1,085 results match your criteria Ichthyosis Lamellar


LICHENOID FOLLICULITIS OF THE SCALP IN FOUR PATIENTS WITH ICHTHYOSIFORM SKIN DISORDERS AND CICATRICIAL ALOPECIA.

J Cutan Pathol 2019 Feb 7. Epub 2019 Feb 7.

Department of Dermatology, Federal Fluminense University, Antonio Pedro University Hospital, Marques de Parana Avenue, Niteroi, 24220-900, Brazil.

Ichthyosis is a heterogeneous group of inherited skin disorders characterized by a defect of keratinization. Patients diagnosed with lamellar ichthyosis (LI) and some ichthyosiform syndromes, such as the Conradi-Hünermann-Happle syndrome (CHHS), usually present with hair loss. Even though only few dermatologic complaints carry as many emotional overtones as hair loss, there is extremely little data available in the literature regarding scalp histopathologic features on ichthyosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cup.13439DOI Listing
February 2019
1 Read

Non-invasive analysis of skin mechanical properties in patients with lamellar ichthyosis.

Skin Res Technol 2019 Jan 2. Epub 2019 Jan 2.

Facultad de Medicina, Universidad Veracruzana, Ciudad Mendoza, México.

Background: Reliable methods for the quantitative evaluation of skin of patients with ichthyosis are critically needed. Our purpose was to evaluate the biomechanical parameters of skin in a cohort of patients with clinically diagnosed lamellar ichthyosis.

Materials And Methods: Twenty-two patients diagnosed with lamellar ichthyosis were studied. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/srt.12663
Publisher Site
http://dx.doi.org/10.1111/srt.12663DOI Listing
January 2019
4 Reads

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.

Mol Genet Genomic Med 2019 Jan 1:e539. Epub 2019 Jan 1.

Department of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, UK.

Background: Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified, but a clear correlation between genetic causes and clinical picture has not been described to date.

Methods: Our study included 19 families from Saudi Arabia, Yemen, and Pakistan. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mgg3.539
Publisher Site
http://dx.doi.org/10.1002/mgg3.539DOI Listing
January 2019
1 Read

Transglutaminase diseases: from biochemistry to the bedside.

FASEB J 2019 Jan;33(1):3-12

Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.

In humans, 9 members of the transglutaminase (TG) family have been identified, of which 8 [factor XIII (FXIII)A and TG1-TG7] catalyze post-translational protein-modifying reactions, and 1 does not (protein 4.2). The TG enzymatic activities considered in our discussion of human disease include deamidation of glutamine (Gln) residues, amine incorporation into Gln residues, and protein crosslinking. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1096/fj.201801544RDOI Listing
January 2019
1 Read

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.

Hum Mutat 2019 Mar 16;40(3):288-298. Epub 2019 Jan 16.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.

Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of non-syndromic Mendelian disorders of keratinization, is caused by mutations in as many as 13 distinct genes. We examined a cohort of 125 consanguineous families with ARCI for underlying genetic mutations. The patients' DNA was analyzed with a gene-targeted next generation sequencing panel comprising 38 ichthyosis associated genes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23695DOI Listing
March 2019
2 Reads
5.144 Impact Factor

Erosive pustular dermatosis of the scalp associated with lamellar ichthyosis successfully treated with dehydrated human amnion/chorion membrane allograft.

JAAD Case Rep 2018 Nov 14;4(10):1059-1061. Epub 2018 Nov 14.

Department of Medicine, Division of Dermatology, University of Arizona, Tucson, Arizona.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdcr.2018.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250890PMC
November 2018
1 Read

Mutations in Recessive Congenital Ichthyoses Illuminate the Origin and Functions of the Corneocyte Lipid Envelope.

J Invest Dermatol 2018 Nov 22. Epub 2018 Nov 22.

Dermatology Service, Veterans Affairs Medical Center, San Francisco, California, USA; Department of Dermatology, University of California-San Francisco, San Francisco, California, USA. Electronic address:

The corneocyte lipid envelope (CLE), a monolayer of ω-hydroxyceramides whose function(s) remain(s) uncertain, is absent in patients with autosomal recessive congenital ichthyoses with mutations in enzymes that regulate epidermal lipid synthesis. Secreted lipids fail to transform into lamellar membranes in certain autosomal recessive congenital ichthyosis epidermis, suggesting the CLE provides a scaffold for the extracellular lamellae. However, because cornified envelopes are attenuated in these autosomal recessive congenital ichthyoses, the CLE may also provide a scaffold for subjacent cornified envelope formation, evidenced by restoration of cornified envelopes after CLE rescue. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2018.11.005DOI Listing
November 2018
11 Reads

Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis.

J Dermatol 2018 Dec 10;45(12):1463-1467. Epub 2018 Oct 10.

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

TGM1 is the most common gene responsible for lamellar ichthyosis. Previous studies have suggested that patients with lamellar ichthyosis carrying two missense mutations in TGM1 show significantly less severe phenotypes than those with at least one truncating mutation in TGM1. Here, we report a patient with severe lamellar ichthyosis who was compound heterozygous for TGM1 missense mutations, including a novel one. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/1346-8138.14675
Publisher Site
http://dx.doi.org/10.1111/1346-8138.14675DOI Listing
December 2018
9 Reads

Results of a nationwide epidemiologic survey of autosomal recessive congenital ichthyosis and ichthyosis syndromes in Japan.

J Am Acad Dermatol 2018 Sep 26. Epub 2018 Sep 26.

Department of Dermatology and Allergology, Juntendo University Graduate School of Medicine, Tokyo, Japan.

Background: Autosomal recessive congenital ichthyosis (ARCI) and ichthyosis syndrome (IS) are rare genetic skin disorders.

Objective: To estimate the number of patients with ARCI and IS in Japan and clarify the clinicoepidemiologic features of these diseases.

Methods: We performed a nationwide survey of patients treated for ARCI or IS during January 2005-December 2009. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01909622183236
Publisher Site
http://dx.doi.org/10.1016/j.jaad.2018.07.056DOI Listing
September 2018
16 Reads

Cross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup.

J Dermatol Sci 2018 Nov 11;92(2):127-133. Epub 2018 Sep 11.

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8560, Japan. Electronic address:

Background: Congenital ichthyoses (CIs) adversely affect quality of life (QOL) in patients. However, the effects of CIs on patient QOL have not been studied sufficiently.

Objective: To investigate the association between disease severity and QOL in patients with harlequin ichthyosis (HI) and ichthyosis: syndromic forms (ISFs) METHODS: Clinical information of patients with HI and ISFs from 2010 to 2015 were obtained from 100 dermatology departments/divisions of principal institutes/hospitals throughout Japan. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdermsci.2018.08.008DOI Listing
November 2018
4 Reads

An atypical presentation of herpes simplex virus infection in Harlequin ichthyosis.

Pediatr Dermatol 2018 Nov 31;35(6):e400-e401. Epub 2018 Aug 31.

Division of Dermatology, University of Washington, Seattle, Washington, USA.

We present an atypical presentation of herpes simplex virus infection in a patient with Harlequin ichthyosis, which we attribute to abnormal cornification. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13627DOI Listing
November 2018
1 Read

Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus.

J Glob Infect Dis 2018 Jul-Sep;10(3):166-168

Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

Extrapulmonary manifestations of tuberculosis (TB) are particularly frequent during childhood, and usually involve the lymph nodes and the skull. They are related to predisposing immunosuppression conditions. A patient affected by diabetes mellitus type 1 (DMT1) and congenital lamellar ichthyosis type 3 came at our attention with a 4-year history of recurrent parotitis and severe back pain and inferior limb hypomobility, which had lasted for 6 months. Read More

View Article

Download full-text PDF

Source
http://www.jgid.org/text.asp?2018/10/3/166/238707
Publisher Site
http://dx.doi.org/10.4103/jgid.jgid_82_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6100339PMC
September 2018
9 Reads

Collodion baby case series: the success of oral retinoic acid.

Turk Pediatri Ars 2018 Mar 1;53(1):51-56. Epub 2018 Mar 1.

Mersin Women's and Children's Hospital, Neonatal Intensive Care Unit, Mersin, Turkey.

Ichthyosis is a clinical skin cornification disorder characterized by hyperkeratosis. Lamellar ichthyosis is a rare form of ichthyosis (collodion baby), which is autosomal recessive. Diagnostic clinical findings can be confirmed with skin biopsy and genetic analysis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5152/TurkPediatriArs.2018.3704DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070221PMC

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Hum Mutat 2018 Oct 7;39(10):1305-1313. Epub 2018 Aug 7.

Faculty of Medicine, Institute of Human Genetics, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of keratinization characterized by generalized abnormal scaling of the skin. Ten genes are currently known to be associated with ARCI: TGM1, ALOXE3, ALOX12B, NIPAL4 (ICHTHYIN), ABCA12, CYP4F22, PNPLA1, CERS3, SDR9C7, and SULT2B1. Over a period of 22 years, we have studied a large patient cohort from 770 families with a clinical diagnosis of ARCI. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23594DOI Listing
October 2018
3 Reads
5.144 Impact Factor

Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family.

Taiwan J Obstet Gynecol 2018 Jun;57(3):452-455

Department of Fetal Medicine and Prenatal Diagnosis, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, China; Obstetrics & Gynecology Institute of Guangzhou, Guangzhou, 510150, China; The Medical Centre for Critical Pregnant Women in Guangzhou, Guangzhou, 510150, China; Key Laboratory for Major Obstetric Diseases of Guangdong Province, Guangzhou, 510150, China. Electronic address:

Objective: Harlequin ichthyosis (HI) was the most severe form of ichthyoses, which leaded to neonatal death in 50% of cases. It was the result of mutations in ABCA12 gene. With the development of ultrasound skills and genetic analysis, HI could be prenatal diagnosed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tjog.2018.04.023DOI Listing
June 2018
3 Reads

Ichthyosis molecular fingerprinting shows profound T17 skewing and a unique barrier genomic signature.

J Allergy Clin Immunol 2019 Feb 24;143(2):604-618. Epub 2018 May 24.

Department of Dermatology and the Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Laboratory for Investigative Dermatology, Rockefeller University, New York, NY. Electronic address:

Background: Ichthyoses are a group of rare skin disorders lacking effective treatments. Although genetic mutations are progressively delineated, comprehensive molecular phenotyping of ichthyotic skin could suggest much-needed pathogenesis-based therapy.

Objective: We sought to profile the molecular fingerprint of the most common orphan ichthyoses. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2018.03.021DOI Listing
February 2019
17 Reads

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis.

Indian J Ophthalmol 2018 06;66(6):856-858

Department of Ophthalmology, JNMC, Belagavi, Karnataka, India.

Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous marriage, presented with 4 days' history of redness, discharge, and swelling in the right eye. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijo.IJO_1171_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5989517PMC

High frequency of primary hereditary ichthyoses in the North-East region of Cairo, Egypt.

Postepy Dermatol Alergol 2018 Apr 24;35(2):161-166. Epub 2018 Apr 24.

Dermatology, Venereology and Andrology Department, Ain Shams University, Cairo, Egypt.

Introduction: Inherited ichthyoses are caused by mutations in various genes important for keratinocyte differentiation and epidermal barrier function. Although ichthyoses are rare disorders, they require costly long-term medical management, and thus there is a need for efficient preventive and therapeutic strategies.

Aim: We performed a retrospective study to determine the frequency, types, clinical presentation and associated genomic errors of primary hereditary ichthyoses in Egyptian patients and their relatives consulting the Genetics Clinic, Pediatric Hospital, Ain Shams University. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5114/ada.2018.75238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949546PMC
April 2018
1 Read

Long-term safety and efficacy of continuous acitretin monotherapy for three children with different severe hyperkeratotic disorders in China.

J Dermatol 2018 Aug 14;45(8):1003-1008. Epub 2018 May 14.

Institute of Dermatology, Guangzhou Medical University, Guangzhou, China.

Long-term systemic treatment with acitretin for severe hyperkeratotic disorders is needed to maintain quality of life of afflicted patients, but treatment has been limited owing to its potential side-effects including skeletal malformations, particularly for children during their growth and development. A retrospective investigation was conducted with three children afflicted with a severe hyperkeratotic disorder, namely Darier's disease, bullous ichthyosiform erythroderma or lamellar ichthyosis, who were continuously maintained on 0.2-0. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.14462DOI Listing
August 2018
5 Reads

Clinical and molecular characterization and response to acitretin in three families with Sjögren-Larsson syndrome.

Int J Dermatol 2018 Jul 27;57(7):843-848. Epub 2018 Apr 27.

Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Boğaziçi University, Istanbul, Turkey.

Introduction: Sjögren-Larsson syndrome (SLS) is a rare congenital disorder characterized by the triad of ichthyosis, spasticity, and mental retardation. Patients are usually referred to dermatology clinics during infancy. As paraplegia becomes the most debilitating symptom of the disease within a few years, ichthyosis, although a major burden for the patient, takes a back seat. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14013DOI Listing
July 2018
17 Reads

The Major Orphan Forms of Ichthyosis Are Characterized by Systemic T-Cell Activation and Th-17/Tc-17/Th-22/Tc-22 Polarization in Blood.

J Invest Dermatol 2018 Oct 14;138(10):2157-2167. Epub 2018 Apr 14.

Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Illinois, USA. Electronic address:

The ichthyoses are rare skin disorders with immune and barrier aberrations. Identifying blood phenotypes may advance targeted therapeutics. We aimed to compare frequencies of skin homing/cutaneous lymphocyte antigen (+) versus systemic/cutaneous lymphocyte antigen (-) "polar" CD4/CD8 and activated T-cell subsets in ichthyosis versus atopic dermatitis, psoriasis, and control blood, with appropriate clinical correlations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2018.03.1523DOI Listing
October 2018
23 Reads

[Analysis of TGM1 gene mutation in a collodion baby].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Apr;35(2):265-267

Laboratory of Prenatal Diagnostic Center, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China.

Objective: To explore the genetic cause for a Uyghur Chinese child with collodion skin.

Methods: G-banded chromosomal karyotyping was carried out for the child and his parents. High-throughput sequencing for 25 genes related to ichthyosis and ichthyosiform dermatosis was also performed for the child. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.02.027DOI Listing
April 2018
6 Reads

Lamellar ichthyosis in a female neonate without a collodion membrane.

Dermatol Online J 2018 Feb 15;24(2). Epub 2018 Feb 15.

Department of Medicine, Division of Dermatology, David Geffen School of Medicine at UCLA, Los Angeles, California.

The term, autosomal recessive congenital ichthyosis (ARCI), describes a group of rare genetic skin diseases of cornification involving hyperkeratotic scaling at birth. The defective skin barrier function may lead to dehydration, body temperature instability, and high susceptibility to infections. In most cases of ARCI, neonates are born with a collodion membrane covering the body, often presenting with ectropion and eclabium. Read More

View Article

Download full-text PDF

Source
February 2018
5 Reads

Hyperlipidemia secondary to acitretin therapy for lamellar ichthyosis associated with a NIPAL4 mutation improves on a plant-based diet and relapses on a standard Western diet.

Clin Nutr ESPEN 2018 Apr 23;24:54-57. Epub 2018 Feb 23.

Department of Medicine, Division of Cardiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10467, USA. Electronic address:

Oral retinoids are commonly prescribed for many dermatological conditions and may induce hyperlipidemia. We document the case of a 35-year-old man taking acitretin for congenital lamellar ichthyosis associated with a homozygous deleterious mutation in NIPAL4 who developed retinoid-induced hyperlipidemia that responded dramatically to a whole-food plant-based (WFPB) diet. On presentation, his diet consisted of chicken, fish, low fat meats and dairy, grains, and some fruits and vegetables. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clnesp.2018.01.070DOI Listing
April 2018
5 Reads

VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.

Biochim Biophys Acta Mol Basis Dis 2018 May 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2018.01.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5906731PMC
May 2018
35 Reads

Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis.

Pediatr Neonatol 2018 12 9;59(6):628-629. Epub 2018 Jan 9.

Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-I-Azam University, Islamabad, Pakistan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pedneo.2018.01.003DOI Listing
December 2018
4 Reads

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

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00005792-201712220-0012
Publisher Site
http://dx.doi.org/10.1097/MD.0000000000009387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758244PMC
December 2017
12 Reads

Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis.

Int J Dermatol 2018 Apr 29;57(4):428-433. Epub 2018 Jan 29.

FRIGE's Institute of Human Genetics, FRIGE House, Ahmedabad, India.

Background: Harlequin ichthyosis (HI) is a severe genetic disorder caused by the mutation in the ABCA12 gene. Infants born with this condition have markedly thickened, hard stratum corneum skin all over the body.

Methods: A female child born with a thick white plate of skin with deep cracks all over the body was investigated for genes associated with congenital Ichthyosis by Next Generation sequencing. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.13923DOI Listing
April 2018
6 Reads

A newborn with significant white hyperkeratotic plaques.

Pediatr Dermatol 2018 Jan;35(1):143-144

Department of Dermatology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13356DOI Listing
January 2018
2 Reads

Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis.

Ophthalmic Plast Reconstr Surg 2018 May/Jun;34(3):e76-e77

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IOP.0000000000001047DOI Listing
July 2018
6 Reads

Harlequin Ichthyosis - A Case Report.

Ir Med J 2017 Aug 8;110(7):606. Epub 2017 Aug 8.

Department of Obstetrics and Gynaecology, Wexford General Hospital, Newtown Road. Wexford.

Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Read More

View Article

Download full-text PDF

Source
August 2017
1 Read

Severe ectropion in lamellar ichthyosis managed medically with oral acitretin.

Pediatr Dermatol 2018 Mar 15;35(2):e117-e120. 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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/pde.13410
Publisher Site
http://dx.doi.org/10.1111/pde.13410DOI Listing
March 2018
11 Reads

Compound heterozygous mutations with novel missense mutation in harlequin ichthyosis.

BMJ Case Rep 2018 Jan 3;2018. Epub 2018 Jan 3.

Department of Dermatology, KK Women's and Children's Hospital, Singapore, Singapore.

Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, presenting at birth with distinctive facial features and thick, plate-like scales over the entire body. The abnormal skin barrier predisposes the patient to multiple complications, including dehydration and sepsis. Mortality rates of babies with HI have been greatly reduced since the introduction of systemic retinoid therapy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2017-222025DOI Listing
January 2018
2 Reads

[Keratinisation disorders - No end of new developments!]

Authors:
O Dereure

Ann Dermatol Venereol 2018 Jan 28;145(1):76-77. Epub 2017 Dec 28.

Département de dermatologie, unité Inserm U1058, hôpital Saint-Éloi, université Montpellier I, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.annder.2017.11.014DOI Listing
January 2018

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijd.IJD_411_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5724308PMC
December 2017
7 Reads

Acral lamellar Ichthyosis - expanding the phenotype of temperature-sensitive keratinization disorders.

J Eur Acad Dermatol Venereol 2018 May 19;32(5):e206-e207. Epub 2017 Dec 19.

Institute of Pathology Heidelberg IPH, University Hospital, Heidelberg University, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/jdv.14724
Publisher Site
http://dx.doi.org/10.1111/jdv.14724DOI Listing
May 2018
4 Reads

Ichthyosis with Confetti Inherited from a Mosaic Father.

Acta Derm Venereol 2018 01;98(1):130-131

Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense C, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-2776DOI Listing
January 2018
9 Reads

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Int J Dermatol 2017 Dec;56(12):1406-1413

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Background: Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study.

Methods: Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.13778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094939PMC
December 2017
46 Reads
1.227 Impact Factor

Elucidation of the Synthetic Mechanism of Acylceramide, an Essential Lipid for Skin Barrier Function.

Authors:
Yusuke Ohno

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1248/yakushi.17-00126DOI Listing
November 2017
2 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1203475417733414DOI Listing
June 2018
14 Reads

Pseudoainhum and autoamputation associated with lamellar ichthyosis.

Indian J Dermatol Venereol Leprol 2017 Nov-Dec;83(6):728-729

Department of Dermatology, Venereology and Leprology, JIPMER, Puducherry, India.

View Article

Download full-text PDF

Source
http://www.ijdvl.com/text.asp?2017/83/6/728/215286
Publisher Site
http://dx.doi.org/10.4103/ijdvl.IJDVL_56_17DOI Listing
November 2018
3 Reads

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis.

Br J Dermatol 2017 08;177(2):342-343

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, U.S.A.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/bjd.15689
Publisher Site
http://dx.doi.org/10.1111/bjd.15689DOI Listing
August 2017
3 Reads

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/pde.13240
Publisher Site
http://dx.doi.org/10.1111/pde.13240DOI Listing
September 2017
7 Reads

[Treatment of Morbus Hodgkin in a Child with Congenital Lamellar Ichthyosis].

Klin Padiatr 2017 11 14;229(6):350-351. Epub 2017 Aug 14.

Department of Pediatrics, UKSH, Campus Lübeck, Lübeck.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0043-116851DOI Listing
November 2017
2 Reads

A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease.

Eur J Dermatol 2017 08;27(4):438-439

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/ejd.2017.3049DOI Listing
August 2017
5 Reads

Acral self-healing collodion baby.

Arch Dis Child Fetal Neonatal Ed 2017 Nov 22;102(6):F542-F543. Epub 2017 Jul 22.

Pediatric Dermatology Unit, Ospedale Dell'Angelo, Venezia, Italy.

View Article

Download full-text PDF

Source
http://fn.bmj.com/lookup/doi/10.1136/archdischild-2016-31253
Publisher Site
http://dx.doi.org/10.1136/archdischild-2016-312537DOI Listing
November 2017
2 Reads

Lamellar ichthyosis associated bilateral pseudoainhum of fingers and toes successfully treated with tazarotene.

Dermatol Ther 2017 09 21;30(5). Epub 2017 Jul 21.

Department of Pathology, JIPMER, Puducherry 605006, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dth.12516DOI Listing
September 2017
13 Reads

Dry eye and Meibomian gland dysfunction with meibography in patients with lamellar ichthyosis.

Cont Lens Anterior Eye 2018 04 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clae.2017.06.001DOI Listing
April 2018
10 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2017.67DOI Listing
October 2017
8 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473727PMC
June 2017
48 Reads