738 results match your criteria Ichthyosis X-Linked


[Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1].

Andes Pediatr 2021 Dec 5;92(6):930-936. Epub 2021 Nov 5.

Servicios Médicos Yunis Turbay y CIA, Bogotá, Colombia.

Introduction: In newborns with respiratory failure and interstitial lung disease, it should be approached as chILD (Childhood Interstitial Lung Disease) syndrome to rule out alterations in surfactant metabolism and brain-lung-thyroid syndrome caused by pathogenic variants in the NKX2-1 gene.

Objective: To pre sent a newborn with chILD syndrome and a large deletion in chromosome 14q12-q21.1. Read More

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December 2021

Comorbid Medical Issues in X-Linked Ichthyosis.

JID Innov 2022 May 17;2(3):100109. Epub 2022 Feb 17.

School of Psychology, Cardiff University, Cardiff, United Kingdom.

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How to Manage Low Estriol Levels in Pregnancies, One Center Experience.

Medeni Med J 2022 Mar;37(1):62-70

University of Health Sciences Turkey, Basaksehir Cam and Sakura City Hospital, Clinic of Obstetrics and Gynecology, Division of Perinatology, Istanbul, Turkey.

Objective: Low estriol (uE3) levels in the second-trimester screening for Down syndrome may be the result of fetal demise, congenital abnormalities, or some genetic hormonal disorders of the fetus. Although X-linked ichthyosis, a microdeletion syndrome with mild ichthyosis, which causes steroid sulfatase (STS) deficiency, is the most common genetic cause, second-trimester screening tests calculate the risk for a less common and severe disorder known as the Smith Lemli Opitz syndrome (SLOS). We aimed to investigate the outcomes of pregnancies with low uE3 levels in Down syndrome screening and emphasize the high prevalence of STS deficiency instead of SLOS in such cases. Read More

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A Novel Mutation in the Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome.

Ann Dermatol 2022 Feb 27;34(1):59-62. Epub 2022 Jan 27.

Department of Dermatology, School of Medicine, Pusan National University, Busan, Korea.

Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genetic disorder caused by mutations in the gene. It is characterized by ichthyosis and alopecia from birth. Photophobia may be present in infancy or early childhood. Read More

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February 2022

Cholesterol sulfate fluidizes the sterol fraction of the stratum corneum lipid phase and increases its permeability.

J Lipid Res 2022 03 7;63(3):100177. Epub 2022 Feb 7.

Institute of Medical Physics and Biophysics, University of Leipzig, Leipzig, Germany. Electronic address:

Desulfation of cholesterol sulfate (CholS) to cholesterol (Chol) is an important event in epidermal homeostasis and necessary for stratum corneum (SC) barrier function. The CholS/Chol ratio decreases during SC maturation but remains high in pathological conditions, such as X-linked ichthyosis, characterized by dry and scaly skin. The aim of this study was to characterize the influence of the CholS/Chol molar ratio on the structure, dynamics, and permeability of SC lipid model mixtures. Read More

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Mood symptoms, neurodevelopmental traits, and their contributory factors in X-linked ichthyosis, ichthyosis vulgaris and psoriasis.

Clin Exp Dermatol 2022 Feb 1. Epub 2022 Feb 1.

School of Psychology, Cardiff University, Cardiff, UK.

Background: High rates of adverse mood/neurodevelopmental traits are seen in multiple dermatological conditions, and can significantly affect patient quality of life. Understanding the sex-specific nature, magnitude, impact and basis of such traits in lesser-studied conditions like ichthyosis, is important for developing effective interventions.

Aim: To quantify and compare relevant psychological traits in men with X-linked ichthyosis (XLI, n = 54) or in XLI carrier women (n = 83) and in patients with ichthyosis vulgaris (IV, men n = 23, women n = 59) or psoriasis (men n = 30, women n = 122), and to identify factors self-reported to contribute most towards depressive, anxious and irritable phenotypes. Read More

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February 2022

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.

J Hum Genet 2022 May 9;67(5):303-306. Epub 2022 Jan 9.

Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

X-linked dominant chondrodysplasia punctata (CDPX2) is a rare congenital disorder caused by pathogenic variants in EBP on Xp11.23. We encountered a girl and her mother with CDPX2-compatible phenotypes including punctiform calcification in the neonatal period of the girl, and asymmetric limb shortening and ichthyosis following the Blaschko lines in both subjects. Read More

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Kallmann Syndrome and X-linked Ichthyosis Caused by Translocation Between Chromosomes X and Y: A Case Report.

J Reprod Infertil 2021 Oct-Dec;22(4):302-306

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

Background: Xp22.3 region is characterized by low frequency of interspersed repeats and low GC content. Several clinically important genes including ANOS1 (KAL1) reside in this region. Read More

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A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.

Mol Genet Genomic Med 2022 01 26;10(1):e1848. Epub 2021 Dec 26.

Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore, Singapore.

Background: CHILD syndrome is an X-linked dominant disorder associated with pathogenic mutations in the NSDHL gene. The condition is predominantly found in females as it is lethal in males. Most cases present at birth with extensive unilateral ichthyosiform erythroderma involving the trunk and limbs. Read More

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January 2022

Oral manifestations of multisystemic inflammatory syndrome in children (MIS-C) and Kawasaki disease associated to COVID-19: A systematic review.

Spec Care Dentist 2022 May 18;42(3):266-280. Epub 2021 Nov 18.

Laboratory of Oral Surgical Pathology, School of Dentistry, Federal University of Bahia (UFBA), Salvador, Bahia, Brazil.

Aims: Multisystemic inflammatory syndrome in children (MIS-C) is a condition noted in some children asymptomatic but positive to Sars-cov-2 antibody and it presents clinical and laboratory changes similar to Kawasaki disease (KD). Oral changes have also been observed. This systematic review evaluated oral manifestations detected in children with MIS-C and KD associated to COVID-19. Read More

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Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment.

Pediatr Dermatol 2022 Jan 17;39(1):151-152. Epub 2021 Nov 17.

Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida, USA.

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder of cholesterol synthesis characterized by unilateral ichthyosiform dermatitis with ipsilateral limb hypoplasia. Recently, pathogenesis-based treatment has demonstrated improvement of skin lesions with statins by decreasing formation of cholesterol intermediates through inhibition of cholesterol synthesis. We report a 10-month-old girl who presented with unilateral scaly ptychotropic plaques, who experienced rapid, near-complete clearance with topical 5% simvastatin monotherapy twice daily. Read More

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January 2022

ADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications.

Neurosci Biobehav Rev 2022 01 11;132:838-856. Epub 2021 Nov 11.

Division of Psychiatry, Haukeland University Hospital, Norway; Department of Biomedicine, University of Bergen, Norway. Electronic address:

Neurometabolic diseases (NMDs) are typically caused by genetic abnormalities affecting enzyme functions, which in turn interfere with normal development and activity of the nervous system. Although the individual disorders are rare, NMDs are collectively relatively common and often lead to lifelong difficulties and high societal costs. Neuropsychiatric manifestations, including ADHD symptoms, are prominent in many NMDs, also when the primary biochemical defect originates in cells and tissues outside the nervous system. Read More

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January 2022

Steroid sulfatase deficiency causes cellular senescence and abnormal differentiation by inducing Yippee-like 3 expression in human keratinocytes.

Sci Rep 2021 10 21;11(1):20867. Epub 2021 Oct 21.

College of Pharmacy and Center for Metareceptome Research, Chung-Ang University, Seoul, Republic of Korea, 06974.

Human steroid sulfatase (STS) is an enzyme that catalyzes the hydrolysis of dehydroepiandrosterone sulfate (DHEAS), estrone sulfate (E1S), and cholesterol sulfate. Abnormal expression of STS causes several diseases including colorectal, breast, and prostate cancer and refractory skin disease. In particular, accumulation of intracellular cholesterol sulfate by STS deficiency leads to a skin disorder with abnormal keratinization called X-linked ichthyosis (XLI). Read More

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October 2021

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.

Am J Med Genet A 2022 02 15;188(2):463-472. Epub 2021 Oct 15.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP syndrome) is a rare, X-linked disorder caused by pathogenic variants in membrane-bound transcription factor protease, site 2 (MBTPS2). Pathogenic MBTPS2 variants also cause BRESHECK syndrome, characterized by the IFAP triad plus intellectual disability and multiple congenital anomalies. Here we present a patient with ichthyosis, sparse hair, pulmonic stenosis, kidney dysplasia, hypospadias, growth failure, thrombocytopenia, anemia, bone marrow fibrosis, and chronic diarrhea found by research-based exome sequencing to harbor a novel, maternally inherited MBTPS2 missense variant (c. Read More

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February 2022

Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression.

J Pediatr Genet 2021 Sep 20;10(3):222-229. Epub 2020 Aug 20.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, United States.

We presented in this article a patient with Klinefelter syndrome (KS) (47,XXY) who had maternal nondisjunction and uniparental disomy of the X chromosome with regions of heterodisomy and isodisomy, an interstitial Xp22.31 deletion of both X chromosomes, and other problems. His mother also possesses the same Xp22. Read More

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September 2021

Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling.

Acta Derm Venereol 2021 Sep 15;101(9):adv00546. Epub 2021 Sep 15.

Department of Dermatology, University of Münster, Münster, Germany.

Data on vitamin D status of patients with inherited ichthyosis in Europe is scarce and unspecific concerning the genetic subtype. This study determined serum levels of 25-hydroxyvitamin D3 (25(OH)D3) in 87 patients with ichthyosis; 69 patients were additionally analysed for parathyroid hormone. Vitamin D deficiency was pronounced in keratinopathic ichthyosis (n = 17; median 25(OH)D3: 10. Read More

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September 2021

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked Osteogenesis Imperfecta.

Front Genet 2021 21;12:662751. Epub 2021 May 21.

Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.

Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by low bone density, bone fragility and recurrent fractures. The characterization of its heterogeneous genetic basis has allowed the identification of novel players in bone development. In 2016, we described the first X-linked recessive form of OI caused by hemizygous missense variants resulting in moderate to severe phenotypes. Read More

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Is it all MIS-C? Unusual findings in a series of nine German patients with multi-system inflammatory syndrome in children after SARS-CoV-2 infection.

Int J Infect Dis 2021 May 20;106:405-408. Epub 2021 Apr 20.

Department of Paediatrics, University of Cologne, Cologne, Germany.

Objectives: Multi-system inflammatory syndrome in children (MIS-C) is a post-viral inflammatory vasculopathy of children and adolescents following Covid-19 infection. Since the incidence of SARS-CoV-infections has been increasing in Germany since October 2020, we observe an increasing number of children presenting with MIS-C.

Design: We present detailed clinical characteristics of a cohort of nine children with MIS-C admitted to a tertiary PICU at the University Hospital of Cologne between March 2020 and February 2021. Read More

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

Pediatr Dermatol 2021 May 19;38(3):568-574. 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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Inborn Error of Immunity or Atopic Dermatitis: When to be Concerned and How to Investigate.

J Allergy Clin Immunol Pract 2021 04 3;9(4):1501-1507. Epub 2021 Feb 3.

Department of Dermatology and Allergy, University Hospital, LMU Munich, Munich, Germany. Electronic address:

Around 20% of all children worldwide suffer from atopic dermatitis. Therefore, eczematous skin lesions and elevated serum immunoglobulin E (IgE) levels are common findings. Inborn errors of immunity (IEI) may be missed in the context of atopic dermatitis, and management and prognosis of these conditions can be substantially different. Read More

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Vulnerable child syndrome in the neonatal intensive care unit: A review and a new preventative intervention with feasibility and parental satisfaction data.

Early Hum Dev 2021 03 25;154:105283. Epub 2020 Nov 25.

University of Texas Southwestern Medical Center, Dallas, TX, USA.

Vulnerable Child Syndrome (VCS) occurs in the setting in which a child recovers from a life-threatening illness, as result of which the parent develops heightened parental perceptions of child vulnerability (PPCV). This leads to a pattern of overprotective parenting which may result in adverse neurodevelopmental and behavioral outcomes in the child over time. Parents of premature infants have been shown to be at increased risk of developing raised PPCV while their infants may develop symptoms of VCS. 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

Types of congenital nonsyndromic ichthyoses.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2020 Dec 21;164(4):357-365. Epub 2020 Oct 21.

Center of Molecular Biology and Gene Therapy IHOK University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic Corresponding author: Blanka Pinkova, e-mail.

Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Read More

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December 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