713 results match your criteria Ichthyosis X-Linked


Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum.

Pediatr Dermatol 2021 Mar 19. Epub 2021 Mar 19.

Center in Investigation of Genodermatosis and Epidermolysis Bullosa (CEDIGEA), University of Buenos Aires, Buenos Aires, Argentina.

Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic variants in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2). Clinical presentation includes ichthyosis follicularis, alopecia, photophobia and developmental delay. Hereditary mucoepithelial dysplasia (HMD) is a dominantly inherited disease characterized by keratitis, non-scarring alopecia, skin lesions including follicular keratosis, perineal erythema, and mucosal involvement. Read More

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A novel STS mutation and an Xp22.31 microdeletion in a Chinese family with X-linked ichthyosis.

Clin Exp Dermatol 2021 Apr 17;46(3):614-617. Epub 2020 Dec 17.

Precision Medical Center, Wuhan Children's Hospital, Wuhan Maternal and Child Healthcare Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

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Novel gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.

BMJ Case Rep 2020 Nov 2;13(11). Epub 2020 Nov 2.

Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.

We report a case of a 1-year and 2-month-old girl with clinical features consistent with congenital hemidysplasia with ichthyosis and limb defects syndrome. Sterol analysis from skin flakes revealed increased levels of a mono 4-alpha methyl sterol also seen in plasma as well as the presence of 4-alpha-carboxy-4-methyl-cholest-8(9)-en-3beta-ol and several keto-sterols, which are usually below the limit of detection. This sterol pattern is consistent with abnormal function of the 4-alpha-methylsterol-4-demethylase complex. Read More

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November 2020

Clinical features and genetic analysis of two Chinese families with X-linked ichthyosis.

J Int Med Res 2020 Oct;48(10):300060520962292

NHC Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.

Objective: Recessive X-linked ichthyosis (RXLI) caused by deficiency of the steroid sulfatase gene () has a reported prevalence of 1/2000 to 1/6000. The present study aimed to characterize the phenotypes and genotypes of two Chinese families with RXLI.

Methods: The patients were referred to the Family Planning Research Institute of Hunan Province for genetic counseling. Read More

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October 2020

Topical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent.

Int J Pharm Compd 2020 Sep-Oct;24(5):367-369

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.

Congenital ichthyoses are a heterogeneous group of genetic skin disorders characterized by defects in the critical barrier function of the skin. These life-long conditions present a significant therapeutic challenge in dermatology. One important example is Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects, or CHILD syndrome. Read More

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October 2020

Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.

BMC Med Genet 2020 08 20;21(1):164. Epub 2020 Aug 20.

Human Genetics Unit, Faculty of Medicine, University of Colombo, 25, Kynsey Road, Colombo, 08, Sri Lanka.

Background: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects also known as CHILD syndrome is an X-linked dominant, male lethal genodermatosis with a prevalence of 1 in 100,000 live births. Mutations in NSDHL gene located at Xq28 potentially impair the function of NAD(P) H steroid dehydrogenase-like protein and is responsible for its pathogenesis.

Case Presentation: The proband was a 9-month-old twin (T2) girl with a healthy twin sister (T1) of Sri Lankan origin born to non-consanguineous parents. Read More

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Cardiac anomalies in microtia patients at a tertiary pediatric care center.

Int J Pediatr Otorhinolaryngol 2020 Sep 23;136:110211. Epub 2020 Jun 23.

Department of Otolaryngology Head and Neck Surgery, Baylor College of Medicine, USA; Division of Pediatric Otolaryngology, Texas Children's Hospital, Houston, TX, 77030, USA. Electronic address:

Objective: Microtia is a congenital condition that is known to be associated with cardiac abnormalities. Current guidelines suggest performing an echocardiogram or other cardiac work-up in the presence of ear anomalies with dysmorphic features but not isolated microtia. We report on the prevalence and characteristics of cardiac anomalies among microtia patients at a tertiary pediatric center. Read More

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September 2020

Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank.

Hum Mol Genet 2020 Oct;29(17):2872-2881

Division of Psychological Medicine and Clinical Neurosciences and Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff CF24 4HQ, United Kingdom.

Deletions spanning the STS (steroid sulfatase) gene at Xp22.31 are associated with X-linked ichthyosis, corneal opacities, testicular maldescent, cardiac arrhythmia, and higher rates of developmental and mood disorders/traits, possibly related to the smaller volume of some basal ganglia structures. The consequences of duplication of the same genomic region have not been systematically assessed in large or adult samples, although evidence from case reports/series has indicated high rates of developmental phenotypes. Read More

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October 2020

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.

J Inherit Metab Dis 2020 11 20;43(6):1298-1309. Epub 2020 Aug 20.

Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes formylglycine-generating enzyme (FGE), a protein required for sulfatase activation. The clinical course of MSD results from additive effect of each sulfatase deficiency, including metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IIIE, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis. Read More

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November 2020

Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus.

Front Genet 2020 24;11:596. Epub 2020 Jun 24.

Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Background: A large deletion in Xp22.3 can result in contiguous gene syndromes, including X-linked ichthyosis (XLI) and Kallmann syndrome (KS), presenting with short stature, chondrodysplasia punctata, intellectual disability, and strabismus. XLI and KS are caused by the deletion of and , respectively. Read More

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Ocular surface analysis in patients diagnosed with X-linked ichthyosis.

Arch Soc Esp Oftalmol 2020 Nov 11;95(11):565-568. Epub 2020 Jul 11.

UGC Oftalmología, Hospital Universitario Virgen Macarena, Sevilla, España; Departamento de Cirugía, Universidad de Sevilla, Sevilla, España; RETICS-OFTARED.

Seven patients (14 eyes) diagnosed with X-linked ichthyosis were studied using the Schirmer test, biomicroscopy, tonometry, endothelial count, optical coherence tomography, Pentacam®, ocular surface analyser, and confocal microscopy. The mean age was 33.83±20. Read More

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November 2020

Validity of First-Time Diagnoses of Inherited Ichthyosis in the Danish National Patient Registry and the Danish Pathology Registry.

Clin Epidemiol 2020 19;12:651-657. Epub 2020 Jun 19.

Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark.

Purpose: Inherited ichthyosis is a monogenetic disease characterized by hyperkeratosis and scaling of the skin, with large interindividual variation in severity. It can affect quality of life for patients and their families. Population-based data on inherited ichthyosis are lacking, which hampers studies into its epidemiology. Read More

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Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review.

Biomed Res Int 2020 27;2020:1761738. Epub 2020 May 27.

Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun 130021, China.

Chromosomal rearrangements, such as duplications/deletions, can lead to a variety of genetic disorders. Herein, we reported a prenatal case with right aortic arch and aberrant left subclavian artery, consisting of a complex chromosomal copy number variations. Routine cytogenetic analysis described the chromosomal karyotype as 46,XY, add (2)(q37) for the fetus. Read More

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Verrucous hyperkeratosis with predominant involvement of the left side of the body and concomitant onychodystrophy in a 17-year-old girl.

J Dtsch Dermatol Ges 2020 09 8;18(9):1054-1057. Epub 2020 Jun 8.

Department of Dermatology and Allergology, Bad Bentheim Medical Center, Bad Bentheim, Germany.

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September 2020

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.

Am J Hum Genet 2020 07 3;107(1):34-45. Epub 2020 Jun 3.

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia, and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-protease (S2P), underlie X-linked IFAP syndrome. The present report describes the identification via whole-exome sequencing of three heterozygous mutations in SREBF1 in 11 unrelated, ethnically diverse individuals with autosomal-dominant IFAP syndrome. Read More

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Multimodal Imaging of Pre-Descemet Corneal Dystrophy Associated With X-Linked Ichthyosis and Deletion of the STS Gene.

Cornea 2020 Nov;39(11):1442-1445

Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA; and.

Purpose: To investigate the presence of pre-Descemet corneal dystrophy (PDCD) in association with X-linked ichthyosis (XLI) in an 11-year-old boy using multimodal imaging and genetic analysis.

Methods: Corneal opacities were examined and imaged with slit-lamp biomicroscopy, anterior segment optical coherence tomography, noncontact specular microscopy, and in vivo confocal microscopy. Cytogenomic array analysis was performed using genomic DNA isolated from the patient. Read More

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November 2020

Pediatric Crohn Disease and Multisystem Inflammatory Syndrome in Children (MIS-C) and COVID-19 Treated With Infliximab.

J Pediatr Gastroenterol Nutr 2020 08;71(2):153-155

Department of Pediatric Gastroenterology, Susan and Leonard Feinstein IBD Clinical Center, Icahn School of Medicine at Mount Sinai, New York, NY.

Coronavirus disease 2019 (COVID-19) may lead to a severe inflammatory response referred to as a cytokine storm. We describe a case of severe COVID-19 infection in a recently diagnosed pediatric Crohn disease patient successfully treated with tumor necrosis factor-alpha (TNF-α) blockade. The patient presented with 5 days of fever, an erythematous maculopapular facial rash, and abdominal pain without respiratory symptoms. Read More

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[Ichthyosis vulgaris].

Ugeskr Laeger 2020 04;182(17)

Ichthyosis – also called fish scale disease – is a group of skin diseases, which are characterised by xerosis and scaling. Most commonly, the diseases are genetically inherited, but an acquired type also exists. Ichthyosis vulgaris (IV), is the most common type, affecting 1:250 individuals. Read More

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X-Linked Familial Focal Epilepsy Associated With Xp22.31 Deletion.

Pediatr Neurol 2020 07 13;108:113-116. Epub 2020 Apr 13.

Department of Medical Imaging, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.

Background: The genetic basis for familial focal epilepsy is poorly understood, with most of the known genetic causes occurring via autosomal dominant inheritance. X-linked familial focal epilepsy has not been previously reported.

Methods: We reviewed our research database for cases of X-linked focal epilepsy. Read More

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Is X-linked Recessive Ichthyosis a High Risk for Basal Cell Carcinoma?

Yonago Acta Med 2020 Feb 20;63(1):92-94. Epub 2020 Feb 20.

Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8503, Japan.

We report a case of X-linked recessive ichthyosis with basal cell carcinoma. An 86-year-old man was referred to our department for evaluation of a 1-year history of an ulcer on his left leg. He had suffered from dry skin with scales on his entire body since childhood. Read More

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February 2020

Genetics of Inherited Ichthyoses and Related Diseases.

Acta Derm Venereol 2020 Mar 25;100(7):adv00096. Epub 2020 Mar 25.

Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, DE-79106 Freiburg, Germany.

Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are defined on the basis of clinical and genetic features and are mainly divided into non-syndromic and syndromic ichthyoses. Numerous genes, which encode for corresponding proteins, are involved in the normal differentiation of keratinocytes (cornification) and participate in the formation of a functional epidermal barrier. To date, mutations in more than 50 genes are known to result in various types of ichthyoses. Read More

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Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

Acta Derm Venereol 2020 Mar;100(7):adv00095

The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically heterogeneous group of diseases which can be divided into syndromic and non-syndromic forms. In the non-syndromic forms, the clinical manifestations are limited to the cutaneous structures while the syndromic ones are associated with a spectrum of extracutaneous manifestations. The inheritance in different families can be autosomal dominant, autosomal recessive or either X-linked dominant or recessive. Read More

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Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank.

J Med Genet 2020 10 5;57(10):692-698. Epub 2020 Mar 5.

School of Psychology, Cardiff University, Cardiff, UK

Background: X-linked ichthyosis (XLI) is an uncommon dermatological condition resulting from a deficiency of the enzyme steroid sulfatase (STS), often caused by X-linked deletions spanning . Some medical comorbidities have been identified in XLI cases, but small samples of relatively young patients has limited this. is highly expressed in subcortical brain structures, and males with XLI and female deletion carriers appear at increased risk of developmental/mood disorders and associated traits; the neurocognitive basis of these findings has not been examined. Read More

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October 2020

Ichthyoses in everyday practice: management of a rare group of diseases.

J Dtsch Dermatol Ges 2020 Mar 2;18(3):225-243. Epub 2020 Mar 2.

Department of Dermatology and Venereology, Münster University Medical Center, Münster, Germany.

Ichthyoses comprise a heterogeneous group of hereditary disorders of keratinization characterized by a highly varied clinical picture. A distinction is made between common hereditary ichthyoses (ichthyosis vulgaris and X-linked ichthyosis), which usually manifest themselves in the first year of life, and rare, sometimes severe congenital ichthyoses. Patients with very mild symptoms often do not even realize they have ichthyosis. Read More

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A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.

BMC Med Genet 2020 01 31;21(1):20. Epub 2020 Jan 31.

Faculty of Allied and Health Sciences, Imperial College of Business Studies, Lahore, Pakistan.

Background: X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales on different parts of the body surface. It almost exclusively affects males and the estimated prevalence ranges from 1:2000-6000 in males worldwide. Extracutaneous manifestations are frequent including corneal opacities, cryptorchidism, neuropsychiatric symptoms or others. Read More

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January 2020

X-linked and autosomal dominant forms of the ichthyosis in coinheritance.

Drug Metab Pers Ther 2019 12;34(4)

Saint Petersburg City Hospital No. 40, Saint Petersburg, Russian Federation.

According to modern classification, there are two forms of inherited ichthyoses: syndromic and non-syndromic, each of them consists of more than ten different nosologies. The commonest types of the ichthyosis are X-linked recessive (prevalence 1/2000-6000 in men) and autosomal dominant, or ichthyosis vulgaris with incomplete penetrance (1/250-1000). The X-linked form is associated with mutations in steroid sulfatase STS gene, it is noteworthy that there is a full deletion of the gene in 90% of cases. Read More

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December 2019

Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.

Clin Genet 2020 05 9;97(5):770-778. Epub 2020 Feb 9.

Department of Dermatology, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Inherited ichthyoses are a heterogeneous group of rare disorders related to over 40 genes. To identify underlying molecular causes in inherited ichthyosis among Chinese and to correlate genotype and phenotype, 35 probands clinically diagnosed inherited ichthyosis, except ichthyosis vulgaris and X-linked ichthyosis, were included in our study. Molecular analysis was performed using next-generation sequencing (NGS) through multi-gene panel testing targeting all ichthyosis-related genes. Read More

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X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.

J Clin Lab Anal 2020 May 16;34(5):e23201. Epub 2020 Jan 16.

Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.

Background: X-linked ichthyosis (XLI) is the second most common type of ichthyosis, which is characterized by wide and symmetric distribution of adherent, dry, and polygonal scales on the skin. Steroid sulfatase (STS) gene, which is located at chromosome Xp22.31, has been identified as the pathogenic gene of XLI. Read More

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