28 results match your criteria Ichthyosis Fetalis

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Ichthyosis fetalis in Polled Hereford and Shorthorn calves.

J Vet Diagn Invest 2017 Nov 6;29(6):874-876. Epub 2017 Aug 6.

New South Wales (NSW) Department of Primary Industries, Elizabeth Macarthur Agricultural Institute, Menangle, NSW, Australia (O'Rourke, Spiers, Shearer, Porter).

Inherited forms of ichthyosis, or generalized scaling of the skin, have been reported in many animal species, including cattle, and are characterized by an autosomal recessive mode of inheritance. We investigated 2 calves affected with ichthyosis fetalis, a Polled Hereford and a Shorthorn. Both cases had hard white plaques on the skin consistent with excessive keratinization. Read More

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http://dx.doi.org/10.1177/1040638717724186DOI Listing
November 2017
11 Reads

Ichthyosis fetalis in a cross-bred lamb.

Vet Dermatol 2017 Oct 5;28(5):516-e125. Epub 2017 Jun 5.

Department of Veterinary Clinics and Surgery, Veterinary School, Universidade Federal de Minas Gerais (UFMG), Avenida Antônio Carlos 6627, Belo Horizonte, MG, 30123-970, Brazil.

Background: Ichthyosis is a dermatological disease characterized by varying degrees of generalized hyperkeratosis and alopecia. Two congenital forms of ichthyosis are recognized in animals: fetalis (IF) and congenita. The disease occurs rarely in cattle, swine, dogs, chickens and a goat; it has not been reported in sheep. Read More

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http://dx.doi.org/10.1111/vde.12459DOI Listing
October 2017
22 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
20 Reads

Perinatal-lethal Gaucher disease presenting as hydrops fetalis.

Pan Afr Med J 2015 10;21:110. Epub 2015 Jun 10.

Neonatology Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.

Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. Read More

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http://dx.doi.org/10.11604/pamj.2015.21.110.7052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546719PMC
June 2016
9 Reads

The clinical management of Type 2 Gaucher disease.

Mol Genet Metab 2015 Feb 14;114(2):110-122. Epub 2014 Nov 14.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Gaucher disease, the inherited deficiency of the enzyme glucocerebrosidase, is the most common of the lysosomal storage disorders. Type 2 Gaucher disease, the most severe and progressive form, manifests either prenatally or in the first months of life, followed by death within the first years of life. The rarity of the many lysosomal storage disorders makes their diagnosis a challenge, especially in the newborn period when the focus is often on more prevalent illnesses. Read More

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http://dx.doi.org/10.1016/j.ymgme.2014.11.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312716PMC
February 2015
2 Reads

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.

Eur J Pediatr 2015 May 12;174(5):661-8. Epub 2014 Nov 12.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, 17666, United Arab Emirates,

Unlabelled: Transaldolase deficiency is a heterogeneous disorder of carbohydrate metabolism characterized clinically by dysmorphic features, cutis laxa, hepatosplenomegaly, hepatic fibrosis, pancytopenia, renal and cardiac abnormalities, and urinary excretion of polyols. This report describes four Emirati patients with transaldolase deficiency caused by the homozygous p.R192C missense mutation in TALDO1 displaying wide phenotypic variability. Read More

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http://link.springer.com/10.1007/s00431-014-2449-5
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http://dx.doi.org/10.1007/s00431-014-2449-5DOI Listing
May 2015
4 Reads

Harlequin color change after abdominal paracentesis in a newborn with neonatal hemochromatosis.

Pediatr Dermatol 2014 Nov-Dec;31(6):e114-5. Epub 2014 Sep 10.

Division of Neonatology, Bursa Dortcelik Children's Hospital, Bursa, Turkey.

Harlequin color change is a distinctive cutaneous phenomenon presenting as a well-demarcated color change, with half of the body displaying erythema and the other half pallor. Only a few cases have been reported, possibly because of under-recognition. Recognition of this benign, self-limited condition may enable physicians to avoid unnecessary interventions. Read More

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http://doi.wiley.com/10.1111/pde.12399
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http://dx.doi.org/10.1111/pde.12399DOI Listing
November 2015
12 Reads

Harlequin ichthyosis: A medico legal case report & review of literature with peculiar findings in autopsy.

J Forensic Leg Med 2012 Aug 7;19(6):352-4. Epub 2012 Mar 7.

Forensic Medicine, GSL Medical College, NH-5, Laxmipuram, Rajahmundry, 533294 Andhra Pradesh, India.

Ichthyosis fetalis or Harlequin ichthyosis is an extremely severe and fatal hereditary skin disorder with an autosomal recessive inheritance. It is distinctive because of its remarkable clinical appearance which includes epidermal keratinization, hypoplasia of fingers or nails, malformation of ear and nose and incompatibility with life. This report describes a case of Harlequin ichthyosis along with detailed autopsy findings, which manifested the suspended animation in the early hours after delivery and showing a peculiar malformation of the cerebral hemispheres. Read More

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http://dx.doi.org/10.1016/j.jflm.2012.02.019DOI Listing

A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene.

J Pediatr Endocrinol Metab 2011 ;24(5-6):381-3

Zekai Tahir Burak Maternity Teaching Hospital, Ankara, Turkey.

Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. In some cases without hydrops, neurological signs occur in the first week of life and lead to death within 3 months. Read More

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August 2011
8 Reads

Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.

Pediatr Dev Pathol 2011 May-Jun;14(3):240-3. Epub 2010 Oct 14.

Department of Biology, University of Victoria, Victoria, British Columbia, V8W 3N5 Canada.

Gaucher disease is an autosomal recessive disorder resulting from deficient activity of the lysosomal enzyme glucocerebrosidase (GBA, E.C.3. Read More

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http://journals.sagepub.com/doi/10.2350/09-11-0744-CR.1
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http://dx.doi.org/10.2350/09-11-0744-CR.1DOI Listing
October 2011
9 Reads

[The first article in the Journal Actas Dermo-Sifiliográficas published with photographs: malignant keratosis diffusa fetalis (Fetal ichthyosis, congenital maligna keratoma, etc.)].

Authors:
R M Díaz-Díaz

Actas Dermosifiliogr 2009 May;100(4):287-90

Sección de Dermatología, Hospital Infanta Sofía, San Sebastián de los Reyes, Madrid, España.

Brief comment is made on the first article published in the journal Actas Dermo-Sifiliográficas with photographic documentation of the case history and histological findings. It was written by the founder of the journal, Dr. Juan de Azúa, in 1909. Read More

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May 2009
1 Read

Highly effective SNP-based association mapping and management of recessive defects in livestock.

Nat Genet 2008 Apr 16;40(4):449-54. Epub 2008 Mar 16.

Unit of Animal Genomics, GIGA-Research and Department of Animal Sciences, Faculty of Veterinary Medicine, University of Liège (B34), 1 Avenue de l'Hôpital, 4000 Liège, Belgium.

The widespread use of elite sires by means of artificial insemination in livestock breeding leads to the frequent emergence of recessive genetic defects, which cause significant economic and animal welfare concerns. Here we show that the availability of genome-wide, high-density SNP panels, combined with the typical structure of livestock populations, markedly accelerates the positional identification of genes and mutations that cause inherited defects. We report the fine-scale mapping of five recessive disorders in cattle and the molecular basis for three of these: congenital muscular dystony (CMD) types 1 and 2 in Belgian Blue cattle and ichthyosis fetalis in Italian Chianina cattle. Read More

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http://dx.doi.org/10.1038/ng.96DOI Listing
April 2008
17 Reads

[Severe hypernatraemic dehydration in collodion baby].

Ugeskr Laeger 2007 Mar;169(13):1232-3

Rigshospitalet, Neonatalklinikken, København Ø.

Case report on severe hypernatraemic dehydration in a non-recognised collodion baby who also suffered from hydrops fetalis caused by supraventricular tachycardia. Excessive transcutaneous fluid loss caused s-Na+ reaching 182 mmol/l within 36 hours of birth. The infant was cautiously rehydrated during the following three days. Read More

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March 2007
2 Reads

HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.

Hum Mol Genet 2007 May 2;16(10):1176-87. Epub 2007 Apr 2.

Heritable Disorders Branch, NICHD, OD, NIH, DHHS, Bethesda, MD 20892, USA.

Mutations of the lamin B receptor (LBR) have been shown to cause HEM dysplasia in humans and ichthyosis in mice. LBR is a bifunctional protein with both a lamin B binding and a sterol Delta(14)-reductase domain. It previously has been proposed that LBR is the primary sterol Delta(14)-reductase and that HEM dysplasia and ichthyosis are inborn errors of cholesterol synthesis. Read More

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http://hmg.oxfordjournals.org/content/16/10/1176.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddm065
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http://dx.doi.org/10.1093/hmg/ddm065DOI Listing
May 2007
7 Reads

Ichthyosis in two Chianina calves.

Dtsch Tierarztl Wochenschr 2006 Sep;113(9):351-4

Department of Veterinary Clinical Science, University of Padova, Italy.

The occurrence of ichthyosis in two Italian Chianina calves is described for the first time. Both animals, affected by ichthyosis fetalis and ichthyosis congenita, respectively, showed diffuse cutaneous thickening which had been present since birth. The first patient was a three-month-old female calf; inelastic leather cuirass-like skin associated with generalized hypotrichosis and local alopecia, delay of the physiologic change of coat colour, stiff movement and growth retardation were the most prominent clinical characteristics. Read More

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September 2006
4 Reads

Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.

Fetal Pediatr Pathol 2005 Jul-Oct;24(4-5):205-22

Section on Molecular Neurogenetics, National Institute of Mental Health and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.

Gaucher disease, the inherited deficiency of glucocerebrosidase, is characterized by significant genetic and phenotypic heterogeneity. At the extreme end of the phenotypic continuum is the perinatal lethal variant, typically presenting in utero or during the neonatal period as hydrops and/orcongenital ichthyosis, with severe and progressive neurological involvement. Insights from the null-allele Gaucher mouse model contributed to the identification of this distinct phenotype, which has unique epidermal involvement. Read More

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http://dx.doi.org/10.1080/15227950500405296DOI Listing
March 2006
3 Reads

Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.

Blood Cells Mol Dis 2005 Sep-Oct;35(2):253-8

Institut de Bioquímica Clínica, Corporació Sanitària Clínic, Mejía Lequerica, s/n. Edifici Helios III, planta baixa. 08028 Barcelona, Spain.

Gaucher disease, the most common lysosomal storage disorder, encompasses a wide spectrum of clinical symptoms. The perinatal lethal form is very rare and is considered a distinct form of classic type 2 Gaucher disease. Prominent features of the severe perinatal form are hepatosplenomegaly variable, associated with hydrops fetalis and ichthyosis. Read More

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http://dx.doi.org/10.1016/j.bcmd.2005.04.007DOI Listing
January 2006
8 Reads

Lethal arthrogryposis with icthyosis: overlap with Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus.

Clin Dysmorphol 2004 Apr;13(2):117-9

We describe a stillborn female with joint contractures, subcutaneous oedema, ectropion, a severely flattened nose, an 'O' shaped open mouth and extensive peeling of skin. The head circumference was normal. She was born at 33 weeks of gestation to consanguineous parents, who had one previous offspring affected with non-immune hydrops fetalis. Read More

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http://pdfs.journals.lww.com/clindysmorphol/2004/04000/Letha
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April 2004
1 Read

Perinatal-lethal Gaucher disease.

Am J Med Genet A 2003 Jul;120A(3):338-44

Neurologie Pédiatrique, Hôpital Armand Trousseau, Paris, France.

Gaucher disease is a lysosomal storage disease caused by glucocerebrosidase deficiency. Although purely visceral in most cases, some Gaucher disease patients have neurological signs. Signs of Gaucher disease appear after a symptom-free period, except in rare cases with fetal onset. Read More

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http://dx.doi.org/10.1002/ajmg.a.20117DOI Listing
July 2003
4 Reads

What syndrome is this? Neu-Laxova syndrome.

Pediatr Dermatol 2003 Jan-Feb;20(1):78-80

Department of Dermatology, University of Colorado Health Sciences Center, Denver 80262, USA.

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June 2003
1 Read

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.

Pediatr Res 1998 May;43(5):571-8

Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892-4405, USA.

Gaucher's disease, the inherited deficiency of glucocerebrosidase, manifests with vast phenotypic variation. Even among patients with type 2 (acute neuronopathic) Gaucher's disease, there is a spectrum of clinical presentations. DNA samples from 14 patients with type 2 Gaucher's disease with a course ranging from intrauterine death at 22 wk of gestation to survival until age 30 mo were studied. Read More

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http://dx.doi.org/10.1203/00006450-199805000-00003DOI Listing

[Keratosis diffusa fetalis. Apropos of 2 cases].

Arch Anat Cytol Pathol 1996 ;44(2-3):94-7

Laboratoire d'Anatomie Pathologique, Faculté de Médecine, Université Cheikh Anta Diop de Dakar, Dakar, Sénégal.

Keratosis diffusa fetalis is a rare autosomic recessive disorder, in which infants are covered with large parchment-like scales, split by deep fissures. Most affected infants die a few weeks after birth because of infections and respiratory problems. The authors present the clinical, histological and ultrastructural aspects of two cases of Ichthyosis congenita fetalis observed in negro-African newborns. Read More

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October 1996
1 Read

Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.

Pediatr Res 1992 Oct;32(4):494-8

Clinical Neuroscience Branch, National Institute of Mental Health, Bethesda, Maryland 20892.

A group of neonates with Gaucher disease with a particularly devastating clinical course is described. The phenotype of these infants is analogous to that of a Gaucher mouse, which was created by targeted disruption of the mouse glucocerebroside gene. Similar to the homozygous mutant mice with glucocerebrosidase deficiency, these infants present at or shortly after birth, have rapidly progressing fulminant disease, and many have associated ichthyotic skin and/or hydrops fetalis. Read More

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http://dx.doi.org/10.1203/00006450-199210000-00023DOI Listing
October 1992

New manifestations of Neu-Laxova syndrome.

Am J Med Genet 1990 Jan;35(1):55-9

Department of Pediatrics, Government Medical College, Mysore, India.

We report on a newborn boy with Neu-Laxova syndrome and spina bifida, bilateral cryptorchidism, and shallow orbital cavities. Association of these manifestations in Neu-Laxova syndrome is the first to be reported in the literature. This is the first report of Neu-Laxova syndrome from India. Read More

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http://doi.wiley.com/10.1002/ajmg.1320350110
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http://dx.doi.org/10.1002/ajmg.1320350110DOI Listing
January 1990
1 Read

Ichthyosis congenital fetalis (Harlequin fetus).

Int J Dermatol 1982 Jul-Aug;21(6):347-8

A male fetus which was the product of full-term pregnancy and normal delivery with no family history is presented. The skin was hard and thick, waxy, yellowish in color, and was crossed by horizontal and or perpendicular red fissures. The eyelids were semiclosed, hard, and stiff resulting in ectropion and the conjunctivae were red. Read More

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December 1982
2 Reads

Ichthyosis fetalis.

Paediatr Indones 1978 May-Jun;18(5-6):164-72

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December 1978
9 Reads

[Ichthyosis fetalis gravis; case report with more than a year's survival].

Authors:
F DONOSO H GARCES

Rev Chil Pediatr 1956 Apr;27(4):158-61

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April 1956
3 Reads

Two cases of icthyosis fetalis.

Authors:
G B B BUFFAM

Can Med Assoc J 1951 Jun;64(6):531-2

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1821933PMC
June 1951
17 Reads
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