certain genes/mutations being more frequently uncovered in particular populations.

    Methods: In this study, we used whole exome sequencing as well as direct Sanger sequencing to uncover four novel mutations in ARCI-related genes, which were found in families from the United Arab Emirates. 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

    Expanding the Mutation Spectrum of Ichthyosis with Confetti.
    J Invest Dermatol 2016 Oct;136(10):1941-1943
    Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address:
    Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized by the development of white, genetically revertant macules in red, diseased skin. All cases result from mutations affecting the tail domains of keratin-10 or keratin-1, and Suzuki et al. expand the mutation spectrum for ichthyosis with confetti caused by mutations in KRT1, showing that a polyarginine frameshift in the keratin-1 tail can also cause this disorder. 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, 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

    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

    [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

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