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Metab Brain Dis 2022 Apr 7;37(4):1283-1287. Epub 2022 Mar 7.

Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey.

Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died before three months of age due to severe septicemia, respiratory and liver failure. One was homozygous for a novel GBA variant c. Read More

Clin Case Rep 2021 Jul 23;9(7):e04540. Epub 2021 Jul 23.

Department of Medicine School of Medicine Makerere University College of Health Sciences Kampala Uganda.

Ichthyosis fetalis is a very rare and life-threatening dermatological disorder that is very difficult to treat, especially in low-resource settings. Read More

Anim Genet 2020 Oct 21;51(5):837-838. Epub 2020 Jun 21.

Elizabeth Macarthur Agricultural Institute, NSW Department of Primary Industries, Menangle, NSW, 2568, Australia.

Indian J Radiol Imaging 2019 Oct-Dec;29(4):448-451. Epub 2019 Dec 31.

Department of Fetal Medicine, Indraprasth Apollo Hospital, Sarita Vihar, New Delhi, India.

Most of the fetal deformities are caused due to genetic abnormalities. Although magnetic resonance imaging (MRI) may be used to accurately diagnose these deformities, it has been reported that gene analysis is a more accurate diagnostic method. Harlequin ichthyosis (HI) or Ichthyosis fetalis (IF) is a rare and extremely severe hereditary skin disorder with autosomal recessive inheritance. Read More

Anim Genet 2019 Dec 30;50(6):749-752. Epub 2019 Sep 30.

Faculty of Science, Sydney School of Veterinary Science, University of Sydney, Camden, 2570, NSW, Australia.

Two clinical forms of ichthyosis in cattle have been reported, ichthyosis fetalis and congenital ichthyosis. Ichthyosis poses animal welfare and economic issues and the more severe form, ichthyosis fetalis, is lethal. A Shorthorn calf with ichthyosis fetalis was investigated and a likely causal missense variant on chromosome 2 in the ABCA12 gene (NM_001191294. Read More

Front Pediatr 2019 22;7:201. Epub 2019 May 22.

Department of Pediatrics, Zibo Central Hospital, Shandong, China.

Perinatal lethal Gaucher disease (PLGD), a particular and serious form of type 2 Gaucher disease (GD), often causes lethality or death within hours after birth. The typical clinical manifestations include non-immune hydrops fetalis (NIHF), premature birth, fetal growth restriction, fetal intrauterine death, or neonatal distress and rapid death after birth. Here, we present a premature neonate with GD whose main clinical manifestations included intrauterine growth retardation, anasarca, facial dysmorphia, ichthyosis, respiratory distress, hepatosplenomegaly, joint contractures, myoclonus, refractory thrombocytopenia, anemia, elevated levels of liver enzymes, bile acid and direct bilirubin, cholestasis, pulmonary hypoplasia, intracranial hemorrhage, and abnormal electroencephalogram. Read More

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Clin Dysmorphol 2004 Apr;13(2):117-119

Department of Medical Genetics Department of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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

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

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

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

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

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

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