279 results match your criteria Ichthyosis Harlequin


A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment.

J Mol Cell Biol 2019 Mar 29. Epub 2019 Mar 29.

State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.

Harlequin ichthyosis (HI) is a severe genetic skin disorder and caused by mutation in the ATP-binding cassette A12 (ABCA12) gene. The retinoid administration has dramatically improved long-term survival of HI, but improvements are still needed. However, the ABCA12 null mice fails to respond to retinoid treatment, which impedes the development of novel cure strategies for HI. Read More

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http://dx.doi.org/10.1093/jmcb/mjz021DOI Listing

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Mol Genet Genomic Med 2019 Mar 27:e608. Epub 2019 Mar 27.

Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.

Background: Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI genes are associated with LI and CIE phenotypes, the unique gene associated with HI is ABCA12. In HI, the most severe ARCI form, pathogenic variants in both ABCA12 gene alleles usually have a severe impact on protein function. Read More

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http://dx.doi.org/10.1002/mgg3.608DOI Listing

ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids.

Pediatr Dermatol 2019 Feb 27. Epub 2019 Feb 27.

Department of Neonatal-Perinatal, Children's Hospital of Michigan, Neonatal-Perinatal Medicine, Detroit, Michigan.

Harlequin ichthyosis (HI) is associated with high mortality. Early systemic retinoids are widely used, although their use remains debatable. We reported two neonates with homozygous mutations in ABCA12 consistent with harlequin ichthyosis who survived to discharge home with intensive care and without use of systemic retinoids. Read More

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http://doi.wiley.com/10.1111/pde.13770
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http://dx.doi.org/10.1111/pde.13770DOI Listing
February 2019
6 Reads

Two successive cases of fetal harlequin ichthyosis: A case report.

Exp Ther Med 2019 Jan 2;17(1):449-452. Epub 2018 Nov 2.

Guangzhou Huayin Medical Laboratory Center, Co., Ltd., Guangzhou, Guangdong 510663, P.R. China.

Harlequin ichthyosis (HI) is a genetic skin disorder characterized by thickening and splitting of the skin. In fetuses presenting with the disorder, the mortality rate is markedly high. A number of fetal HI cases have been documented. Read More

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http://www.spandidos-publications.com/10.3892/etm.2018.6917
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http://dx.doi.org/10.3892/etm.2018.6917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307384PMC
January 2019
19 Reads

Ichthyosis Congenita, Harlequin Type: A Fatal Case Report.

Cureus 2018 Oct 30;10(10):e3524. Epub 2018 Oct 30.

Internal Medicine, Jinnah Sindh Medical University, Karachi, PAK.

Harlequin baby is rare and it is the most severe kind of congenital ichthyosis. It manifests as severely keratinized skin with an autosomal recessive inheritance. Incidence of this disease is 1 in 300,000 live births. Read More

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https://www.cureus.com/articles/15438-ichthyosis-congenita-h
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http://dx.doi.org/10.7759/cureus.3524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318104PMC
October 2018
8 Reads

Prenatal sonographic diagnosis of Harlequin ichthyosis.

J Clin Ultrasound 2019 May 3;47(4):228-231. Epub 2018 Dec 3.

Department of Obstetrics and Gynaecology, Centro Hospitalar São João, Porto, Portugal.

Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyoses. So far, there are only a few reports of prenatal diagnosis in the literature, as prenatal sonographic features are quite subtle. We report a case of prenatal diagnosis of Harlequin ichthyosis on third-trimester sonographic examination in a consanguineous couple with no history of the disease and describe its characteristic sonographic features. Read More

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http://dx.doi.org/10.1002/jcu.22675DOI Listing
May 2019
3 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

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https://linkinghub.elsevier.com/retrieve/pii/S01909622183236
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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

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

[Harlequin ichthyosis with a diaphragmatic hernia and a new mutation].

Ugeskr Laeger 2018 Sep;180(36)

Harlequin ichthyosis (HI) is a rare and severe form of the autosomal recessive congenital ichthyosis. This is a case report of a 30-year-old healthy woman with a pregnancy resulting in preterm birth of a child with severe HI, who did not survive. At the autopsy, the child was found with HI and a diaphragmatic hernia of the Bochdalek type. Read More

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September 2018
29 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

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

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

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

A Unique Preparation and Delivery Method for Acitretin for Neonatal Harlequin Ichthyosis.

J Pediatr Pharmacol Ther 2018 Mar-Apr;23(2):164-167

Harlequin ichthyosis is a rare form of congenital ichthyosis with a distinct phenotypic appearance. We describe a case of a newborn baby with harlequin ichthyosis who was treated with an oral formulation of acitretin. The treatment resulted in a satisfactory improvement in the skin condition of the patient. Read More

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http://dx.doi.org/10.5863/1551-6776-23.2.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916446PMC
May 2018
3 Reads

Osteopenia and Multiple Fractures in an Infant With Harlequin Ichthyosis.

JAMA Dermatol 2018 Jul;154(7):847-849

Department of Pediatrics, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1001/jamadermatol.2018.0308DOI Listing
July 2018
1 Read

Surgical management of the hand manifestations of Harlequin ichthyosis.

ANZ J Surg 2018 Mar 6. Epub 2018 Mar 6.

Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/ans.14435DOI Listing
March 2018
6 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

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http://dx.doi.org/10.1111/ijd.13923DOI Listing
April 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

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August 2017
1 Read

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

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

Harlequin ichthyosis: A rare case.

Turk J Obstet Gynecol 2017 Jun 15;14(2):138-140. Epub 2017 Jun 15.

K.L.E. University's Jawaharlal Nehru Medical College, Department of Obstetrics and Gynecology, Belagavi, India.

Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. Read More

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http://dx.doi.org/10.4274/tjod.63004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558415PMC
June 2017
4 Reads

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.

J Invest Dermatol 2017 11 31;137(11):2344-2353. Epub 2017 Jul 31.

St. John's Institute of Dermatology, King's College London (Guy's Campus), London, UK; Centre for Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UK. Electronic address:

Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization, although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in four probands with undiagnosed skin hyperkeratosis/ichthyosis, we identified compound heterozygosity for mutations in KDSR, encoding an enzyme in the de novo synthesis pathway of ceramides. Two individuals had hyperkeratosis confined to palms, soles, and anogenital skin, whereas the other two had more severe, generalized harlequin ichthyosis-like skin. Read More

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http://dx.doi.org/10.1016/j.jid.2017.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5646945PMC
November 2017
28 Reads

A profile of lipid dysregulation in harlequin ichthyosis.

Br J Dermatol 2017 11 19;177(5):e217-e219. Epub 2017 Oct 19.

Monash Biomedicine Discovery Institute, Monash University, Wellington Road, Clayton, 3800, VIC, Australia.

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http://dx.doi.org/10.1111/bjd.15642DOI Listing
November 2017
18 Reads

Case of harlequin ichthyosis with a favorable outcome: Early treatment and novel, differentially expressed, alternatively spliced transcripts of the ATP-binding cassette subfamily A member 12 gene.

J Dermatol 2017 Aug 11;44(8):950-953. Epub 2017 Mar 11.

Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan.

Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, with a high mortality rate. Recent advances in neonatal care and the early administration of retinoids have improved the survival rate of HI. Here, we present a case of HI who was successfully treated with early administration of etretinate and showed good prognosis. Read More

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http://dx.doi.org/10.1111/1346-8138.13823DOI Listing
August 2017
24 Reads

Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.

Pediatrics 2017 01 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

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http://dx.doi.org/10.1542/peds.2016-1003DOI Listing
January 2017
8 Reads

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.

J Invest Dermatol 2017 02 18;137(2):385-393. Epub 2016 Oct 18.

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program. Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p. Read More

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http://dx.doi.org/10.1016/j.jid.2016.07.043DOI Listing
February 2017
57 Reads

Colloidion Baby: A Rare Clinical Entity.

J Clin Diagn Res 2016 Jul 1;10(7):SJ01-2. Epub 2016 Jul 1.

Senior Resident, Department of Obstetrics and Gynecology, AIIMS Rishikesh, Delhi, India .

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http://jcdr.net/article_fulltext.asp?issn=0973-709x&year
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http://dx.doi.org/10.7860/JCDR/2016/16804.8100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020182PMC
July 2016
11 Reads

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161465PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4994956PMC
July 2017
8 Reads

A case report of fatal harlequin ichthyosis: Insights into infectious and respiratory complications.

JAAD Case Rep 2016 Jul 3;2(4):301-3. Epub 2016 Aug 3.

State University of New York Downstate Medical Center, Department of Dermatology, Brooklyn, New York.

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http://dx.doi.org/10.1016/j.jdcr.2016.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976614PMC
July 2016
5 Reads

Congenital Ichthyosis - Collodion Baby Case Report.

J Clin Diagn Res 2016 Jun 1;10(6):SJ01-2. Epub 2016 Jun 1.

Assistant Professor, Department of Anatomy, Lady Harding Medical College , New Delhi, India .

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http://dx.doi.org/10.7860/JCDR/2016/16397.7953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963732PMC
June 2016
10 Reads

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

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http://dx.doi.org/10.1111/pde.12944DOI Listing
September 2016
11 Reads

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

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http://dx.doi.org/10.1111/ced.12861DOI Listing
August 2016
42 Reads

Generalized morphea in a child with harlequin ichthyosis: a rare association.

Rev Bras Reumatol Engl Ed 2016 Jan-Feb;56(1):82-5. Epub 2014 Nov 26.

Pediatric Rheumatology Unit, Children's Hospital, Faculdade de Medicina, Universidade São Paulo, São Paulo, SP, Brazil; Division of Rheumatology, Faculdade de Medicina, Universidade São Paulo, São Paulo, SP, Brazil. Electronic address:

Introduction: Harlequin ichthyosis (HI) is a severe and rare hereditary congenital skin disorder characterized by excessive dryness, ectropion and eclabion. The association of ichthyosis with systemic sclerosis has been described in only three children. No patient with generalized morphea (GM) associated with harlequin ichthyosis was described. Read More

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http://dx.doi.org/10.1016/j.rbre.2014.05.004DOI Listing
October 2018
18 Reads

Cover image: Unpeeling the layers of harlequin ichthyosis.

Br J Dermatol 2016 May;174(5):1160-1

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

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http://dx.doi.org/10.1111/bjd.14469DOI Listing
May 2016
11 Reads

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

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https://www.medicaljournals.se/acta/content/abstract/10.2340
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http://dx.doi.org/10.2340/00015555-2418DOI Listing
November 2016
23 Reads

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

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http://dx.doi.org/10.1111/1346-8138.13243DOI Listing
March 2016
33 Reads

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

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http://dx.doi.org/10.1016/j.revsto.2015.11.007DOI Listing
February 2016
7 Reads

Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis.

J Clin Diagn Res 2015 Nov 1;9(11):QD04-6. Epub 2015 Nov 1.

Assistant Professor, Department of Medical Genetics, Christian Medical College , Vellore, Tamil Nadu, India .

Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between. Read More

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http://dx.doi.org/10.7860/JCDR/2015/15250.6705DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4668483PMC
November 2015
27 Reads

Images in Anesthesiology: Harlequin Phenomenon in a Newborn after Induction of General Anesthesia.

Anesthesiology 2016 May;124(5):1166

From the Department of Anesthesiology, New York-Presbyterian Hospital/Columbia University Medical Center, New York, New York.

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http://Insights.ovid.com/crossref?an=00000542-201605000-0003
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http://dx.doi.org/10.1097/ALN.0000000000000911DOI Listing
May 2016
6 Reads

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

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http://dx.doi.org/10.1016/j.jdermsci.2015.10.003DOI Listing
December 2015
12 Reads

Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations.

Br J Dermatol 2016 Mar 30;174(3):689-91. Epub 2015 Dec 30.

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

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http://dx.doi.org/10.1111/bjd.14228DOI Listing
March 2016
8 Reads

Collodion Baby with TGM1 gene mutation.

Int Med Case Rep J 2015 22;8:205-8. Epub 2015 Sep 22.

Department of Obstetrics and Gynaecology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, India.

Collodion baby (CB) is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, and trichothiodystrophy. We report a CB that was brought to our department and later diagnosed to have TGM1 gene c. Read More

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http://dx.doi.org/10.2147/IMCRJ.S91517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4590349PMC
October 2015
6 Reads

Harlequin Skin Changes Caused by Extreme Rectal Pain.

Gastroenterology 2015 Oct 24;149(4):872-3. Epub 2015 Aug 24.

Section of Gastroenterology, Hepatology and Nutrition, The University of S. Demirel, Isparta, Turkey.

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http://dx.doi.org/10.1053/j.gastro.2015.06.048DOI Listing
October 2015
7 Reads
16.720 Impact Factor

A New Born with Lamellar ichthyosis(Collodion Baby).

J Coll Physicians Surg Pak 2015 Aug;25(8):621-2

Department of Pediatrics, Rehman Medical Institute, Peshawar.

Ichthyosisis an infrequent clinical entity worldwide with an incidence of 1:600,000 births. It can be one of the two types: collodion baby and Harlequin fetus or malignant keratoma (most severe form). The clinical manifestations in either form are thick and hard skin with deep splits. Read More

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http://dx.doi.org/08.2015/JCPSP.621622DOI Listing
August 2015
9 Reads

Harlequin Infant Born to a Varicella Infected Mother: A Case Report.

Fetal Pediatr Pathol 2015 17;34(4):241-7. Epub 2015 Jun 17.

1Senior resident, Department of Pathology, JIPMER, Puducherry, India.

Harlequin ichthyosis is a rare, severe form of congenital ichthyosis characterised by distinct physical appearance of the infant. It has occurrence of 1 in 1 million births and over 100 cases have been reported so far. It is caused by mutation in ABCA12 gene involved in lipid transport leading to profound thickening of stratum corneum. Read More

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http://dx.doi.org/10.3109/15513815.2015.1051253DOI Listing
May 2016
4 Reads

Harlequin ichthyosis: The third babies with harlequin ichthyosis in a family.

Turk Pediatri Ars 2014 Sep 1;49(3):269-71. Epub 2014 Sep 1.

Department of Pediatrics, Adıyaman University Faculty of Medicine, Adıyaman, Turkey.

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http://dx.doi.org/10.5152/tpa.2014.1432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4462308PMC
September 2014
7 Reads

[Skin morphology in congenital ichthyosis (Harlequin fetus)].

Arkh Patol 2015 Mar-Apr;77(2):39-42

Kaluga Regional Dermatovenereological Dispensary, Russian Federation.

The paper describes a skin morphological examination using an immunohistochemical study (Ki-67, cytokeratin (CK) 5/6, and CK LMW) in a dead 4-month-old girl with congenital ichthyosis (Harlequin ichthyosis (HI)). There is impaired proliferative activity, abnormalities in epidermal differentiation with abnormal CK LMW synthesis, and those in the differentiation of the skin appendages. There are also pronounced sclerotic changes with a predominance of reticulin fibers, derma, and its vessels. Read More

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http://dx.doi.org/10.17116/patol201577239-42DOI Listing
June 2015
4 Reads

Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.

J Dermatol Sci 2015 Jul 30;79(1):4-9. Epub 2015 Apr 30.

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

Research on the molecular genetics and pathomechanisms of autosomal recessive congenital ichthyosis (ARCI) has advanced considerably and several causative genes and molecules underlying the disease have been identified. Three major ARCI phenotypes are harlequin ichthyosis (HI), lamellar ichthyosis (LI), and congenital ichthyosiform erythroderma (CIE). Skin barrier defects are involved in the pathogenesis of ARCI. Read More

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http://dx.doi.org/10.1016/j.jdermsci.2015.04.009DOI Listing
July 2015
17 Reads

Treatment of Harlequin Ichthyosis With Acitretin.

Actas Dermosifiliogr 2015 Nov 24;106(9):759. Epub 2015 Apr 24.

Servicio de Dermatología Médico-Quirúrgica y Venereología, Hospital Universitario Puerta del Mar, Cádiz, España.

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http://dx.doi.org/10.1016/j.ad.2015.03.003DOI Listing
November 2015
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Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.

Pediatr Int 2015 Aug 14;57(4):516-22. Epub 2015 Jul 14.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Ichthyoses are a group of disorders marked by whitish, brown or dark-brown scales on the skin of almost the whole body. Harlequin ichthyosis (HI) is the most severe form. Neonatal death from HI was once common. Read More

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http://dx.doi.org/10.1111/ped.12638DOI Listing
August 2015
3 Reads

[Interdisciplinary care of newborns with epidermolysis bullosa and severe congenital ichthyoses].

Hautarzt 2015 Apr;66(4):236-44

Fachbereich Pädiatrische Dermatologie und Allergologie, Kinder- und Jugendkrankenhaus AUF DER BULT, Janusz-Korczak-Allee 12, 30173, Hannover, Deutschland,

Severe genodermatoses such as hereditary blistering diseases or Mendelian disorders of cornification may present as neonatal emergencies requiring interdisciplinary care. In particular, epidermolysis bullosa hereditaria, the collodion baby phenotype and harlequin ichthyosis represent serious clinical challenges with neonatal onset. This review summarizes dermatologically relevant aspects regarding pathogenesis, clinical presentation, diagnosis and therapy of these illnesses. Read More

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http://link.springer.com/10.1007/s00105-015-3610-4
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http://dx.doi.org/10.1007/s00105-015-3610-4DOI Listing
April 2015
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A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.

Clin Exp Dermatol 2015 Oct 9;40(7):757-60. Epub 2015 Mar 9.

Genetics Unit, GENIUROS Group, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.

Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis. TGM1 mutations cause > 50% of ARCI cases in the USA. Read More

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http://dx.doi.org/10.1111/ced.12627DOI Listing
October 2015
6 Reads