1,190 results match your criteria Ichthyosis Lamellar

Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.

Hum Mutat 2021 Aug 15;42(8):1015-1029. Epub 2021 Jun 15.

School of Biotechnology, Madurai Kamaraj University, Madurai, India.

Mutations in ALDH3A2 cause Sjögren-Larsson syndrome (SLS), a neuro-ichthyotic condition due to the deficiency of fatty aldehyde dehydrogenase (FALDH). We screened for novel mutations causing SLS among Indian ethnicity, characterized the identified mutations in silico and in vitro, and retrospectively evaluated their role in phenotypic heterogeneity. Interestingly, asymmetric distribution of nonclassical traits was observed in our cases. Read More

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Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos.

Mol Ther 2021 May 8. Epub 2021 May 8.

Department of Reproductive Center, Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai 201203, China. Electronic address:

A couple diagnosed as the carrier for Lamellar ichthyosis, an autosomal recessive rare disease, encountered two times pregnancy losses. Their blood samples showed the same heterozygous c.607C> T mutation in the TGM1 gene. Read More

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The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.

Acta Derm Venereol 2021 Jun 22;101(6):adv00477. Epub 2021 Jun 22.

IDI-IRCCS (Istituto Dermopatico dell'Immacolata-Istituto di Ricovero e Cura a Carattere Scientifico, Dermatological Research Hospital), Via Monti di Creta 104, IT-00167 Rome, Italy.

Autosomal recessive congenital ichthyoses (ARCI) are characterized by generalized skin scaling, hyperkeratosis, erythroderma, and disabling features affecting the skin (palmoplantar keratoderma, fissures, pain, itch), eyes, ears, and joints. Disease severity and chronicity, patient disfigurement, and time and costs required for care impose a major burden on quality of life. This multicentre cross-sectional study investigated the impact of ARCI on quality of life of patients and families, using the Dermatology Life Quality Index (DLQI), the Children DLQI (CDLQI) and Family Burden of Ichthyosis (FBI) questionnaires. Read More

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Autosomal recessive congenital ichthyoses (ARCI) in a "bathing-suit" distribution: progression over time.

Int J Dermatol 2021 Aug 12;60(8):e296-e297. Epub 2021 Apr 12.

Department of Dermatology, Universitätsklinikum Freiburg, Freiburg, Germany.

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Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

Exp Dermatol 2021 Mar 31. Epub 2021 Mar 31.

Division of Dermatology and Pediatric Dermatology Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole-exome and direct sequencing to delineate the relative distribution of pathogenic variants as well as identify genotype-phenotype correlations in a cohort of 62 Middle Eastern families with ARCI of various ethnic backgrounds. Read More

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Trifarotene: A Current Review and Perspectives in Dermatology.

Biomedicines 2021 Feb 26;9(3). Epub 2021 Feb 26.

Dermatology Unit, Department of Systems Medicine, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.

Retinoids have numerous applications in inflammatory, dyskeratotic, and oncohematology diseases. Retinoids have now reached the fourth generation, progressively reducing toxicity whilst increasing their efficacy. Trifarotene is a new fourth-generation retinoid with a selective action on RAR-γ. Read More

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February 2021

Two Italian Patients with -Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.

Genes (Basel) 2021 02 26;12(3). Epub 2021 Feb 26.

Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) is a fatty acid elongase responsible for very long-chain fatty acid biosynthesis in the brain, retina, and skin. Heterozygous mutations in gene cause Stargardt-like macular dystrophy and spinocerebellar ataxia type-34, while different homozygous mutations have been associated with ichthyosis, spastic quadriplegia, and mental retardation syndrome in three kindred. We report the first two Italian children affected with neuro-ichthyosis due to the previously undescribed homozygous frameshift variant c. Read More

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February 2021

Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report.

Ann Transl Med 2021 Jan;9(2):183

Seven Section of Department of Gynaecology, the Second Hospital of Hebei Medical University, Shijiazhuang, China.

Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogeneous group of skin disorders, including harlequin ichthyosis (HI), lamellar ichthyosis, and bullous congenital ichthyosiform erythroderma. HI is the most phenotypically severe autosomal recessive congenital ichthyosis associated with the mutation of the adenosine triphosphate-binding cassette subfamily A member 12 () gene. The clinical manifestations include generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, and contractures. Read More

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January 2021

Lipid Metabolic Events Underlying the Formation of the Corneocyte Lipid Envelope.

Philip W Wertz

Skin Pharmacol Physiol 2021 10;34(1):38-50. Epub 2021 Feb 10.

University of Iowa, Iowa City, Iowa, USA,

Cornified cells of the stratum corneum have a monolayer of an unusual lipid covalently attached to the outer surface. This is referred to as the corneocyte lipid envelope (CLE). It consists of a monolayer of ω-hydroxyceramides covalently attached to the outer surface of the cornified envelope. Read More

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February 2021

Corneal ulcer secondary to ectropion in lamellar Ichthyosis: A rare congenital disorder.

Saudi J Ophthalmol 2020 Jan-Mar;34(1):59-61. Epub 2020 Nov 22.

Department of Ophthalmology, BARC Hospital, Mumbai, India.

We present a rare case of Lamellar Ichthyosis with bilateral ectropion with left sided corneal ulcer with descemetocele in a four-month-old female child, the youngest ever reported. Ichthyosis is a group of skin disorders characterized by the presence of fish-like scales all over the body (Mushriff, 2016; Turgut ., 2009). Read More

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November 2020

Comprehensive stratum corneum ceramide profiling reveals reduced acylceramides in ichthyosis patient with CERS3 mutations.

J Dermatol 2021 Apr 25;48(4):447-456. Epub 2021 Jan 25.

Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan.

The stratum corneum (SC) of the epidermis acts as a skin permeability barrier, and abnormalities in SC formation lead to several skin disorders. Lipids, especially the epidermis-specific ceramide classes ω-O-acylceramides (acylceramides) and protein-bound ceramides, are essential for skin barrier formation. Ceramide synthase 3 (CERS3) is involved in the synthesis of acylceramides and protein-bound ceramides, and CERS3 mutations cause autosomal recessive congenital ichthyosis. Read More

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[Lid manifestations of lamellar ichthyosis].

J Fr Ophtalmol 2021 May 21;44(5):759-760. Epub 2021 Jan 21.

Service d'ophtalmologie, CHU de Mohamed VI, 53, Assif, Marrakech, Morocco.

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Meta-Analysis of Mutations in or Identified in a Large Cohort of 224 Patients.

Genes (Basel) 2021 01 9;12(1). Epub 2021 Jan 9.

Department of Medical Sciences/Dermatology, Uppsala University, SE-751 85 Uppsala, Sweden.

The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: , , , , , , , , , and . The main focus of this report is the mutational spectrum of the genes and , which encode the epidermal lipoxygenases arachidonate 12-lipoxygenase, i. Read More

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January 2021

Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases.

Acta Derm Venereol 2021 Mar 9;101(3):adv00408. Epub 2021 Mar 9.

Dermatology Department, Reference Center for Rare Skin Diseases, CHU Larrey, Université Paul Sabatier, FR-31000 Toulouse, France. E-mail:

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Ectropion surgery might not be a long-term solution for harlequin ichthyosis.

Dermatol Ther 2021 01 8;34(1):e14646. Epub 2021 Jan 8.

Department of Dermatology, St George Hospital, University of NSW Medicine, Sydney, NSW, Australia.

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January 2021

Increased risk of depression and impairment in quality of life in patients with lamellar ichthyosis.

Dermatol Ther 2021 01 14;34(1):e14628. Epub 2020 Dec 14.

Facultad de Medicina, Universidad Veracruzana, Veracruz, Mexico.

Lamellar ichthyosis (LI) is a genetic skin disorder characterized by dark brown scales, palmoplantar hyperkeratosis, pain, and itching. LI severity could have implications in psychological aspects, causing depression and impairment in the quality of life (QoL) of patients. In this study, we used the Congenital Ichthyosis Severity Index, the Depression Beck Inventory-II (DBI-II), and the Dermatologic Life Quality Index (DLQI) to assess severity, level of depression, and impairment in QoL in a group of patients with LI. Read More

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January 2021

Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents.

Pediatr Dermatol 2021 Jan 10;38(1):164-180. Epub 2020 Nov 10.

Departments of Dermatology and Pediatrics, University of California, San Francisco, San Francisco, CA, USA.

Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for long-term use of retinoids for these disorders, often beginning in childhood, numerous clinical concerns must be considered. Systemic retinoids have known side effects involving bone and eye. Read More

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January 2021

Combined medical and surgical management for cicatricial ectropion in lamellar ichthyosis: A report of three cases.

Indian J Ophthalmol 2020 Nov;68(11):2615-2617

Orbit Oculoplasty Reconstructive and Aesthetic Services, Aditya Birla Sankara Nethralaya, (A Unit of Medical Research Foundation, Chennai), Kolkata, West Bengal, India.

Ichthyosis is a rare inherited skin disorder characterized by abnormal keratinization of the epidermis. Cicatricial ectropion is the most common ophthalmic feature of congenital ichthyosis. Progressive subepithelial cicatrization and abnormal cornification of eyelid skin cause progressive ectropion in both eyelids, leading to lagophthalmos and corneal exposure. Read More

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November 2020

Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations.

J Dermatol Sci 2021 Jan 6;101(1):69-71. Epub 2020 Oct 6.

Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan. Electronic address:

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January 2021

Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis.

Acta Derm Venereol 2020 Oct 6;100(17):adv00285. Epub 2020 Oct 6.

Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, 683-8504 Yonago, Japan. E-mail:

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October 2020

[Analysis of PNPLA1 gene mutation in a child with ichthyosis].

Han Li Lixing Qiao

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Oct;37(10):1136-1138

Zhongda Hospital Affiliated to Southeast University, Nanjing, Jiangsu 210009, China.

Objective: To explore the genetic basis for a child with ichthyosis.

Methods: High-throughput sequencing was carried out to detect genomic copy number variants (CNVs) and variant of the medical exome. Candidate variant was verified by Sanger sequencing. Read More

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October 2020

Harlequin ichthyosis from birth to 12 years.

BMJ Case Rep 2020 Aug 26;13(8). Epub 2020 Aug 26.

Paediatrics, Royal Oldham Hospital, Manchester, UK.

A neonate was born with generalised, erythrodermic, thick, fissured skin, severe ectropion, hypoplastic auricles and limb abnormalities. A clinical diagnosis of harlequin ichthyosis was made, allowing supportive therapies to be commenced promptly. Oral acitretin was initiated on day 3 of life, complemented by an intensive skin care regimen. Read More

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Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.

Am J Med Genet A 2020 10 11;182(10):2214-2221. Epub 2020 Aug 11.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

Acrodysostosis refers to a rare heterogeneous group of bone dysplasias that share skeletal features, hormone resistance, and intellectual disability. Two genes have been associated with acrodysostosis with or without hormone resistance (PRKAR1A and PDE4D). Severe intellectual disability has been reported with acrodysostosis but brain malformations and ichthyosis have not been reported in these syndromes. Read More

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October 2020

Mild lamellar ichthyosis with a truncated homozygous TGM1 mutation in a pediatric patient from Turkey.

Dermatol Ther 2020 11 6;33(6):e14152. Epub 2020 Sep 6.

Department of Dermatology, University of Health Sciences Ankara Research and Training Hospital, Ankara, Turkey.

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November 2020

Harlequin Fetus in a Twin Pregnancy: An Extremely Rare Presentation.

J Coll Physicians Surg Pak 2020 Jun;30(6):652-654

Department of Dermatology, Combined Military Hospital, Malir Cantt, Karachi, Pakistan.

Harlequin ichthyosis (HI) is a rare fatal type of congenital ichthyosis with autosomal recessive inheritance pattern. We report an uncommon presentation of a case of HI in a neonate, who was the second outcome of the dizygotic twin pregnancy of a Pakistani female. Whilst the first twin remained alive and healthy, HI baby was not able to survive beyond the third day of her life. Read More

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Sight-threatening Complication of Cicatricial Ectropion in a Patient with Lamellar Ichthyosis - Case Report.

Acta Dermatovenerol Croat 2020 Jul;28(1):29-33

Natália Rybárová, MD, Oční klinika FN Brno, Jihlavská 20, 625 00 Brno, Czech Republic;

We report a case of lamellar ichthyosis and sight-threatening complications of cicatricial ectropion in an adult male patient which was surgically managed with tectonic penetrating keratoplasty. We present a case of autosomal-recessive lamellar ichthyosis in a 47-year-old man who was referred to our outpatient eye clinic for treatment of primary keratouveitis of the right eye with keratolysis and exudation in the anterior chamber. A diagnosis of cicatricial ectropion with serious lagophthalmos was established on examination. Read More

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Oral manifestations of lamellar ichthyosis in association with rickets.

BMJ Case Rep 2020 Jul 8;13(7). Epub 2020 Jul 8.

Centre for Dental Education and Research, AIIMS, New Delhi, India

Lamellar ichthyosis (LI) is a rare genetic condition that affects the skin, with an incidence of less than 1:300 000 in different parts of the world. This report describes a case of a 5-year-old girl with LI and rickets presenting with premature loss of 51, 52, 61, 62 and 71, grade II mobility in 72, 73, 81, 82 and 83 along with loss of supporting bone with 53, 63, 72, 73, 82 and 83. This is the first report describing oral manifestations of this combination of LI and rickets. Read More

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Response of short-term high-dose vitamin D therapy in lamellar ichthyosis: A rare case report.

Dermatol Ther 2020 11 5;33(6):e13927. Epub 2020 Aug 5.

Department of Dermatology, Venereology and Leprosy, All India Institute of Medical Sciences, Rishikesh, India.

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November 2020

Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.

J Biomol Struct Dyn 2020 Jun 29:1-11. Epub 2020 Jun 29.

Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.

Lamellar ichthyosis (LI) is a rare inherited disease where affected infants present a extensive skin scaling characterized by hyperkeratosis. Inherited mutations in the Transglutaminase 1 (TGM1) protein is one of the known causative genetic factor for the LI. The main objective of this study is to explore the impact of LI causative missense mutations on the structural and stability aspects of TGM1 protein using structural modeling, molecular docking and molecular dynamics approaches. Read More

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Recurrent KRT10 Variant in Ichthyosis with Confetti.

Acta Derm Venereol 2020 Jul 2;100(14):adv00209. Epub 2020 Jul 2.

Department of Dermatology, Nagoya University Graduate School of Medicine, 466-8550 Nagoya, Japan. E-mail:

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